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Appell ML, Hindorf U, Almer S, Haglund S, Response to azathioprine treatment in autoimmune hepatitis is dependent on glutathione transferase genotypes.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 57:885-892 2025
PubMed ID: 39863504 View Samples

Byun S, Yoon SH, Hong YJ, Jang HS, Seo BJ, Choi GT, La H, Lee JW, Hong K, Do JT, Expression Patterns of Escape Genes in Turner Syndrome Fibroblasts and Induced Pluripotent Stem Cells.
International journal of molecular sciences 26: 2025
PubMed ID: 39940742 View Samples

Aoki Y, Ohki A, Yanaizu M, Kino Y, Comparative Analysis of MBNL1 Antibodies: Characterization of Recognition Sites and Detection of RNA Foci Colocalization.
Genes 16: 2025
PubMed ID: 40565550 View Samples

Hartinger R, Fenzl FQ, Nalewaja VM, Djabali K, Argan Callus Extract Restores Skin Cells via AMPK-Dependent Regulation of Energy Metabolism, Autophagy, and Inflammatory Pathways.
Antioxidants (Basel, Switzerland) 14: 2025
PubMed ID: 40722908 View Samples

Edzeamey FJ, Ramchunder Z, McCarthy RR, Virmouni SA, Galleria mellonella as a drug discovery model to study oxidative stress.
Scientific reports 15:15218 2025
PubMed ID: 40307386 View Samples

Banning A, Hoeren L, Atallah I, Orczyk R, Jacquier D, Ballhausen D, Tikkanen R, Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.
Cells 14: 2025
PubMed ID: 40643555 View Samples

Bae JE, Jang S, Kim JB, Park NY, Jo DS, Hyung H, Kim P, Kim MS, Ryu HY, Lee HS, Lee DS, Baes M, Ryoo ZY, Cho DH, HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.
Nature communications 16:2663 2025
PubMed ID: 40102401 View Samples

Emiliani FE, Ismail AAO, Hughes EG, Tsongalis GJ, Zanazzi GJ, Lin CC, Nanopore-based random genomic sampling for intraoperative molecular diagnosis.
Genome medicine 17:6 2025
PubMed ID: 39833913 View Samples

Halligan NLN, Hanks SC, Matsuo K, Martins T, Zöllner S, Quasney MW, Scott LJ, Dahmer MK, Variants in the ß-globin locus are associated with pneumonia in African American children.
HGG advances 6:100374 2025
PubMed ID: 39444160 View Samples

Appu AP, Bagh MB, Plavelil N, Mondal A, Sadhukhan T, Singh SP, Perkins NJ, Liu A, Mukherjee AB, Niemann Pick C1 mistargeting disrupts lysosomal cholesterol homeostasis contributing to neurodegeneration in a Batten disease model.
Science advances 11:eadr5703 2025
PubMed ID: 40333988 View Samples

Ingar Romero A, Raicevic T, Al Boustani G, Gupta M, Heiler AC, Bichlmaier L, Barbone M, Becherer M, Kiriya D, Inoue S, Alexander J, Müller K, Bausch AR, Wolfrum B, Teshima TF, Self-Foldable Three-Dimensional Biointerfaces by Strain Engineering of Two-Dimensional Layered Materials on Polymers.
ACS applied materials & interfaces 17:10305-10315 2025
PubMed ID: 39879108 View Samples

Angel M, Kleinberg Y, Newaz T, Li V, Zaid R, Oved K, Dorot O, Pichinuk E, Avitan-Hersh E, Saada A, Weiss K, Zaremberg V, Tal G, Zalckvar E, Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.
Orphanet journal of rare diseases 20:195 2025
PubMed ID: 40275410 View Samples

Lee Y, Shen X, Dreesen O, Zhu J, Li R, Dysregulation of extracellular fibronectin and a5-integrin in dermal aging.
Molecular biology of the cell 36:ar99 2025
PubMed ID: 40560397 View Samples

Latorre-Crespo E, Robertson NA, Kosebent EG, MacGillivray L, Murphy L, Uddin M, Whitsel E, Honigberg M, Bick A, Reiner AP, Orrù V, Marongiu M, Cucca F, Fiorillo E, Deary IJ, Harris S, Cox S, Marioni R, Schumacher L, Chandra T, Kirschner K, Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 40093158 View Samples

Best HL, Cook SR, Waller-Evans H, Lloyd-Evans E, Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
International journal of molecular sciences 26: 2025
PubMed ID: 40003936 View Samples

Ciccaldo M, Pérez-Carmona N, Piovesana E, Cano-Crespo S, Ruano A, Delgado A, Fregno I, Calvo-Flores Guzmán B, Bellotto M, Molinari M, Taylor J, Papin S, García-Collazo AM, Paganetti P, A novel allosteric GCase modulator prevents Tau accumulation in GBA1.
Scientific reports 15:17646 2025
PubMed ID: 40399377 View Samples

Kaur N, Singh J, Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.
International journal of molecular sciences 26: 2025
PubMed ID: 40004040 View Samples

De Cock L, D'haenens E, Vantomme L, Backers L, Beyens A, Claes KB, De Clercq G, de Putter R, Kumps C, Schuermans N, Sourbron J, Syryn H, Tavernier S, Vanbelleghem E, Vanakker O, Vandekerckhove B, Van Damme T, Callewaert B, Dheedene A, Vergult S, Menten B, Cracking rare disorders: a new minimally invasive RNA-seq protocol.
NPJ genomic medicine 10:45 2025
PubMed ID: 40436861 View Samples

Cai K, Li S, Pan M, Lu H, Wang L, Fang S, Gou L, Tang J, Kong Y, Zhao L, Ren Y, Comparative assessment of the Sikun 2000 sequencing platform for whole genome sequencing.
Scientific reports 15:19070 2025
PubMed ID: 40447879 View Samples

Heilbrun EE, Tseitline D, Wasserman H, Kirshenbaum A, Cohen Y, Gordan R, Adar S, The epigenetic landscape shapes smoking-induced mutagenesis by modulating DNA damage susceptibility and repair efficiency.
Nucleic acids research 53: 2025
PubMed ID: 39933696 View Samples

Eldin P, Briant L, tRNA Modifications: A Tale of Two Viruses-SARS-CoV-2 and ZIKV.
International journal of molecular sciences 26: 2025
PubMed ID: 40806605 View Samples

Greer-Short A, Greenwood A, Leon EC, Qureshi TN, von Kraut K, Wong J, Tsui JH, Reid CA, Cheng Z, Easter E, Yang J, Ho J, Steltzer S, Budan A, Cho M, Chandrakumar R, Cisne-Thompson O, Feathers C, Chung TW, Rodriguez N, Jones S, Alleyne-Levy C, Liu J, Jing F, Prince WS, Lin J, Ivey KN, Tingley WG, Hoey T, Lombardi LM, AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models.
Nature communications 16:2196 2025
PubMed ID: 40038304 View Samples

Böttcher AK, Siqueira MB, Malgarezi N, Nunes MR, Mergener R, Kalil LP, Trevisan P, Zen PRG, First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 43:e2024133 2025
PubMed ID: 39841745 View Samples

Grant ZL, Kuang S, Zhang S, Horrillo AJ, Rao KS, Kameswaran V, Joubran C, Lau PK, Dong K, Yang B, Bartosik WM, Zemke NR, Ren B, Kathiriya IS, Pollard KS, Bruneau BG, Dose-dependent sensitivity of human 3D chromatin to a heart disease-linked transcription factor.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 39829922 View Samples

Hilal N, An Z, Prondzynski M, Matsui E, Sahu D, Mao S, Jung YL, Yang Y, Epstein S, Chen MH, Pu W, Monte FD, Huang AY, Choudhury S, Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.
Research square : 2025
PubMed ID: 39975917 View Samples

Barreto-Gamarra C, Domenech M, Integrin stimulation by collagen I at the progenitor stage accelerates maturation of human iPSC-derived cardiomyocytes.
Journal of molecular and cellular cardiology 201:70-86 2025
PubMed ID: 40023481 View Samples

Kandettu A, Yeole M, Sekar H, Garapati K, Kaur N, Anand A, Hegde P, Nair K, Medishetti R, Bhat V, Radhakrishnan P, Mundkur SC, Shrikiran HA, Pandey A, Sevilimedu A, Chakrabarty S, Shukla A, Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.
European journal of human genetics : EJHG : 2025
PubMed ID: 40360742 View Samples

Betschart RO, Thalén F, Blankenberg S, Zoche M, Zeller T, Ziegler A, A benchmark study of compression software for human short-read sequence data.
Scientific reports 15:15358 2025
PubMed ID: 40316539 View Samples

Superdock DK, Johnson LM, Ren J, Khan A, Eno M, Man S, Poole AC, The Impact of Human Salivary Amylase Gene Copy Number and Starch on Oral Biofilms.
Microorganisms 13: 2025
PubMed ID: 40005827 View Samples

Lee SI, Lim H, Kim NY, Yu J, Cho J, Lee H, Moon DW, Seo J, Imaging lipid rafts reveals the principle of ApoE4-induced Aß upregulation in human neurons.
iScience 28:111893 2025
PubMed ID: 39995873 View Samples

Holmes BB, Weigel TK, Chung JM, Kaufman SK, Apresa BI, Byrnes JR, Kumru KS, Vaquer-Alicea J, Gupta A, Rose IVL, Zhang Y, Nana AL, Alter D, Grinberg LT, Spina S, Leung KK, Condello C, Kampmann M, Seeley WW, Coutinho-Budd JC, Wells JA, ß-Amyloid Induces Microglial Expression of GPC4 and APOE Leading to Increased Neuronal Tau Pathology and Toxicity.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 40060520 View Samples

Comper F, Miranda CJ, Liou B, Dodev T, Jeyakumar JM, Canavese M, Cocita C, Khoshrou K, Tiscornia G, Chisari E, Stotter E, Shehu E, Sridharan S, Yu IM, Pandya J, Khinder J, Northcott N, Kalcheva P, Correia S, Sun Y, Dane AP, Sheridan R, Nathwani AC, Corbau R, FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.
Molecular therapy : the journal of the American Society of Gene Therapy 33:3789-3807 2025
PubMed ID: 40340248 View Samples

Lopez ME, Wendt D, Lawrence R, Gong K, Ong H, Yip B, Chen J, Mangini L, Handyside B, Giaramita A, Lamichhane A, Lo M, Agrawal V, Van Vleet J, Abolhesn A, Felix JB, Villalpando I, Bhat V, De Angelis R, Ru Y, Khan A, Fong S, Christianson T, Bullens S, Crawford BE, Bunting S, Aoyagi-Scharber M, Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.
PloS one 20:e0315005 2025
PubMed ID: 39752451 View Samples

Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D, MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.
Epigenetics & chromatin 18:24 2025
PubMed ID: 40296143 View Samples

Chen X, Ligumsky H, Ambrose C, Sibrian D, Tran B, Arif D, Castellanos O, Kessner D, Luo H, Ubale M, Coleman A, Mahaganapathy V, Jönsson TJ, Basho RK, Lee JSH, Matasci N, Agus DB, Monitoring the rate and variability of somatic genomic alterations using long-read sequencing.
Scientific reports 15:18397 2025
PubMed ID: 40500302 View Samples

Jahangir MU, Chang MM, Wilkinson A, Wazir Z, Tubman VN, Airewele GE, Richards-Kortum R, Recombinase polymerase amplification for single nucleotide polymorphism-specific detection of ß.
Analytical biochemistry 705:115919 2025
PubMed ID: 40460986 View Samples

Gao S, Wang Q, Gao Y, Feng X, Pang K, Li H, Zheng F, Lu J, Li B, Liu J, Yang M, Li K, Ismayiljan H, Yang H, Yan J, Guo X, Yin Y, Development and validation of a multiplex panel with 232 microhaplotypes and software for forensic kinship analysis.
Forensic science international Genetics 76:103212 2025
PubMed ID: 39798275 View Samples

Hatipoglu Ö, Saydam F, The role of AMY1 gene copy number variation in dental caries susceptibility: insights from a Turkish population.
BMC oral health 25:722 2025
PubMed ID: 40369510 View Samples

