Recent Publications Using NIGMS Human Genetic Cell Repository Biospecimens

Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing..
J Mol Diagn. 16 (2):273-9 2014
PubMed ID:24508304 View Samples
Abou Tayoun AN, de Abreu FB, Lefferts JA, Tsongalis GJ, A clinical PCR fragment analysis assay for TA repeat sizing in the UGT1A1 promoter region.
Clinica chimica acta; international journal of clinical chemistry 422:1-4 2013
PubMed ID:23545277 View Samples
Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG, Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene.
Molecular genetics and metabolism : 2013
PubMed ID:23707712 View Samples
Boohaker RJ, Cui X, Stackhouse M, Xu B, ATM-mediated Snail Serine 100 phosphorylation regulates cellular radiosensitivity..
Radiother Oncol. : 2013
PubMed ID:23891091 View Samples
Bruck T, Yanuka O, Benvenisty N, Human Pluripotent Stem Cells with Distinct X Inactivation Status Show Molecular and Cellular Differences Controlled by the X-Linked ELK-1 Gene.
Cell Rep. 4(2):262-70 2013
PubMed ID:23871667 View Samples
Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle..
Mol Cell. 52(1):87-100 2013
PubMed ID:24119401 View Samples
Cheng PH, Li CL, Chang YF, Tsai SJ, Lai YY, Chan AW, Chen CM, Yang SH., miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models..
Am J Hum Genet. Volume 93, Issue 2:306-312 2013
PubMed ID:23810380 View Samples
Cheng WC, Weng CY, Yun WY, Chang SY, Lin YC, Tsai FJ, Huang FY, Chen YR., Rapid modifications of N-substitution in iminosugars: development of new β-glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease..
Bioorg Med Chem. 21(17):5021-8 2013
PubMed ID:23880081 View Samples
Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders.
The Journal of molecular diagnostics : JMD : 2013
PubMed ID:23665194 View Samples
Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM, Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon.
Neurobiology of disease : 2013
PubMed ID:23659897 View Samples
Godschalk RW, Ersson C, Riso P, Porrini M, Langie SA, van Schooten FJ, Azqueta A, Collins AR, Jones GD, Kwok RW, Phillips DH, Sozeri O, Allione A, Matullo G, Möller L, Forchhammer L, Loft S, Møller P., DNA-repair measurements by use of the modified comet assay: An inter-laboratory comparison within the European Comet Assay Validation Group (ECVAG)..
Mutat Res. 757(1):60-7 2013
PubMed ID:23830929 View Samples
Gondcaille C, Genin EC, Lopez TE, Dias AM, Geillon F, Andreoletti P, Cherkaoui-Malki M, Nury T, Lizard G, Weinhofer I, Berger J, Kase ET, Trompier D, Savary S., LXR antagonists induce ABCD2 expression..
Biochim Biophys Acta. pii:S1388-1981 2013
PubMed ID:24239766 View Samples
Grasso M, Boon EM, Filipovic-Sadic S, van Bunderen PA, Gennaro E, Cao R, Latham GJ, Hadd AG, Coviello DA., A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis..
J Mol Diagn. 13:pii: S1525-1578 2013
PubMed ID:24177047 View Samples
Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4..
Am J Hum Genet. 93(5):906-14 2013
PubMed ID:24119684 View Samples
Kang S, Kim JB, Heo TH, Kim SJ, Cell cycle arrest in Batten disease lymphoblast cells.
Gene : 2013
PubMed ID:23458879 View Samples
Kawagoe S, Higuchi T, Otaka M, Shimada Y, Kobayashi H, Ida H, Ohashi T, Okano HJ, Nakanishi M, Eto Y., Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)..
Mol Genet Metab. 109 (4):386-9 2013
PubMed ID:23810832 View Samples
Kim S, Hwang SK, Lee M, Kwak H, Son K, Yang J, Kim SH, Lee CH, Fanconi anemia complementation group A (FANCA) localizes to centrosomes and functions in the maintenance of centrosome integrity.
The international journal of biochemistry & cell biology : 2013
PubMed ID:23806870 View Samples
Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA, Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome.
Biol Psychiatry : 2013
PubMed ID:23896203 View Samples
Li Z, Li T, Dai S, Xie X, Ma X, Zhao W, Zhang W, Li J, Wang PG, New insights into the pharmacological chaperone activity of c2-substituted glucoimidazoles for the treatment of Gaucher disease.