Chou CC, Vest R, Prado MA, Wilson-Grady J, Paulo JA, Shibuya Y, Moran-Losada P, Lee TT, Luo J, Gygi SP, Kelly JW, Finley D, Wernig M, Wyss-Coray T, Frydman J, Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.
nature cell biology : 2025
PubMed ID: 40140603 View Samples

Guerrero-Vargas JM, Suarez-Garcia DA, Leal AF, Diaz-Ariza IL, Pérez-Pérez LD, Espejo-Mojica AJ, Alméciga-Díaz CJ, Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease.
Pharmaceutics 17: 2025
PubMed ID: 40430919 View Samples

McIntyre ABR, Tschan AB, Meyer K, Walser S, Rai AK, Fujita K, Pelkmans L, Phosphorylation of a nuclear condensate regulates cohesion and mRNA retention.
Nature communications 16:390 2025
PubMed ID: 39755675 View Samples

Sesti V, Magni A, Moschetta M, Florindi C, Pfeffer ME, DiFrancesco ML, Guizzardi M, Folpini G, Sala L, Ritacca AG, Campanelli B, Moretti P, Paternò GM, Maragliano L, Tommasini M, Lodola F, Colombo E, Benfenati F, Bertarelli C, Lanzani G, Membrane-targeted push-pull azobenzenes for the optical modulation of membrane potential.
Light, science & applications 14:8 2025
PubMed ID: 39741143 View Samples

Kim J, Kim S, Hwang Y, An S, Park J, Kwon YB, Cho B, Kwon D, Kim Y, Kang S, Kim YK, Kim J, Electromagnetized MXenes Enhance the Efficient Direct Reprogramming of Dopamine Neurons for Parkinson's Disease Therapy.
ACS nano 19:16744-16759 2025
PubMed ID: 40257388 View Samples

Gulieva RE, Ahmadvand P, Freedman BS, A novel rapalog shows improved safety vs efficacy in a human organoid model of polycystic kidney disease.
Stem cell reports 20:102395 2025
PubMed ID: 39855202 View Samples

Salovska B, Li W, Bernhardt OM, Germain PL, Wang Q, Gandhi T, Reiter L, Liu Y, A robust multiplex-DIA workflow profiles protein turnover regulations associated with cisplatin resistance and aneuploidy.
Nature communications 16:5034 2025
PubMed ID: 40447611 View Samples

Mahendran G, Breger K, McCown PJ, Hulewicz JP, Bhandari T, Addepalli B, Brown JA, Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome.
Molecular neurobiology : 2025
PubMed ID: 39508990 View Samples

Matta J, Ortiz-Sánchez C, Encarnación-Medina J, Torres-Caraballo S, Oliveras J, Park J, Arroyo MM, Ruiz-Deya G, DNA Repair Capacity and Clinicopathological Characteristics in Puerto Rican Hispanic/Latino Patients with Metastatic Castration-Resistant Prostate Cancer.
Cancers 17: 2025
PubMed ID: 39858060 View Samples

de Andrade KC, Pinto EM, Zhao T, Zeigler LP, Kim J, Giri N, Haley JS, McReynolds LJ, Florez-Vargas O, Phillips AH, Kriwacki RW, Akinniyi SA, Cohen SB, Emerson MR, Smelser DT, Urban GM, Fridman C, Zambetti GP, Bryan TM, Carey DJ, Garcia CK, Stewart DR, Savage SA, TERT c3150 G > C (pK1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
NPJ genomic medicine 10:46 2025
PubMed ID: 40456748 View Samples

Luteijn MJ, Bhaskar V, Trojer D, Schürz M, Mahboubi H, Handl C, Pizzato N, Pfeifer M, Dafinca R, Voshol H, Giorgetti E, Manneville C, Garnier IPM, Müller M, Zeng F, Buntin K, Markwalder R, Schröder H, Weiler J, Khar D, Schuhmann T, Groot-Kormelink PJ, Keller CG, Farmer P, MacKay A, Beibel M, Roma G, D'Ario G, Merkl C, Schebesta M, Hild M, Elwood F, Vahsen BF, Ripin N, Clery A, Allain F, Labow M, Gabriel D, Chao JA, Talbot K, Nash M, Hunziker J, Meisner-Kober NC, High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation.
Nucleic acids research 53: 2025
PubMed ID: 40207633 View Samples

Chowdhury SR, Shilpi A, Felsenfeld G, RNA Pol-II transcripts in nucleolar associated domains of cancer cell nucleoli.
Nucleus (Austin, Tex) 16:2468597 2025
PubMed ID: 39987497 View Samples

Kim E, An S, Ahn H, Lim J, Kim SK, Park AK, Fast and efficient method for parallel construction of targeted exome and methylome single-stranded DNA sequencing libraries.
Scientific reports 15:7144 2025
PubMed ID: 40021910 View Samples

Scafuri B, Piscosquito S, Giliberti G, Facchiano A, Miner J, Balakrishnan B, Lai K, Marabotti A, Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.
International journal of molecular sciences 26: 2025
PubMed ID: 39940658 View Samples

Hristodor AM, Cappelli E, Baldisseri E, Valli R, Montalbano G, Micheloni G, Porta G, Frattini A, Ravera S, Fioredda F, Lippi G, Dufour C, Cipolli M, Bezzerri V, Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.
Cell death discovery 11:286 2025
PubMed ID: 40544182 View Samples

Elçin-Guinot S, Lagies S, Avi-Guy Y, Neugebauer D, Huber TB, Schell C, Kammerer B, Römer W, Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA.
International journal of molecular sciences 26: 2025
PubMed ID: 40076891 View Samples

Igarashi M, Miyajima T, Wu C, Iwamoto T, Eto Y, Neurogenin 2-induced central neurons generated from NPC patient-derived iPSC display attenuated neurite outgrowth while accumulating cholesterol.
Biochimica et biophysica acta Molecular and cell biology of lipids 1870:159639 2025
PubMed ID: 40436106 View Samples

Mitchell R, Peck M, Gorden E, Just R, MixDeR: A SNP mixture deconvolution workflow for forensic genetic genealogy.
Forensic science international Genetics 76:103224 2025
PubMed ID: 39862579 View Samples

Zhou J, Li L, Liu Y, Jia W, Liu Q, Gao X, Wu A, Wu B, Shen Z, Wang Z, Han J, Niu B, Gong Y, Guan Y, Zhou J, Xue H, Zhou W, Hu K, Lu J, Xu L, Xia X, Yi X, Yang L, Lin G, Circulating tumour DNA in predicting and monitoring survival of patients with locally advanced rectal cancer undergoing multimodal treatment: long-term results from a prospective multicenter study.
EBioMedicine 112:105548 2025
PubMed ID: 39818166 View Samples

Mannherz W, Crompton A, Lampl N, Agarwal S, Metabolic constraint of human telomere length by nucleotide salvage efficiency.
Nature communications 16:3000 2025
PubMed ID: 40148339 View Samples

Plavelil N, Appu AP, Gopal KC, Mondal A, Perkins N, Mukherjee AB, Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model.
Neurobiology of disease 209:106890 2025
PubMed ID: 40158736 View Samples

Telle Å, Charwat V, Charrez B, Finsberg H, Healy KE, Wall ST, Estimation of Active Tension in Cardiac Microtissues by Solving a PDE-Constrained Optimization Problem.
International journal for numerical methods in biomedical engineering 41:e70034 2025
PubMed ID: 40272179 View Samples

Reddy BK, Annaiyappa N, Bhattacharya A, Chattarji S, Pal R, Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein.
Journal of visualized experiments : JoVE : 2025
PubMed ID: 40549667 View Samples

Terzian P, Vandecasteele C, Lledo J, Serre RF, Sabban J, Kuchly C, Pitel F, Leroux S, Demars J, Iannuccelli N, Fève K, Bonnet M, Gaspin C, Milan D, Iampietro C, Klopp C, Donnadieu C, Pig and quail CpG methylation datasets from short and long read sequencing technologies.
Scientific data 12:556 2025
PubMed ID: 40169632 View Samples

Elliott MJ, Howarth K, Main S, Fuentes Antrás J, Echelard P, Dou A, Amir E, Nadler MB, Shah E, Yu C, Bratman S, Bird T, Roh J, de Bruin EC, Rushton C, Chen Y, Gladchuk S, George AM, Birkeälv S, Alcaide M, Oton L, Putcha G, Woodhouse S, Bedard PL, Siu LL, Berman HK, Cescon DW, Ultrasensitive Detection and Monitoring of Circulating Tumor DNA Using Structural Variants in Early-Stage Breast Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 31:1520-1532 2025
PubMed ID: 39785866 View Samples

Munro R, Payne A, Holmes N, Moore C, Cahyani I, Loose M, Enhancing nanopore adaptive sampling for PromethION using readfish at scale.
Genome research 35:877-885 2025
PubMed ID: 39884748 View Samples

Jæger KH, Charwat V, Healy KE, Wall S, Tveito A, Determining properties of human-induced pluripotent stem cell-derived cardiomyocytes using spatially resolved electromechanical metrics.
The Journal of physiology : 2025
PubMed ID: 39960634 View Samples

Deng X, Bradshaw G, Kalocsay M, Mitchison T, Tubulin Regulates the Stability and Localization of STMN2 by Binding Preferentially to Its Soluble Form.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 40060442 View Samples

Lee SE, Baxter LL, Duran MI, Morris SD, Mosley IA, Fuentes KA, Pennings JLA, Guedj F, Bianchi DW, Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells.
Human molecular genetics : 2025
PubMed ID: 39533854 View Samples

Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW, University of Washington Center for Rare Disease Research AW, Undiagnosed Diseases Network AW, Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB, Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Nature genetics 57:469-479 2025
PubMed ID: 39880924 View Samples

Lehtonen J, Hakonen AH, Hassinen A, Lurås SI, Kaustio M, Glumoff V, Hinrichsen F, Li W, Sulonen AM, Wickman S, Almusa H, Polso M, Palomäki M, Kivirikko S, Avela K, Heiskanen K, Pietiäinen V, Aittomäki K, Saarela J, Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Human molecular genetics 34:1294-1312 2025
PubMed ID: 40401444 View Samples

Lau L, Cariaga TA, Chang AB, Lane JH, Purtha WE, Rapaport AS, Hu R, Konno H, Bulloch DN, Rardin MJ, Gibson BW, Devoss J, Ouyang W, Manzanillo PS, An essential role for TASL in mouse autoimmune pathogenesis and Toll-like receptor signaling.
Nature communications 16:968 2025
PubMed ID: 39856038 View Samples

Monterrubio-Ledezma F, Salcido-Gómez A, Zavaleta-Vásquez T, Navarro-García F, Cisneros B, Massieu L, The anti-senescence effect of D-ß-hydroxybutyrate in Hutchinson-Gilford progeria syndrome involves progerin clearance by the activation of the AMPK-mTOR-autophagy pathway.
GeroScience : 2025
PubMed ID: 39821043 View Samples

Rodemoyer B, Kariyawasam G, Subramanian V, Schmidt K, Condensin II interacts with BLM helicase in S phase to maintain genome stability.
Communications biology 8:492 2025
PubMed ID: 40133469 View Samples

René CA, Parks RJ, Extracellular vesicles efficiently deliver survival motor neuron protein to cells in culture.
Scientific reports 15:5674 2025
PubMed ID: 39955442 View Samples

Shtilbans A, Esneault E, Simon F, Mazzulli JR, Quiriconi DJ, Rom D, Reintsch WE, Krahn AI, Durcan TM, Evaluation of Additive Neuroprotective Effect of Combination Therapy for Parkinson's Disease Using In Vitro Models.
Antioxidants (Basel, Switzerland) 14: 2025
PubMed ID: 40298667 View Samples

Zhang J, Yang T, Xie Z, Ren Z, Shi L, Yan JW, Ni M, Rapid sequencing and identification for 18-STRs long amplicon panel using portable devices and nanopore sequencer.
Genomics 117:110970 2025
PubMed ID: 39608738 View Samples

Wang NB, Lende-Dorn BA, Beitz AM, Han P, Adewumi HO, O'Shea TM, Galloway KE, Proliferation history and transcription factor levels drive direct conversion to motor neurons.
Cell systems 16:101205 2025
PubMed ID: 40086434 View Samples

Salomon-Zimri S, Kerem N, Linares GR, Russek-Blum N, Ichida JK, Tracik F, Elucidating the Synergistic Effect of the PrimeC Combination for Amyotrophic Lateral Sclerosis in Human Induced Pluripotent Stem Cell-Derived Motor Neurons and Mouse Models.
Pharmaceuticals (Basel, Switzerland) 18: 2025
PubMed ID: 40283960 View Samples

Zhang W, Mittal S, Thomas R, Foroughishafiei A, Nunes Bastos R, Chung WK, Skourti-Stathaki K, Crooke ST, A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles.
JCI insight 10: 2025
PubMed ID: 40111412 View Samples

McNevin D, Watson J, Grisedale K, Dahal A, Goodwin C, Ward J, Comparison of commercial targeted amplicon sequencing assays for human remains identification casework.
International journal of legal medicine : 2025
PubMed ID: 39404865 View Samples

Matuszek Z, Arbab M, Kesavan M, Hsu A, Roy JCL, Zhao J, Yu T, Weisburd B, Newby GA, Doherty NJ, Wu M, Shibata S, Cristian A, Tao YA, Fearnley LG, Bahlo M, Rehm HL, Xie J, Gao G, Mouro Pinto R, Liu DR, Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.
Nature genetics 57:1437-1451 2025
PubMed ID: 40419681 View Samples

Uechi H, Sridharan S, Nijssen J, Bilstein J, Iglesias-Artola JM, Kishigami S, Casablancas-Antras V, Poser I, Martinez EJ, Boczek E, Wagner M, Tomschke N, de Jesus Domingues AM, Pal A, Doeleman T, Kour S, Anderson EN, Stein F, Lee HO, Zhang X, Fritsch AW, Jahnel M, Fürsch J, Murthy AC, Alberti S, Bickle M, Fawzi NL, Nadler A, David DC, Pandey UB, Hermann A, Stengel F, Davis BG, Baldwin AJ, Savitski MM, Hyman AA, Wheeler RJ, Small-molecule dissolution of stress granules by redox modulation benefits ALS models.
Nature chemical biology : 2025
PubMed ID: 40369342 View Samples

Tan SL, Neumann D, Trim PJ, Hewson LJ, Mustaffar NF, He QQ, Wimmer N, Snel MF, Ferro V, O'Keefe LV, Hemsley KM, Lau AA, Substrate reduction using a glucosamine analogue in Drosophila melanogaster and mouse models of Sanfilippo syndrome.
Molecular genetics and metabolism 145:109112 2025
PubMed ID: 40288156 View Samples

Lima BA, Pais AC, Dupont J, Dias P, Custódio N, Sousa AB, Carmo-Fonseca M, Carvalho C, Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.
Life science alliance 8: 2025
PubMed ID: 39741007 View Samples

Sanchez KL, Kim J, White JB, Tolan A, Rajagopal NP, Anderson DW, Shin AN, Shin SD, Currais A, Soriano-Castell D, Maher P, Soriano S, Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C.
International journal of molecular sciences 26: 2025
PubMed ID: 40243519 View Samples

Secchia S, Beilinson V, Chen X, Gucwa M, Denson LA, Miraldi ER, Weirauch MT, Ikegami K, Starvation activates ECM-remodeling gene transcription and putative enhancers in fibroblasts despite inducing quiescence.
Cell reports 44:115896 2025
PubMed ID: 40560730 View Samples

Tian SZ, Yang Y, Ning D, Yu T, Gao T, Deng Y, Fang K, Xu Y, Jing K, Huang G, Chen G, Yin P, Li Y, Zeng F, Tian R, Zheng M, Landscape of the Epstein-Barr virus-host chromatin interactome and gene regulation.
The EMBO journal 44:3872-3915 2025
PubMed ID: 40425856 View Samples

Silverstein S, Cassini T, Fu J, Pusey B, Macnamara E, Frost FG, Williams C, Huang Y, Tifft CJ, Undiagnosed Diseases Network CJ, Gahl W, Malicdan MC, Adams DR, RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Molecular genetics and metabolism 145:109105 2025
PubMed ID: 40215727 View Samples

Longo GMC, Sayols S, Kotini AG, Heinen S, Möckel MM, Beli P, Roukos V, Linking CRISPR-Cas9 double-strand break profiles to gene editing precision with BreakTag.
Nature biotechnology : 2025
PubMed ID: 38740992 View Samples

Wu X, Xiong D, Liu R, Lai X, Tian Y, Xie Z, Chen L, Hu L, Duan J, Gao X, Zeng X, Dong W, Xu T, Fu F, Yang X, Cheng X, Plewczynski D, Kim M, Xin W, Wang T, Xiang AP, Tang Z, Evolutionary divergence in CTCF-mediated chromatin topology drives transcriptional innovation in humans.
Nature communications 16:2941 2025
PubMed ID: 40140405 View Samples

Nasrallah NA, Lee B, Wiese BM, Karam MN, Mickler EA, Zhou H, Paolelli N, Stearman RS, Geraci MW, Sears CR, Cigarette Smoke and Decreased DNA Repair by Xeroderma Pigmentosum Group C Use a Double Hit Mechanism for Epithelial Cell Lung Carcinogenesis.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 40060594 View Samples

Nugue G, Martins M, Vitória G, Guimaraes BLML, Quiñones-Vega M, Rehen S, Guimarães MZ, Junqueira M, Optimized pipeline for personalized neurobiological insights from single patient-derived Neurospheres.
Journal of proteomics :105368 2025
PubMed ID: 39657900 View Samples

Means JC, Martinez-Bengochea AL, Louiselle DA, Nemechek JM, Perry JM, Farrow EG, Pastinen T, Younger ST, Rapid and scalable personalized ASO screening in patient-derived organoids.
Nature 638:237-243 2025
PubMed ID: 39843740 View Samples

Santoso JW, Do SK, Verma R, Do AV, Hendricks E, Ichida JK, McCain ML, Human iPSC-Derived Motor Neuron Innervation Enhances the Differentiation of Muscle Bundles Engineered with Benchtop Fabrication Techniques.
ACS biomaterials science & engineering 11:1731-1740 2025
PubMed ID: 39973396 View Samples

Sheth AS, Chan KK, Liu S, Wan J, Angus SP, Rhodes SD, Mitchell DK, Davis C, Ridinger M, Croucher PJ, Zeidan AM, Wijeratne A, Qian S, Tran NT, Sierra Potchanant EA, PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia.
Cancer research communications 5:648-667 2025
PubMed ID: 40111122 View Samples

Tahanis A, Nguyen T, Oji S, Martinez de Kraatz M, Jayasi J, Anderson M, Krencik R, Glucocerebrosidase Deficiency Dysregulates Human Astrocyte Lipid Metabolism.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 39868243 View Samples

Zhao S, Sinson JC, Li S, Rosenfeld JA, Zapata G, Macakova K, Pena M, Maywald B, Worley KC, Burrage L, Hubshman MW, Ketkar S, Craigen W, Emrick L, Undiagnosed Diseases Network L, Clark T, Lithwick GY, Shipony Z, Eng C, Lee B, Liu P, The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.
medRxiv : the preprint server for health sciences : 2025
PubMed ID: 39974001 View Samples

Röttgering B, Testerink J, Weij R, Beekman C, Datson N, Accurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.
Molecular neurobiology : 2025
PubMed ID: 40450087 View Samples

Sprecher U, Dsouza J, Marisat M, Barasch D, Mishra K, Kakhlon O, Manor J, Anikster Y, Weil M, In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.
Molecular genetics and metabolism reports 42:101172 2025
PubMed ID: 39802097 View Samples

Verner EL, Jackson JB, Maddox C, Valkenburg KC, White JR, Occean J, Morris L, Karandikar A, Gerding KMR, Sausen M, Koohestani F, Severson EA, Jensen TJ, Caveney BJ, Eisenberg M, Ramkissoon SH, Greer AE, Analytical Validation of the Labcorp Plasma Complete Test, a Cell-Free DNA Comprehensive Genomic Profiling Tool for Precision Oncology.
The Journal of molecular diagnostics : JMD 27:216-231 2025
PubMed ID: 39818317 View Samples

Zetterdahl OG, Crowe JA, Reyhani S, Güra MA, Labastida-Botey O, Girard AS, Froese DS, Ahlenius H, Canals I, Generation of iPSC Lines with Tagged a-Synuclein for Visualization of Endogenous Protein in Human Cellular Models of Neurodegenerative Disorders.
eNeuro 12: 2025
PubMed ID: 40456614 View Samples

You H, Havey L, Li Z, Wang Y, Asara JM, Guo R, Epstein-Barr virus-driven cardiolipin synthesis sustains metabolic remodeling during B cell transformation.
Science advances 11:eadr8837 2025
PubMed ID: 39879311 View Samples

Walvekar AS, Warmoes M, Cheung D, Sikora T, Seyedkatouli N, Gomez-Giro G, Perrone S, Dengler L, Unger F, Santos BFR, Gavotto F, Dong X, Becker-Kettern J, Kwon YJ, Jäger C, Schwamborn JC, Van Bergen NJ, Christodoulou J, Linster CL, Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.
Cellular & molecular biology letters 30:3 2025
PubMed ID: 39789421 View Samples

Sabir MS, Pollard L, Wolfe L, Adams DR, Ciccone C, Leoyklang P, Platt FM, Huizing M, Gahl WA, Malicdan MCV, Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
JIMD reports 66:e70029 2025
PubMed ID: 40529477 View Samples

Wu H, Wang M, Zheng Y, Xie XS, Droplet-based high-throughput 3D genome structure mapping of single cells with simultaneous transcriptomics.
Cell discovery 11:8 2025
PubMed ID: 39837831 View Samples

Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K, Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Nature 638:172-181 2025
PubMed ID: 39743596 View Samples

Xiao H, Liang Z, Gong X, Jordan SN, Rossello-Martinez A, Gokhan I, Li X, Wen Z, Lee S, Campbell SG, Qyang Y, Mak M, Application of instant assembly of collagen to bioprint cardiac tissues.
APL bioengineering 9:026124 2025
PubMed ID: 40520649 View Samples

Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA, Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts.
PloS one 20:e0319350 2025
PubMed ID: 40338959 View Samples

Zhou N, Chen J, Hu M, Wen N, Cai W, Li P, Zhao L, Meng Y, Zhao D, Yang X, Liu S, Huang F, Zhao C, Feng X, Jiang Z, Xie E, Pan H, Cen Z, Chen X, Luo W, Tang B, Min J, Wang F, Yang J, Xu H, SLC7A11 is an unconventional H.
Cell : 2025
PubMed ID: 40280132 View Samples

Zuhra K, Petrosino M, Janickova L, Petric J, Ascenção K, Vignane T, Khalaf M, Philipp TM, Ravani S, Anand A, Martins V, Santos S, Erdemir S, Malkondu S, Sitek B, Kelestemur T, Kieronska-Rudek A, Majtan T, Filgueira L, Maric D, Chlopicki S, Hoogewijs D, Haskó G, Papapetropoulos A, Logue BA, Boss GR, Filipovic MR, Szabo C, Regulation of mammalian cellular metabolism by endogenous cyanide production.
Nature metabolism 7:531-555 2025
PubMed ID: 40033006 View Samples

Zhou Y, Su Y, Yang Q, Li J, Hong Y, Gao T, Zhong Y, Ma X, Jin M, Liu X, Yuan N, Kennedy BC, Wang L, Yan L, Viaene AN, Helbig I, Kessler SK, Kleinman JE, Hyde TM, Nauen DW, Liu C, Liu Z, Shen Z, Li C, Xu S, He J, Weinberger DR, Ming GL, Song H, Comparative molecular landscapes of immature neurons in the mammalian dentate gyrus across species reveal special features in humans.
bioRxiv : the preprint server for biology : 2025
PubMed ID: 40027814 View Samples

Burbach KF, Yoo AS, Notch Inhibition Enhances Morphological Reprogramming of microRNA-Induced Human Neurons.
bioRxiv : the preprint server for biology : 2024
PubMed ID: 38260259 View Samples

Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders.
ACS synthetic biology 13:3926-3935 2024
PubMed ID: 39565688 View Samples

Balashova OA, Panoutsopoulos AA, Visina O, Selhub J, Knoepfler PS, Borodinsky LN, Noncanonical function of folate through folate receptor 1 during neural tube formation.
Nature communications 15:1642 2024
PubMed ID: 38388461 View Samples

Akamatsu S, Mitsuhashi S, Soga K, Mizukami H, Shiraishi M, Frith MC, Yamano Y, Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.
Scientific reports 14:25161 2024
PubMed ID: 39448697 View Samples

Esposito A, Seri T, Breccia M, Indrigo M, De Rocco G, Nuzzolillo F, Denti V, Pappacena F, Tartaglione G, Serrao S, Paglia G, Murru L, de Pretis S, Cioni JM, Landsberger N, Guarnieri FC, Palmieri M, Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models.
EMBO molecular medicine 16:2795-2826 2024
PubMed ID: 39402139 View Samples

Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM, GACR Bird's Eye View Consortium MM, Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S, Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Molecular genetics and metabolism 143:108542 2024
PubMed ID: 39053126 View Samples

Amiri F, Mistriotis P, Leveraging Cell Migration Dynamics to Discriminate Between Senescent and Presenescent Human Mesenchymal Stem Cells.
Cellular and molecular bioengineering 17:385-399 2024
PubMed ID: 39513008 View Samples

A Single-Cell Metabolic Profiling Characterizes Human Aging via SlipChip-SERS, Fugang Liu, Jiaqing Liu, Yang Luo, Siyi Wu, Xu Liu, Haoran Chen, Zhewen Luo, Haitao Yuan, Feng Shen, Fangfang Zhu, Jian Ye.
Adv Sci (Weinh). : 2024
PubMed ID: 39231358 View Samples

Adjemout M, Gallardo F, Torres M, Thiam A, Mbengue B, Dieye A, Marquet S, Rihet P, From Genome-wide Association Studies to Functional Variants: ARL14 Cis-regulatory Variants Are Associated With Severe Malaria.
The Journal of infectious diseases 230:e743-e752 2024
PubMed ID: 38531688 View Samples

Hwang DG, Choi H, Yong U, Kim D, Kang W, Park SM, Jang J, Bioprinting-Assisted Tissue Assembly for Structural and Functional Modulation of Engineered Heart Tissue Mimicking Left Ventricular Myocardial Fiber Orientation.
Advanced materials (Deerfield Beach, Fla) :e2400364 2024
PubMed ID: 38717016 View Samples

Alghadeer A, Patni AP, Li Z, Lim YC, Mathieu J, Ruohola-Baker H, Protocol for generating three-dimensional induced early ameloblasts using serum-free media and growth factors.
STAR protocols 5:103100 2024
PubMed ID: 38824640 View Samples

Burbach KF, Yoo AS, Notch Inhibition Enhances Morphological Reprogramming of microRNA-Induced Human Neurons.
bioRxiv : the preprint server for biology : 2024
PubMed ID: 38260259 View Samples

Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2) DL, Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C, African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Nature structural & molecular biology 31:1955-1963 2024
PubMed ID: 39668204 View Samples

Arnaoutova I, Aratyn-Schaus Y, Zhang L, Packer MS, Chen HD, Lee C, Gautam S, Gregoire FM, Leboeuf D, Boule S, Fernandez TP, Huang V, Cheng LI, Lung G, Bannister B, Decker J, Leete T, Shuang LS, Bock C, Kothiyal P, Grayson P, Mok KW, Quinn JJ, Young L, Barrera L, Ciaramella G, Mansfield BC, Chou JY, Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Nature communications 15:9729 2024
PubMed ID: 39523369 View Samples

Carregari VC, Reis-de-Oliveira G, Crunfli F, Smith BJ, de Souza GF, Muraro SP, Saia-Cereda VM, Vendramini PH, Baldasso PA, Silva-Costa LC, Zuccoli GS, Brandão-Teles C, Antunes A, Valença AF, Davanzo GG, Virgillio-da-Silva JV, Dos Reis Araújo T, Guimarães RC, Chaim FDM, Chaim EA, Kawagosi Onodera CM, Ludwig RG, Saccon TD, Damásio ARL, Leiria LOS, Vinolo MAR, Farias AS, Moraes-Vieira PM, Mori MA, Módena JLP, Martins-de-Souza D, Diving into the proteomic atlas of SARS-CoV-2 infected cells.
Scientific reports 14:7375 2024
PubMed ID: 38548777 View Samples

Azaria RD, Correia AB, Schache KJ, Zapata M, Pathmasiri KC, Mohanty V, Nannapaneni DT, Ashfeld BL, Helquist P, Wiest O, Ohgane K, Li Q, Fredenburg RA, Blagg BS, Cologna SM, Schultz ML, Lieberman AP, Mutant induced neurons and humanized mice enable identification of Niemann-Pick C1 proteostatic therapies.
JCI insight : 2024
PubMed ID: 39207850 View Samples

Chailapakul P, Maeda J, Kato TA, ATM dysfunction in Chinese hamster XRCC8 mutants.
Biochemical and biophysical research communications 736:150491 2024
PubMed ID: 39142236 View Samples

Chang MM, Natoli ME, Wilkinson AF, Tubman VN, Airewele GE, Richards-Kortum RR, A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection.
Lab on a chip 24:4115-4127 2024
PubMed ID: 39051493 View Samples

Bedzinska A, Lasut-Szyszka B, Krzesniak M, Gdowicz-Klosok A, Rusin M, The puzzling regulation of the interferon signaling system by the p53 tumor suppressor protein.
Cellular and molecular life sciences : CMLS 82:233 2024
PubMed ID: 40512405 View Samples

Bækgaard CH, Lester EB, Møller-Larsen S, Lauridsen MF, Larsen MJ, NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.
Annals of human genetics : 2024
PubMed ID: 38690755 View Samples

Ewoldt JK, Wang MC, McLellan MA, Cloonan PE, Chopra A, Gorham J, Li L, DeLaughter DM, Gao X, Lee JH, Willcox JAL, Layton O, Luu RJ, Toepfer CN, Eyckmans J, Seidman CE, Seidman JG, Chen CS, Hypertrophic cardiomyopathy-associated mutations drive stromal activation via EGFR-mediated paracrine signaling.
Science advances 10:eadi6927 2024
PubMed ID: 39413182 View Samples

Bali GK, Cuenca D, Wallin J, Effects and considerations of multiplexing ForenSeq Kintelligence libraries with a negative control.
Electrophoresis 45:852-866 2024
PubMed ID: 38449358 View Samples

Burbach KF, Wu S, Yoo AS, Notch inhibition enhances morphological reprogramming of microRNA-induced human neurons.
Stem cells (Dayton, Ohio) 43: 2024
PubMed ID: 39573925 View Samples

Abruzzo A, Pucci R, Abruzzo PM, Canaider S, Parolin C, Vitali B, Valle F, Brucale M, Cerchiara T, Luppi B, Bigucci F, Azithromycin-loaded liposomes and niosomes for the treatment of skin infections: Influence of excipients and preparative methods on the functional properties.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik eV 197:114233 2024
PubMed ID: 38387849 View Samples

Berlind JE, Lai JD, Lie C, Vicente J, Lam K, Guo S, Chang J, Yu V, Ichida JK, KCTD20 suppression mitigates excitotoxicity in tauopathy patient organoids.
Neuron : 2024
PubMed ID: 40049159 View Samples

Karbassi E, Padgett R, Bertero A, Reinecke H, Klaiman JM, Yang X, Hauschka SD, Murry CE, Targeted CRISPR activation is functional in engineered human pluripotent stem cells but undergoes silencing after differentiation into cardiomyocytes and endothelium.
Cellular and molecular life sciences : CMLS 81:95 2024
PubMed ID: 38372898 View Samples

Calhoun CC, Kan SH, Stover AE, Harb JF, Monuki ES, Wang RY, Schwartz PH, Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice.
Molecular therapy Methods & clinical development 32:101367 2024
PubMed ID: 39764351 View Samples

Chien CW, Tang YA, Jeng SL, Pan HA, Sun HS, Blastocyst telomere length predicts successful implantation after frozen-thawed embryo transfer.
Human reproduction open 2024:hoae012 2024
PubMed ID: 38515829 View Samples

Cao H, Yue L, Shao J, Kong F, Liu S, Huai H, He Z, Mao Z, Yang Y, Tan Y, Wang H, Small extracellular vesicles derived from umbilical cord mesenchymal stem cells alleviate radiation-induced cardiac organoid injury.
Stem cell research & therapy 15:493 2024
PubMed ID: 39707562 View Samples

De Serres-Bérard T, Jauvin D, Pouliot V, Puymirat J, Chahine M, Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy.
Stem cell research 77:103430 2024
PubMed ID: 38704930 View Samples

Ferreira LGA, Cabral-da-Silva MC, Pachernegg S, van den Bergen JA, Robevska G, Vlahos K, Howden SE, Ng ES, Dias-da-Silva MR, Sinclair AH, Ayers KL, Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.
Stem cell research 76:103374 2024
PubMed ID: 38458031 View Samples

Gomez Ramos B, Ohnmacht J, de Lange N, Valceschini E, Ginolhac A, Catillon M, Ferrante D, Rakovic A, Halder R, Massart F, Arena G, Antony P, Bolognin S, Klein C, Krause R, Schulz MH, Sauter T, Krüger R, Sinkkonen L, Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.
EMBO reports : 2024
PubMed ID: 38177910 View Samples

Dorion MF, Yaqubi M, Senkevich K, Kieran NW, MacDonald A, Chen CX, Luo W, Wallis A, Shlaifer I, Hall JA, Dudley RWR, Glass IA, Birth Defects Research Laboratory IA, Stratton JA, Fon E, Bartels T, Antel JP, Gan-Or Z, Durcan TM, Healy LM, MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
Brain : a journal of neurology : 2024
PubMed ID: 37671615 View Samples

Chen WJ, Chao YY, Huang WK, Chang WF, Tzeng CR, Chuang CH, Lai PL, Schuyler SC, Li LY, Lu J, Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.
Cell death discovery 10:468 2024
PubMed ID: 39543104 View Samples

Daniel R, Raymond J, Sears A, Stock A, Scudder N, Padmabandu G, Kumar SA, Snedecor J, Antunes J, Hartman D, It's all relative: A multi-generational study using ForenSeq™ Kintelligence.
Forensic science international 364:112208 2024
PubMed ID: 39232402 View Samples

Burbach KF, Wu S, Yoo AS, Notch inhibition enhances morphological reprogramming of microRNA-induced human neurons.
Stem cells (Dayton, Ohio) 43: 2024
PubMed ID: 39573925 View Samples

Hamamoto A, Kita N, Gowda SGB, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease.
Cell structure and function : 2024
PubMed ID: 38072450 View Samples

Bobo TA, Robinson M, Tofade C, Sokolski-Papkov M, Nichols P, Vorobiov S, Fu H, AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo.
Journal of extracellular vesicles 13:e12464 2024
PubMed ID: 38961538 View Samples

Chan J, Holdstock J, Shovelton J, Reid J, Speight G, Molha D, Pullabhatla V, Carpenter S, Uddin E, Washio T, Sato H, Izumi Y, Watanabe R, Niiro H, Fukushima Y, Ashida N, Hirose T, Maeda A, Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.
PloS one 19:e0305422 2024
PubMed ID: 38870140 View Samples

Bai X, Chen Z, Chen K, Wu Z, Wang R, Liu J, Chang L, Wen L, Tang F, Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq.
Cell discovery 10:74 2024
PubMed ID: 38977679 View Samples

Karolina Wiśniewska, Estera Rintz, Magdalena Żabińska, Lidia Gaffke, Magdalena Podlacha, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska, Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients .
Biochemical and Biophysical Research Communications 733: 2024
PubMed ID: 39305572 View Samples

Lee YJ, Cho B, Kwon D, Kim Y, An S, Kang S, Kim J, Catalpol promotes the generation of cerebral organoids with oRGs through activation of STAT3 signaling.
Bioengineering & translational medicine 10:e10746 2024
PubMed ID: 40385540 View Samples