Chembiochem : a European journal of chemical biology 14:1239-47 2013
PubMed ID:23775891 View Samples
Marchina E, Misasi S, Bozzato A, Ferraboli S, Agosti C, Rozzini L, Borsani G, Barlati S, Padovani A., Gene expression profile in fibroblasts of Huntington's disease patients and controls..
J Neurol Sci. pii:S0022-510X(13)03043-8 2013
PubMed ID:24296361 View Samples
Mehta D, Iwamoto K, Ueda J, Bundo M, Adati N, Koji, Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology..
Neurosci Res. pii:S0168-0102(13)00243-5 2013
PubMed ID:24211644 View Samples
Michalska D, Jaguszewska K, Liss J, Kitowska K, Mirecka A, Ukaszuk K., Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes--a pilot study..
Hered Cancer Clin Pract. 11(1)::10 2013
PubMed ID:23941236 View Samples
Miller JD, Ganat YM, Kishinevsky S, Bowman RL, Liu B, Tu EY, Mandal PK, Vera E, Shim JW, Kriks S, Taldone T, Fusaki N, Tomishima MJ, Krainc D, Milner TA, Rossi DJ, Studer L., Human iPSC-Based Modeling of Late-Onset Disease via Progerin-Induced Aging..
Cell Stem Cell. 13(6):691-705 2013
PubMed ID:24315443 View Samples
Mukherjee JJ, Kumar S, DNA synthesis inhibition in response to benzo[a]pyrene dihydrodiol epoxide is associated with attenuation of p(34)cdc2: Role of p53.
Mutation research : 2013
PubMed ID:23692869 View Samples
Paterson DS, Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome..
Respir Physiol Neurobiol. 189(2):301-14 2013
PubMed ID:23851109 View Samples
Ramos L, Del Rey J, Daina G, Martinez-Passarell O, Rius M, Tuñón D, Campillo M, Benet J, Navarro J., Does the S phase have an impact on the accuracy of comparative genomic hybridization profiles in single fibroblasts and human blastomeres?.
Fertil Steril. pii:S0015-0282(13)03194-4 2013
PubMed ID:24314925 View Samples
Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE., Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization..
Forensic Sci Int Genet. 7 (5):475-81 2013
PubMed ID:23948316 View Samples
Rivera-Torres J, Acín-Perez R, Cabezas-Sánchez P, Osorio FG, Gonzalez-Gómez C, Megias D, Cámara C, López-Otín C, Enríquez JA, Luque-García JL, Andrés V., Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture..
J Proteomics. 91C:466-477 2013
PubMed ID:23969228 View Samples
Salewsky B, Wessendorf P, Hirsch D, Krenzlin H, Digweed M, Nijmegen Breakage Syndrome: The clearance pathway for mutant nibrin protein is allele specific.
Gene : 2013
PubMed ID:23458873 View Samples
Sebastian T1, Cooney CG2, Parker J2, Qu P2, Perov A2, Golova JB2, Pozza L3, Iwasiow RM3, Holmberg R2., Integrated amplification microarray system in a lateral flow cell for warfarin genotyping from saliva..
Clin Chim Acta. 429C:198-205 2013
PubMed ID:24360850 View Samples
Singh RD, Schroeder AS, Scheffer L, Holicky EL, Wheatley CL, Marks DL, Pagano RE, Prominin-2 expression increases protrusions, decreases caveolae and inhibits Cdc42 dependent fluid phase endocytosis.
Biochemical and biophysical research communications 434:466-72 2013
PubMed ID:23583380 View Samples
Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y., The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear..
Mol Genet Metab. ( 2013
PubMed ID:24001525 View Samples
Talaei F, van Praag VM, Henning RH, Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway.
Pharmacological research : the official journal of the Italian Pharmacological Society : 2013
PubMed ID:23702336 View Samples
Uddin M, Maksymowych WP, Inman R, Gladman D, Munn A, Yazdani R, Pellett F, Hamilton S, O'Rielly DD, Rahman P., UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family..
BMC Genet. 14(1):67 2013
PubMed ID:23927372 View Samples
Wan G, Mathur R, Hu X, Liu Y, Zhang X, Peng G, Lu X, Long non-coding RNA ANRIL (CDKN2B-AS) is induced by the ATM-E2F1 signaling pathway.
Cellular signalling 25:1086-95 2013
PubMed ID:23416462 View Samples
Wang L, Rao M, Fang Y, Hameed M, Viale A, Busam K, Jhanwar SC., A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation..
J Mol Diagn. 15(5):581-91 2013
PubMed ID:23800576 View Samples
Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease..
Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print] : 2013
PubMed ID:24044919 View Samples