Cassini T, Silverstein S, Behan M, Tifft CJ, Malicdan MC, Adams DR, Undiagnosed Diseases Network DR, Ahn SY, Regier DS, Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.
JIMD reports 66:e12459 2024
PubMed ID: 39723123 View Samples

Fatima N, Dillen L, Hommersom MP, Çepni E, Fatima F, van Beusekom E, Albert S, Ali Khan A, de Brouwer APM, van Bokhoven H, Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9.
Stem cell research 80:103511 2024
PubMed ID: 39098170 View Samples

Chen X, Shi Y, Generating Homogeneous Brain Organoids from Human iPSCs.
Methods in molecular biology (Clifton, NJ) 2794:157-167 2024
PubMed ID: 38630227 View Samples

Kim H, Kim SJ, Upregulation of peroxisome proliferator-activated receptor ? with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases.
The international journal of biochemistry & cell biology 174:106631 2024
PubMed ID: 39038642 View Samples

Ghorai A, Saha S, Rao BJ, PARP-1 negatively regulates nucleolar protein pool and mitochondrial activity: a cell protective mechanism.
Genes and environment : the official journal of the Japanese Environmental Mutagen Society 46:18 2024
PubMed ID: 39294821 View Samples

Gutierrez-Camino A, Caron M, Richer C, Fuchs C, Illarregi U, Poncelet L, St-Onge P, Bataille AR, Tremblay-Dauphinais P, Lopez-Lopez E, Camos M, Ramirez-Orellana M, Astigarraga I, Lécuyer É, Bourque G, Martin-Guerrero I, Sinnett D, CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in.
International journal of molecular sciences 25: 2024
PubMed ID: 38338754 View Samples

Eldin P, David A, Hirtz C, Battini JL, Briant L, SARS-CoV-2 Displays a Suboptimal Codon Usage Bias for Efficient Translation in Human Cells Diverted by Hijacking the tRNA Epitranscriptome.
International journal of molecular sciences 25: 2024
PubMed ID: 39519170 View Samples

Duran I, Pombo J, Sun B, Gallage S, Kudo H, McHugh D, Bousset L, Barragan Avila JE, Forlano R, Manousou P, Heikenwalder M, Withers DJ, Vernia S, Goldin RD, Gil J, Detection of senescence using machine learning algorithms based on nuclear features.
Nature communications 15:1041 2024
PubMed ID: 38310113 View Samples

Gharaba S, Sprecher U, Baransi A, Muchtar N, Weil M, Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status.
Neurobiology of disease 201:106667 2024
PubMed ID: 39284371 View Samples

Meloche M, Pilon MO, Provost S, Leclair G, Oussaïd E, St-Jean I, Jutras M, Gaulin MJ, Lemieux Perreault LP, Valois D, Mongrain I, Busseuil D, Rouleau JL, Tardif JC, Dubé MP, de Denus S, A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol.
Journal of personalized medicine 14: 2024
PubMed ID: 38929870 View Samples

Moura S, Hartl I, Brumovska V, Calabrese PP, Yasari A, Striedner Y, Bishara M, Mair T, Ebner T, Schütz GJ, Sevcsik E, Tiemann-Boege I, Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
Genome biology and evolution 16: 2024
PubMed ID: 38411226 View Samples

Krishnamurthy K, Chai J, Liu X, Wang Y, Naeem R, Goldstein DY, Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.
American journal of clinical pathology 162:480-491 2024
PubMed ID: 38823030 View Samples

Frenz-Wiessner S, Fairley SD, Buser M, Goek I, Salewskij K, Jonsson G, Illig D, Zu Putlitz B, Petersheim D, Li Y, Chen PH, Kalauz M, Conca R, Sterr M, Geuder J, Mizoguchi Y, Megens RTA, Linder MI, Kotlarz D, Rudelius M, Penninger JM, Marr C, Klein C, Generation of complex bone marrow organoids from human induced pluripotent stem cells.
Nature methods : 2024
PubMed ID: 38374263 View Samples

Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL, Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Prenatal diagnosis 44:304-316 2024
PubMed ID: 38411249 View Samples

Kojak N, Kuno J, Fittipaldi KE, Khan A, Wenger D, Glasser M, Donnianni RA, Tang Y, Zhang J, Huling K, Ally R, Mujica AO, Turner T, Magardino G, Huang PY, Kerk SY, Droguett G, Prissette M, Rojas J, Gomez T, Gagliardi A, Hunt C, Rabinowitz JS, Gong G, Poueymirou W, Chiao E, Zambrowicz B, Siao CJ, Kajimura D, Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.
Nucleic acids research : 2024
PubMed ID: 38597682 View Samples

Lim SW, Lee KI, Cui S, Fang X, Shin YJ, Lee H, Lee JY, Chung BH, Yang CW, Generation of green fluorescent protein reporter knock-in iPSC line at the 3'UTR region of the KLOTHO locus.
Stem cell research 80:103499 2024
PubMed ID: 39111000 View Samples

Chen X, Shi Y, Generating Homogeneous Brain Organoids from Human iPSCs.
Methods in molecular biology (Clifton, NJ) 2794:157-167 2024
PubMed ID: 38630227 View Samples

Inamo J, Suzuki A, Ueda MT, Yamaguchi K, Nishida H, Suzuki K, Kaneko Y, Takeuchi T, Hatano H, Ishigaki K, Ishihama Y, Yamamoto K, Kochi Y, Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms.
Nature communications 15:4285 2024
PubMed ID: 38806455 View Samples

Deng S, Liu TA, Ilnytska O, Allada T, Fomina A, Lin N, Petukhova VZ, Pathmasiri KC, Chinthapally K, Blagg BSJ, Ashfeld BL, Cologna SM, Storch J, Molecular determinants of phospholipid treatment to reduce intracellular cholesterol accumulation in NPC1 deficiency.
The Journal of biological chemistry 300:107889 2024
PubMed ID: 39395801 View Samples

Kotlov N, Shaposhnikov K, Tazearslan C, Chasse M, Baisangurov A, Podsvirova S, Fernandez D, Abdou M, Kaneunyenye L, Morgan K, Cheremushkin I, Zemskiy P, Chelushkin M, Sorokina M, Belova E, Khorkova S, Lozinsky Y, Nuzhdina K, Vasileva E, Kravchenko D, Suryamohan K, Nomie K, Curran J, Fowler N, Bagaev A, Procrustes is a machine-learning approach that removes cross-platform batch effects from clinical RNA sequencing data.
Communications biology 7:392 2024
PubMed ID: 38555407 View Samples

Kalia AK, Rösseler C, Granja-Vazquez R, Ahmad A, Pancrazio JJ, Neureiter A, Zhang M, Sauter D, Vetter I, Andersson A, Dussor G, Price TJ, Kolber BJ, Truong V, Walsh P, Lampert A, How to differentiate induced pluripotent stem cells into sensory neurons for disease modelling: a functional assessment.
Stem cell research & therapy 15:99 2024
PubMed ID: 38581069 View Samples

Khalil NN, Rexius-Hall ML, Gupta D, McCarthy L, Verma R, Kellogg AC, Takamoto K, Xu M, Nejatpoor T, Parker SJ, McCain ML, Hypoxic-Normoxic Crosstalk Activates Pro-Inflammatory Signaling in Human Cardiac Fibroblasts and Myocytes in a Post-Infarct Myocardium on a Chip.
Advanced healthcare materials :e2401478 2024
PubMed ID: 39001626 View Samples

Gallego D, Serrano M, Cordoba-Caballero J, Gámez A, Seoane P, Perkins JR, Ranea JAG, Pérez B, Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Biochimica et biophysica acta Molecular basis of disease 1870:167163 2024
PubMed ID: 38599261 View Samples

Hirayama H, Tachida Y, Fujinawa R, Matsuda Y, Murase T, Nishiuchi Y, Suzuki T, Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity.
The Journal of biological chemistry 300:107121 2024
PubMed ID: 38417795 View Samples

Ging K, Frick L, Schlachetzki J, Armani A, Zhu Y, Gilormini PA, Dhingra A, Böck D, Marques A, Deen M, Chen X, Serdiuk T, Trevisan C, Sellitto S, Pisano C, Glass CK, Heutink P, Yin JA, Vocadlo DJ, Aguzzi A, Direct and indirect regulation of ß-glucocerebrosidase by the transcription factors USF2 and ONECUT2.
NPJ Parkinson's disease 10:192 2024
PubMed ID: 39438499 View Samples

Quail MA, Corton C, Uphill J, Keane J, Gu Y, Identifying the best PCR enzyme for library amplification in NGS.
Microbial genomics 10: 2024
PubMed ID: 38578268 View Samples

Ortea I, Rodríguez-Martínez L, Carrera M, Fafián-Labora JA, Arufe MC, González-Barcia M, Fernández-Ferreiro A, Mateos J, ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 181:117650 2024
PubMed ID: 39504626 View Samples

Li R, Tsuboi H, Ito H, Takagi D, Chang YH, Shimizu T, Arai Y, Matsuo-Takasaki M, Noguchi M, Nakamura Y, Ohnuma K, Takahashi S, Hayashi Y, Generation of human induced pluripotent stem cell lines derived from two glucose transporter 1 deficiency syndrome patients.
Stem cell research 81:103584 2024
PubMed ID: 39490212 View Samples

Karimnezhad A, Perkins TJ, Empirical Bayes single nucleotide variant-calling for next-generation sequencing data.
Scientific reports 14:1550 2024
PubMed ID: 38233494 View Samples

Hawkins S, Mondaini A, Namboori SC, Nguyen GG, Yeo GW, Javed A, Bhinge A, ePRINT: exonuclease assisted mapping of protein-RNA interactions.
Genome biology 25:140 2024
PubMed ID: 38807229 View Samples

Li Y, Li Z, Grillo E, Desler C, Navarro C, Bohr VA, Berliocchi L, Rasmussen LJ, Human fibroblasts from sporadic Alzheimer's disease (AD) patients show mitochondrial alterations and lysosome dysfunction.
Free radical biology & medicine 222:569-578 2024
PubMed ID: 39009245 View Samples

Olazabal-Herrero A, He B, Kwon Y, Gupta AK, Dutta A, Huang Y, Boddu P, Liang Z, Liang F, Teng Y, Lan L, Chen X, Pei H, Pillai MM, Sung P, Kupfer GM, The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export.
Cell reports 43:113610 2024
PubMed ID: 38165804 View Samples

Halder SS, Rynkiewicz MJ, Kim L, Barry ME, Zied AG, Sewanan LR, Kirk JA, Moore JR, Lehman WJ, Campbell SG, Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.
The Journal of clinical investigation 134: 2024
PubMed ID: 39436707 View Samples

Kataura T, Sedlackova L, Sun C, Kocak G, Wilson N, Banks P, Hayat F, Trushin S, Trushina E, Maddocks ODK, Oblong JE, Miwa S, Imoto M, Saiki S, Erskine D, Migaud ME, Sarkar S, Korolchuk VI, Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models.
Cell death & disease 15:382 2024
PubMed ID: 38821960 View Samples

Dietz A, Subedi P, Azimzadeh O, Duchrow L, Kaestle F, Paetzold J, Katharina Payer S, Hornhardt S, von Toerne C, Hauck SM, Kempkes B, Kuklik-Roos C, Brandes D, Borkhardt A, Moertl S, Gomolka M, The Chromosome Passenger Complex (CPC) Components and Its Associated Pathways Are Promising Candidates to Differentiate Between Normosensitive and Radiosensitive ATM-Mutated Cells.
Biomarker insights 19:11772719241274017 2024
PubMed ID: 39493730 View Samples

Liao Y, Yan J, Beri NR, Giulino-Roth L, Cesarman E, Gewurz BE, Germinal center cytokine driven epigenetic control of Epstein-Barr virus latency gene expression.
PLoS pathogens 20:e1011939 2024
PubMed ID: 38683861 View Samples

Ottesen EW, Seo J, Luo D, Singh NN, Singh RN, A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes.
Nucleic acids research : 2024
PubMed ID: 38214229 View Samples

Montpeyo M, Pérez-Carmona N, Cubero E, Delgado A, Ruano A, Carrillo J, Bellotto M, Martinez-Vicente M, Garcia-Collazo AM, Developing Allosteric Chaperones for.
International journal of molecular sciences 26: 2024
PubMed ID: 39795868 View Samples

Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A, N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Glycobiology 34: 2024
PubMed ID: 39360848 View Samples

Hu T, Mosbruger TL, Tairis NG, Dinou A, Jayaraman P, Sarmady M, Brewster K, Li Y, Hayeck TJ, Duke JL, Monos DS, Targeted and complete genomic sequencing of the Major Histocompatibility Complex in haplotypic form of individual heterozygous samples.
Genome research : 2024
PubMed ID: 39327030 View Samples

Merav M, Bitensky EM, Heilbrun EE, Hacohen T, Kirshenbaum A, Golan-Berman H, Cohen Y, Adar S, Gene architecture is a determinant of the transcriptional response to bulky DNA damages.
Life science alliance 7: 2024
PubMed ID: 38167611 View Samples

Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC, Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
NPJ genomic medicine 9:66 2024
PubMed ID: 39695126 View Samples

Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.
Biology of sex differences 15:24 2024
PubMed ID: 38520033 View Samples

Juliar BA, Stanaway IB, Sano F, Fu H, Smith KD, Akilesh S, Scales SJ, El Saghir J, Bhatraju PK, Liu E, Yang J, Lin J, Eddy S, Kretzler M, Zheng Y, Himmelfarb J, Harder JL, Freedman BS, Interferon-? induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease.
Cell reports 43:114310 2024
PubMed ID: 38838223 View Samples

Marcella BM, Hockey BL, Braun JL, Whitley KC, Geromella MS, Baranowski RW, Watson CJF, Silvera S, Hamstra SI, Wasilewicz LJ, Crozier RWE, Marais AAT, Kim KH, Lee G, Vandenboom R, Roy BD, MacNeil AJ, MacPherson REK, Fajardo VA, GSK3 inhibition improves skeletal muscle function and whole-body metabolism in male mouse models of Duchenne muscular dystrophy.
Nature communications 15:10210 2024
PubMed ID: 39587049 View Samples

Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation.
Clinica chimica acta; international journal of clinical chemistry 552:117647 2024
PubMed ID: 37951377 View Samples

Hartinger R, Singh K, Leverett J, Djabali K, Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts.
Biomolecules 14: 2024
PubMed ID: 39456243 View Samples

Min S, Kim S, Sim WS, Choi YS, Joo H, Park JH, Lee SJ, Kim H, Lee MJ, Jeong I, Cui B, Jo SH, Kim JJ, Hong SB, Choi YJ, Ban K, Kim YG, Park JU, Lee HA, Park HJ, Cho SW, Versatile human cardiac tissues engineered with perfusable heart extracellular microenvironment for biomedical applications.
Nature communications 15:2564 2024
PubMed ID: 38519491 View Samples

Errichiello E, Lecca M, Vantaggiato C, Motta Z, Zanotta N, Zucca C, Bertuzzo S, Piubelli L, Pollegioni L, Bonaglia MC, Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.
European journal of human genetics : EJHG : 2024
PubMed ID: 38605125 View Samples

Matsuura H, Akahane S, Kaido T, Kamijo T, Sakamoto K, Yamauchi K, Apolipoprotein E isoforms and their Cys-thiol modifications impact LRP1-mediated metabolism of triglyceride-rich lipoproteins.
FEBS letters : 2024
PubMed ID: 38279679 View Samples

Padmanabhan A, de Soysa TY, Pelonero A, Sapp V, Shah PP, Wang Q, Li L, Lee CY, Sadagopan N, Nishino T, Ye L, Yang R, Karnay A, Poleshko A, Bolar N, Linares-Saldana R, Ranade SS, Alexanian M, Morton SU, Jain M, Haldar SM, Srivastava D, Jain R, A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation.
Nature cardiovascular research 3:317-331 2024
PubMed ID: 39196112 View Samples

Nyame K, Xiong J, Alsohybe HN, de Jong APH, Peña IV, de Miguel R, Brummelkamp TR, Hartmann G, Nijman SMB, Raaben M, Simcox JA, Blomen VA, Abu-Remaileh M, PLA2G15 is a BMP hydrolase and its targeting ameliorates lysosomal disease.
Nature 642:474-483 2024
PubMed ID: 40335701 View Samples

Gnimpieba E, Diing DM, Ailts J, Cucak A, Gakh O, Isaya G, Vitiello S, Wang S, Pierce P, Cooper A, Roux K, Rogers LK, Vitiello PF, Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions.
Research square : 2024
PubMed ID: 38746130 View Samples

James R, Faller KME, Groen EJN, Wirth B, Gillingwater TH, Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy.
Communications medicine 4:86 2024
PubMed ID: 38750213 View Samples

Middlezong W, Stinnett V, Phan M, Phan B, Morsberger L, Klausner M, Ghabrial J, DeMetrick N, Zhu J, James T, Pallavajjala A, Gocke CD, Baer MR, Zou YS, Rapid Detection of.
Biomolecules 14: 2024
PubMed ID: 39766302 View Samples

Sirocchi C, Biancucci F, Donati M, Bogliolo A, Magnani M, Menotta M, Montagna S, Exploring machine learning for untargeted metabolomics using molecular fingerprints.
Computer methods and programs in biomedicine 250:108163 2024
PubMed ID: 38626559 View Samples

Pille M, Avila JM, Park SH, Le CQ, Xue H, Haerynck F, Saxena L, Lee C, Shpall EJ, Bao G, Vandekerckhove B, Davis BR, Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.
Molecular therapy Methods & clinical development 32:101208 2024
PubMed ID: 38414825 View Samples

Ulicevic J, Shao Z, Jasnovidova O, Bressin A, Gajos M, Ng AH, Annaldasula S, Meierhofer D, Church GM, Busskamp V, Mayer A, Uncovering the dynamics and consequences of RNA isoform changes during neuronal differentiation.
Molecular systems biology : 2024
PubMed ID: 38755290 View Samples

McFarland KN, Tiwari A, Hashem V, Zhang L, Zeng D, Vincent J, Arredondo MJ, Johnson KL, Gan SR, Yabe I, Skov L, Rasmussen A, Ashizawa T, Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
Human molecular genetics 33:1567-1574 2024
PubMed ID: 38832639 View Samples

Mathis D, Koch J, Koller S, Sauter K, Flück C, Uldry AC, Forny P, Froese DS, Laemmle A, Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Molecular genetics and metabolism reports 39:101066 2024
PubMed ID: 38425868 View Samples

Rouleau M, Villeneuve L, Allain EP, McCabe-Leroux J, Tremblay S, Nguyen Van Long F, Uchil A, Joly-Beauparlant C, Droit A, Guillemette C, Non-canonical transcriptional regulation of the poor prognostic factor UGT2B17 in chronic lymphocytic leukemic and normal B cells.
BMC cancer 24:410 2024
PubMed ID: 38566115 View Samples

Hoschek F, Natan J, Wagner M, Sathasivam K, Abdelmoez A, von Einem B, Bates GP, Landwehrmeyer GB, Neueder A, Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Molecular medicine (Cambridge, Mass) 30:36 2024
PubMed ID: 38459427 View Samples

Nielsen BS, Madsen NH, Larsen J, Skandorff I, Gad M, Holmstrøm K, Architectural organization and molecular profiling of 3D cancer heterospheroids and their application in drug testing.
Frontiers in oncology 14:1386097 2024
PubMed ID: 39011470 View Samples

Kolekar P, Balagopal V, Dong L, Liu Y, Foy S, Tran Q, Mulder H, Huskey AL, Plyler E, Liang Z, Ma J, Nakitandwe J, Gu J, Namwanje M, Maciaszek J, Payne-Turner D, Mallampati S, Wang L, Easton J, Klco JM, Ma X, SJPedPanel: A pan-cancer gene panel for childhood malignancies.
medRxiv : the preprint server for health sciences : 2024
PubMed ID: 38076942 View Samples

Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Biochimica et biophysica acta Molecular basis of disease :166993 2024
PubMed ID: 38142760 View Samples

Prondzynski M, Bortolin RH, Berkson P, Trembley MA, Shani K, Sweat ME, Mayourian J, Cordoves AM, Anyanwu NJ, Tharani Y, Cotton J, Milosh JB, Walker D, Zhang Y, Liu F, Liu X, Parker KK, Bezzerides VJ, Pu WT, Efficient and reproducible generation of human iPSC-derived cardiomyocytes using a stirred bioreactor.
bioRxiv : the preprint server for biology : 2024
PubMed ID: 38464269 View Samples

Pedroza Matute S, Turvey K, Iyavoo S, Advancing human genotyping: The Infinium HTS iSelect Custom microarray panel (Rita) development study.
Forensic science international Genetics 71:103049 2024
PubMed ID: 38653142 View Samples

Guo J, Jiang H, Schuftan D, Moreno JD, Ramahdita G, Aryan L, Bhagavan D, Silva J, Huebsch N, Substrate mechanics unveil early structural and functional pathology in iPSC micro-tissue models of hypertrophic cardiomyopathy.
iScience 27:109954 2024
PubMed ID: 38827401 View Samples

Kobaisi F, Sulpice E, Nasrallah A, Obeïd P, Fayyad-Kazan H, Rachidi W, Gidrol X, Synthetic rescue of Xeroderma Pigmentosum C phenotype via PIK3C3 downregulation.
Cell death & disease 15:847 2024
PubMed ID: 39562566 View Samples

Norheim KL, Ben Ezra M, Heckenbach I, Andreasson LM, Eriksen LL, Dyhre-Petersen N, Damgaard MV, Berglind M, Pricolo L, Sampson D, Dellinger RW, Sverrild A, Treebak JT, Ditlev SB, Porsbjerg C, Scheibye-Knudsen M, Effect of nicotinamide riboside on airway inflammation in COPD: a randomized, placebo-controlled trial.
Nature aging 4:1772-1781 2024
PubMed ID: 39548320 View Samples

So Jung Park, Sung Min Son, Antonio Daniel Barbosa , Lidia Wrobel, Eleanna Stamatakou, Ferdinando Squitieri, Gabriel Balmus, David C Rubinsztein, Nuclear proteasomes buffer cytoplasmic proteins during autophagy compromise.
Nature Cell Biology : 2024
PubMed ID: 39209961 View Samples

Stefanov BA, Ajuh E, Allen S, Nowacki M, Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells.
iScience 27:109413 2024
PubMed ID: 38510117 View Samples

Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Stem cell research 77:103407 2024
PubMed ID: 38552357 View Samples

Kobeissi H, Gao X, DePalma SJ, Ewoldt JK, Wang MC, Das SL, Jilberto J, Nordsletten D, Baker BM, Chen CS, Lejeune E, MicroBundlePillarTrack: A Python package for automated segmentation, tracking, and analysis of pillar deflection in cardiac microbundles.
microPublication biology 2024: 2024
PubMed ID: 39114859 View Samples

Prondzynski M, Berkson P, Trembley MA, Tharani Y, Shani K, Bortolin RH, Sweat ME, Mayourian J, Yucel D, Cordoves AM, Gabbin B, Hou C, Anyanwu NJ, Nawar F, Cotton J, Milosh J, Walker D, Zhang Y, Lu F, Liu X, Parker KK, Bezzerides VJ, Pu WT, Efficient and reproducible generation of human iPSC-derived cardiomyocytes and cardiac organoids in stirred suspension systems.
Nature communications 15:5929 2024
PubMed ID: 39009604 View Samples

Xiao F, Zhang X, Morton SU, Kim SW, Fan Y, Gorham JM, Zhang H, Berkson PJ, Mazumdar N, Cao Y, Chen J, Hagen J, Liu X, Zhou P, Richter F, Shen Y, Ward T, Gelb BD, Seidman JG, Seidman CE, Pu WT, Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Nature genetics 56:420-430 2024
PubMed ID: 38378865 View Samples

Losada JC, Triana H, Vanegas E, Caro A, Rodríguez-López A, Espejo-Mojica AJ, Alméciga-Diaz CJ, Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB.
Chembiochem : a European journal of chemical biology 25:e202400081 2024
PubMed ID: 38830828 View Samples

Rha AK, Christensen CL, Kan SH, Harb JF, Andrade-Heckman P, Wang RY, Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing.
Stem cell research 81:103552 2024
PubMed ID: 39303321 View Samples

Moss KR, Mi R, Kawaguchi R, Ehmsen JT, Shi Q, Vargas PI, Mukherjee-Clavin B, Lee G, Höke A, hESC- and hiPSC-derived Schwann cells are molecularly comparable and functionally equivalent.
iScience 27:109855 2024
PubMed ID: 38770143 View Samples

Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A, iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Nature communications 15:827 2024
PubMed ID: 38280846 View Samples

Schmitt-Ulms C, Kayabolen A, Manero-Carranza M, Zhou N, Donnelly K, Nuccio SP, Kato K, Nishimasu H, Gootenberg JS, Abudayyeh OO, Programmable RNA writing with trans-splicing.
bioRxiv : the preprint server for biology : 2024
PubMed ID: 38352602 View Samples

Riccardi F, Romano G, Licastro D, Pagani F, Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
PloS one 19:e0298965 2024
PubMed ID: 38829854 View Samples

Kita N, Hamamoto A, B Gowda SG, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis.
Journal of lipid research :100508 2024
PubMed ID: 38280458 View Samples

Kvapilova K, Misenko P, Radvanszky J, Brzon O, Budis J, Gazdarica J, Pos O, Korabecna M, Kasny M, Szemes T, Kvapil P, Paces J, Kozmik Z, Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
BMC genomics 25:187 2024
PubMed ID: 38365587 View Samples

Ullman JC, Dick RA, Linzner D, Minga T, Tep S, Satterfield TF, Xi Y, Beattie DT, Marmon T, Neutel JM, Chung B, Leeds JM, Noonberg SB, Green EM, Bernstein HS, First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease.
Clinical pharmacology and therapeutics 116:1580-1592 2024
PubMed ID: 39439155 View Samples

Tan Y, Gao M, Huang Y, Zhan D, Wu S, An J, Zhang X, Hu J, STK19 is a transcription-coupled repair factor that participates in UVSSA ubiquitination and TFIIH loading.
Nucleic acids research 52:12767-12783 2024
PubMed ID: 39353615 View Samples

Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH, .
iScience 27:109984 2024
PubMed ID: 38868186 View Samples

Voogd EJHF, Thijs M, Levers MR, Hofmeijer J, Frega M, Hypothermia improves neuronal network recovery in a human-derived in vitro model of oxygen-deprivation.
PloS one 19:e0314913 2024
PubMed ID: 39705243 View Samples

Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB, Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Genome medicine 16:146 2024
PubMed ID: 39696717 View Samples

Li HY, Lin HY, Chang SK, Chiu YT, Hou CC, Ko TP, Huang KF, Niu DM, Cheng WC, Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human a-Galactosidase.
JACS Au 4:908-918 2024
PubMed ID: 38559739 View Samples

Rahimov F, Nieminen P, Kumari P, Juuri E, Nikopensius T, Paraiso K, German J, Karvanen A, Kals M, Elnahas AG, Karjalainen J, Kurki M, Palotie A, FinnGen A, Estonian Biobank Research Team A, Heliövaara A, Esko T, Jukarainen S, Palta P, Ganna A, Patni AP, Mar D, Bomsztyk K, Mathieu J, Ruohola-Baker H, Visel A, Fakhouri WD, Schutte BC, Cornell RA, Rice DP, High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Nature communications 15:9568 2024
PubMed ID: 39500877 View Samples

Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K, CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.
Scientific reports 14:31904 2024
PubMed ID: 39738383 View Samples

Mouli K, Liopo AV, Suva LJ, Olson KR, McHugh EA, Tour JM, Derry PJ, Kent TA, SOD1 Is an Integral Yet Insufficient Oxidizer of Hydrogen Sulfide in Trisomy 21 B Lymphocytes and Can Be Augmented by a Pleiotropic Carbon Nanozyme.
Antioxidants (Basel, Switzerland) 13: 2024
PubMed ID: 39594503 View Samples

Son SM, Park SJ, Breusegem SY, Larrieu D, Rubinsztein DC, p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome.
Nature cell biology : 2024
PubMed ID: 38267537 View Samples

Parodi G, Zanini G, Collo L, Impollonia R, Cervetto C, Frega M, Chiappalone M, Martinoia S, In vitro electrophysiological drug testing on neuronal networks derived from human induced pluripotent stem cells.
Stem cell research & therapy 15:433 2024
PubMed ID: 39551784 View Samples

Selgrade DF, Fullenkamp DE, Chychula IA, Li B, Dellefave-Castillo L, Dubash AD, Ohiri J, Monroe TO, Blancard M, Tomar G, Holgren C, Burridge PW, George AL, Demonbreun AR, Puckelwartz M, George SA, Efimov IR, Green KJ, McNally EM, Susceptibility to innate immune activation in genetically-mediated myocarditis.
The Journal of clinical investigation : 2024
PubMed ID: 38768074 View Samples

Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
F&S reports 5:63-71 2024
PubMed ID: 38524212 View Samples

Singh MK, Rallabandi HR, Zhou XJ, Qi YY, Zhao ZZ, Gan T, Zhang H, Looger LL, Nath SK, .
Annals of the rheumatic diseases 83:879-888 2024
PubMed ID: 38373841 View Samples

Le T, Ferling I, Qiu L, Nabaile C, Assunção L, Roskelley CD, Grinstein S, Freeman SA, Redistribution of the glycocalyx exposes phagocytic determinants on apoptotic cells.
Developmental cell 59:853-868.e7 2024
PubMed ID: 38359833 View Samples

Lai Y, Diaz N, Armbrister R, Agoulnik I, Liu Y, DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia.
Biomolecules 14: 2024
PubMed ID: 39062522 View Samples

Munezane H, Imamura K, Fujimoto N, Hotta A, Yukitake H, Inoue H, Elimination of the extra chromosome of Dup15q syndrome iPSCs for cellular and molecular investigation.
European journal of cell biology 103:151446 2024
PubMed ID: 39059105 View Samples

Yeoh YQ, Amin A, Cuic B, Tomas D, Turner BJ, Shabanpoor F, Efficient systemic CNS delivery of a therapeutic antisense oligonucleotide with a blood-brain barrier-penetrating ApoE-derived peptide.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 175:116737 2024
PubMed ID: 38749176 View Samples

Wheeler S, Bhardwaj M, Kenyon V, Ferraz MJ, Aerts JMFG, Sillence DJ, Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1.
FEBS letters : 2024
PubMed ID: 38302739 View Samples

Wang WY, Lin L, Boone EC, Stevens J, Gaedigk A, .
Frontiers in pharmacology 15:1429286 2024
PubMed ID: 39206265 View Samples

Souza LRQ, Pedrosa CGDS, Puig-Pijuan T, da Silva Dos Santos C, Vitória G, Delou JMA, Setti-Perdigão P, Higa LM, Tanuri A, Rehen SK, Guimarães MZP, Saxitoxin potentiates human neuronal cell death induced by Zika virus while sparing neural progenitors and astrocytes.
Scientific reports 14:22809 2024
PubMed ID: 39354036 View Samples

Liu M, Zhang C, Gong X, Zhang T, Lian MM, Chew EGY, Cardilla A, Suzuki K, Wang H, Yuan Y, Li Y, Naik MY, Wang Y, Zhou B, Soon WZ, Aizawa E, Li P, Low JH, Tandiono M, Montagud E, Moya-Rull D, Rodriguez Esteban C, Luque Y, Fang M, Khor CC, Montserrat N, Campistol JM, Izpisua Belmonte JC, Foo JN, Xia Y, Kidney organoid models reveal cilium-autophagy metabolic axis as a therapeutic target for PKD both in vitro and in vivo.
Cell stem cell 31:52-70.e8 2024
PubMed ID: 38181751 View Samples

Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ, Thalamocortical organoids enable in vitro modeling of 22q112 microdeletion associated with neuropsychiatric disorders.
Cell stem cell 31:421-432.e8 2024
PubMed ID: 38382530 View Samples

Zollinger DR, Rivers E, Fine A, Huang Y, Son J, Kalyan A, Gray W, Baharian G, Hammond C, Ram R, Ringman L, Hafez D, Savel D, Patel V, Dantone M, Guo C, Childress M, Xu C, Johng D, Wallden B, Pokharel P, Camara W, Hegde PS, Hughes J, Carter C, Davarpanah N, Degaonkar V, Gupta P, Mariathasan S, Powles T, Ferree S, Dennis L, Young A, Analytical validation of a novel comprehensive genomic profiling informed circulating tumor DNA monitoring assay for solid tumors.
PloS one 19:e0302129 2024
PubMed ID: 38753705 View Samples

Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.
Stem cell research 77:103405 2024
PubMed ID: 38555716 View Samples

Ullman JC, Mellem KT, Xi Y, Ramanan V, Merritt H, Choy R, Gujral T, Young LEA, Blake K, Tep S, Homburger JR, O'Regan A, Ganesh S, Wong P, Satterfield TF, Lin B, Situ E, Yu C, Espanol B, Sarwaikar R, Fastman N, Tzitzilonis C, Lee P, Reiton D, Morton V, Santiago P, Won W, Powers H, Cummings BB, Hoek M, Graham RR, Chandriani SJ, Bainer R, DePaoli-Roach AA, Roach PJ, Hurley TD, Sun RC, Gentry MS, Sinz C, Dick RA, Noonberg SB, Beattie DT, Morgans DJ, Green EM, Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.
Science translational medicine 16:eadf1691 2024
PubMed ID: 38232139 View Samples

Sharma P, McFadden JR, Frost FG, Markello TC, Grange DK, Introne WJ, Gahl WA, Malicdan MCV, Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Human genetics 143:1445-1457 2024
PubMed ID: 39453476 View Samples

Zhao H, Lu Y, Zhang J, Sun Z, Cheng C, Liu Y, Wu L, Zhang M, He W, Hao S, Li K, NCOA4 requires a [3Fe-4S] to sense and maintain the iron homeostasis.
The Journal of biological chemistry :105612 2024
PubMed ID: 38159858 View Samples

Uchiyama S, Fukushima K, Katagiri S, Tsuchiya J, Kubo T, Chi S, Minami Y, Advancements in minimal residual disease detection: a practical approach using single-cell droplet PCR for comprehensive monitoring in hematological malignancy.
Therapeutic advances in hematology 15:20406207241245510 2024
PubMed ID: 38628436 View Samples

Li W, Huang X, Patel R, Schleifman E, Fu S, Shames DS, Zhang J, Analytical evaluation of circulating tumor DNA sequencing assays.
Scientific reports 14:4973 2024
PubMed ID: 38424110 View Samples

Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S, Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons.
Frontiers in pharmacology 15:1323491 2024
PubMed ID: 38420191 View Samples

Wu H, Wang LC, Sow BM, Leow D, Zhu J, Gallo KM, Wilsbach K, Gupta R, Ostrow LW, Yeo CJJ, Sobota RM, Li R, TDP43 aggregation at ER-exit sites impairs ER-to-Golgi transport.
Nature communications 15:9026 2024
PubMed ID: 39424779 View Samples

Zubiaur P, Rodríguez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, Sangkuhl K, Duconge J, Botton MR, Savieo J, Nofziger C, Whirl-Carrillo M, Klein TE, Gaedigk A, PharmVar GeneFocus: CYP4F2.
Clinical pharmacology and therapeutics 116:963-975 2024
PubMed ID: 39135485 View Samples

Zenk F, Fleck JS, Jansen SMJ, Kashanian B, Eisinger B, Santel M, Dupré JS, Camp JG, Treutlein B, Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems.
Nature neuroscience : 2024
PubMed ID: 38914828 View Samples

Windener F, Grewing L, Thomas C, Dorion MF, Otteken M, Kular L, Jagodic M, Antel J, Albrecht S, Kuhlmann T, Physiological aging and inflammation-induced cellular senescence may contribute to oligodendroglial dysfunction in MS.
Acta neuropathologica 147:82 2024
PubMed ID: 38722375 View Samples

Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM, Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
NPJ genomic medicine 9:57 2024
PubMed ID: 39516456 View Samples

Podlesny-Drabiniok A, Novikova G, Liu Y, Dunst J, Temizer R, Giannarelli C, Marro S, Kreslavsky T, Marcora E, Goate AM, BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues.
Nature communications 15:2058 2024
PubMed ID: 38448474 View Samples

Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T, Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Cell reports 43:113883 2024
PubMed ID: 38430517 View Samples

Xing X, Ji X, Liu X, Jin X, He Z, Xu A, Jiang W, Ji W, Liu Y, Zhang J, Huang X, Development and validation of a one-step.
The Analyst 150:142-153 2024
PubMed ID: 39584662 View Samples

Sirbu A, Bathe-Peters M, Kumar JLM, Inoue A, Lohse MJ, Annibale P, Cell swelling enhances ligand-driven ß-adrenergic signaling.
Nature communications 15:7822 2024
PubMed ID: 39242606 View Samples

Tian D, Cui M, Han M, Bacterial muropeptides promote OXPHOS and suppress mitochondrial stress in mammals.
Cell reports 43:114067 2024
PubMed ID: 38583150 View Samples

Simmons DW, Malayath G, Schuftan DR, Guo J, Oguntuyo K, Ramahdita G, Sun Y, Jordan SD, Munsell MK, Kandalaft B, Pear M, Rentschler SL, Huebsch N, Engineered tissue geometry and Plakophilin-2 regulate electrophysiology of human iPSC-derived cardiomyocytes.
APL bioengineering 8:016118 2024
PubMed ID: 38476404 View Samples

Wisniewska K, Gaffke L, Zabinska M, Wegrzyn G, Pierzynowska K, Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.
Current issues in molecular biology 46:2678-2700 2024
PubMed ID: 38534785 View Samples

Sledzinski P, Nowaczyk M, Smielowska MI, Olejniczak M, CRISPR/Cas9-induced double-strand breaks in the huntingtin locus lead to CAG repeat contraction through DNA end resection and homology-mediated repair.
BMC biology 22:282 2024
PubMed ID: 39627841 View Samples

Rha AK, Kan SH, Andrade-Heckman P, Christensen CL, Harb JF, Wang RY, Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells.
Molecular genetics and metabolism 143:108568 2024
PubMed ID: 39303319 View Samples

N Costa M, Goto-Silva L, M Nascimento J, Domith I, Karmirian K, Feilding A, Trindade P, Martins-de-Souza D, K Rehen S, LSD Modulates Proteins Involved in Cell Proteostasis, Energy Metabolism and Neuroplasticity in Human Cerebral Organoids.
ACS omega 9:36553-36568 2024
PubMed ID: 39220485 View Samples

Zhong M, Balakrishnan B, Guo AJ, Lai K, AAV9-based.
Molecular genetics and metabolism reports 38:101035 2024
PubMed ID: 38130891 View Samples

Striedner Y, Arbeithuber B, Moura S, Nowak E, Reinhardt R, Muresan L, Salazar R, Ebner T, Tiemann-Boege I, Exploring the Micro-Mosaic Landscape of.
Genes 15: 2024
PubMed ID: 38397181 View Samples

Yang P, Zhu L, Wang S, Gong J, Selvaraj JN, Ye L, Chen H, Zhang Y, Wang G, Song W, Li Z, Cai L, Zhang H, Zhang D, Engineered model of heart tissue repair for exploring fibrotic processes and therapeutic interventions.
Nature communications 15:7996 2024
PubMed ID: 39266508 View Samples

Subramanian K, Chopra M, Kahali B, Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance.
HGG advances 5:100285 2024
PubMed ID: 38521976 View Samples

Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging.
Nucleic acids research : 2024
PubMed ID: 38894680 View Samples

Uppuluri L, Shi CH, Varapula D, Young E, Ehrlich RL, Wang Y, Piazza D, Mell JC, Yip KY, Xiao M, A long-read sequencing strategy with overlapping linkers on adjacent fragments (OLAF-Seq) for targeted resequencing and enrichment.
Scientific reports 14:5583 2024
PubMed ID: 38448490 View Samples

van Sluis M, Yu Q, van der Woude M, Gonzalo-Hansen C, Dealy SC, Janssens RC, Somsen HB, Ramadhin AR, Dekkers DHW, Wienecke HL, Demmers JJPG, Raams A, Davó-Martínez C, Llerena Schiffmacher DA, van Toorn M, Häckes D, Thijssen KL, Zhou D, Lammers JG, Pines A, Vermeulen W, Pothof J, Demmers JAA, van den Berg DLC, Lans H, Marteijn JA, Transcription-coupled DNA-protein crosslink repair by CSB and CRL4.
Nature cell biology : 2024
PubMed ID: 38600236 View Samples

Pachernegg S, Robevska G, G A Ferreira L, van den Bergen JA, Vlahos K, Howden SE, Sinclair AH, Ayers KL, Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines.
Stem cell research 79:103484 2024
PubMed ID: 38924973 View Samples

Xu B, Gao X, Li X, Li F, Zhang Z, Crosslinking intensity modulates the reliability and sensitivity of chromatin conformation detection at different structural levels.
Communications biology 7:1216 2024
PubMed ID: 39349577 View Samples

Wang WY, Lin L, Boone EC, Stevens J, Gaedigk A, .
Frontiers in pharmacology 15:1429286 2024
PubMed ID: 39206265 View Samples

Ueda MT, Inamo J, Miya F, Shimada M, Yamaguchi K, Kochi Y, Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response.
Cell genomics :100654 2024
PubMed ID: 39288763 View Samples

Suvarna K, Jayabal P, Ma X, Wang H, Chen Y, Weintraub ST, Han X, Houghton PJ, Shiio Y, Ceramide-induced cleavage of GPR64 intracellular domain drives Ewing sarcoma.
Cell reports 43:114497 2024
PubMed ID: 39024100 View Samples

Rodriguez-Lopez A, Huang X, Chen C, Zou J, Zheng W, Chen G, Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p R626X (c 1876C > T) mutation in the NAGLU gene.
Stem cell research 81:103612 2024
PubMed ID: 39579553 View Samples

Watanabe D, Okamoto N, Kobayashi Y, Suzuki H, Kato M, Saitoh S, Kanemura Y, Takenouchi T, Yamada M, Nakato D, Sato M, Tsunoda T, Kosaki K, Miya F, Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.
Scientific reports 14:19741 2024
PubMed ID: 39187681 View Samples

Wisniewska K, Zabinska M, Gaffke L, Szulc A, Walter BM, Wegrzyn G, Pierzynowska K, Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels.
Frontiers in bioscience (Landmark edition) 29:415 2024
PubMed ID: 39735993 View Samples

Park S, Oh AY, Hong BS, Shin YJ, Jang H, Seo H, Kang SM, Woo TG, Park HP, Jeong J, Kim HJ, Kim BH, Kwon Y, Park BJ, The therapeutic effect of DX2 inhibition in nicotine-induced lung cancer progression.
Molecular therapy Oncology 32:200875 2024
PubMed ID: 39351074 View Samples

Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayir H, Vockley J, Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
JCI insight 9: 2024
PubMed ID: 39088276 View Samples

Zhang J, Frabutt DA, Chrzanowski M, Li N, Miller LM, Tian J, Mulcrone PL, Lam AK, Draper BE, Jarrold MF, Herzog RW, Xiao W, A novel class of self-complementary AAV vectors with multiple advantages based on cceAAV lacking mutant ITR.
Molecular therapy Methods & clinical development 32:101206 2024
PubMed ID: 38390555 View Samples

Zhou T, Zhang R, Jia D, Doty RT, Munday AD, Gao D, Xin L, Abkowitz JL, Duan Z, Ma J, GAGE-seq concurrently profiles multiscale 3D genome organization and gene expression in single cells.
Nature genetics 56:1701-1711 2024
PubMed ID: 38744973 View Samples

You H, Havey L, Li Z, Asara J, Guo R, Epstein-Barr-Virus-Driven Cardiolipin Synthesis Sustains Metabolic Remodeling During B-cell Lymphomagenesis.
Research square : 2024
PubMed ID: 38659762 View Samples

Zhu Y, Zhang X, Gao M, Huang Y, Tan Y, Parnas A, Wu S, Zhan D, Adar S, Hu J, Coordination of transcription-coupled repair and repair-independent release of lesion-stalled RNA polymerase II.
Nature communications 15:7089 2024
PubMed ID: 39154022 View Samples

Zita Gál, Stavroula Boukoura, Kezia Catharina Oxe, Sara Badawi, Blanca Nieto, Lea Milling Korsholm, Sille Blangstrup Geisler, Ekaterina Dulina, Anna Vestergaard Rasmussen, Christina Dahl, Wei Lv, Huixin Xu, Xiaoguang Pan, Stefanos Arampatzis, Danai-Eleni Stratou, Panagiotis Galanos, Lin Lin, Per Guldberg, Jiri Bartek, Yonglun Luo & Dorthe H. Larsen, Hyper-recombination in ribosomal DNA is driven by long-range resection-independent RAD51 accumulation.
Nature Communications : 2024
PubMed ID: 39242676 View Samples

Portales-Castillo I, Singal R, Ambrose A, Song JH, Son M, Goo YA, Zhou W, Traum AZ, Coler-Reilly A, Humphreys BD, Civitelli R, Jüppner H, Lundquist AL, Seres P, Allegretti AS, Mercimek-Andrews S, Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L.
JIMD reports 65:341-353 2024
PubMed ID: 39544690 View Samples

Umek T, Lundin KE, Mowoe MO, Hao Y, Roudi S, Žura L, Jørgensen PT, Lou C, Hagey DW, Wengel J, Smith CIE, Zain R, Anti-gene oligonucleotide clamps invade dsDNA and downregulate.
Molecular therapy Nucleic acids 35:102348 2024
PubMed ID: 39763502 View Samples

Qi L, Groeger M, Sharma A, Goswami I, Chen E, Zhong F, Ram A, Healy K, Hsiao EC, Willenbring H, Stahl A, Adipocyte inflammation is the primary driver of hepatic insulin resistance in a human iPSC-based microphysiological system.
Nature communications 15:7991 2024
PubMed ID: 39266553 View Samples

Wu J, Ren J, Cui H, Xie Y, Tang Y, Rapid and high-purity differentiation of human medium spiny neurons reveals LMNB1 hypofunction and subtype necessity in modeling Huntington's disease.
Inflammation and regeneration 44:7 2024
PubMed ID: 38360694 View Samples

Vargas-López V, Prada LF, Alméciga-Díaz CJ, Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Scientific reports 14:3961 2024
PubMed ID: 38368436 View Samples

Zareba J, Cattaneo EF, Villani A, Othman A, Streb S, Peri F, NPC1 links cholesterol trafficking to microglial morphology via the gastrosome.
Nature communications 15:8638 2024
PubMed ID: 39366931 View Samples

Venkatesh A, McKenty T, Ali S, Sonntag D, Ravipaty S, Cui Y, Slate D, Lin Q, Christiansen A, Jacobson S, Kach J, Lim KH, Srinivasan V, Zinshteyn B, Aznarez I, Huryn LA, Li Z, Hufnagel RB, Liau G, Anderson K, Hoger J, Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells.
Nucleic acid therapeutics : 2024
PubMed ID: 39264859 View Samples

Wilson TE, Ahmed S, Winningham A, Glover TW, Replication stress induces POLQ-mediated structural variant formation throughout common fragile sites after entry into mitosis.
Nature communications 15:9582 2024
PubMed ID: 39505880 View Samples

Woo Lim S, In Lee K, Cui S, Fang X, Jin Shin Y, Lee H, Woo Yang C, Young Lee J, Ha Chung B, Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system.
Stem cell research 81:103522 2024
PubMed ID: 39163808 View Samples

Zhang E, Neugebauer ME, Krasnow NA, Liu DR, Phage-assisted evolution of highly active cytosine base editors with enhanced selectivity and minimal sequence context preference.
Nature communications 15:1697 2024
PubMed ID: 38402281 View Samples

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