HD07
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - JAPANESE
Aliquot Size:
10 µg each
Sex:
Males: 4 Females: 6
Brief Description:
Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
| Kaplan MH, Kaminski M, Estes JM, Gitlin SD, Zahn J, Elder JT, Tejasvi T, Gensterblum E, Sawalha AH, McGowan JP, Dosik MH, Direskeneli H, Direskeneli GS, Adebamowo SN, Adebamowo CA, Sajadi M, Contreras-Galindo R, Structural variation of centromeric endogenous retroviruses in human populations and their impact on cutaneous T-cell lymphoma, Sézary syndrome, and HIV infection BMC medical genomics12:58 2018 |
| PubMed ID: 31046767 |
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| Visscher, H., Ross, C.J.D., Dube, M-P., Brown, A.M.K., Phillips, M.S., Carleton, B.C., and Hayden, M.R., Application of principal component analysis to pharmacogenomic studies in Canada The Pharmacogenomics Journal9:362-372 2009 |
| PubMed ID: 19652663 |
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| Kelley JL, Swanson WJ, Dietary change and adaptive evolution of enamelin in humans and among primates Genetics178:1595-603 2008 |
| PubMed ID: 18245370 |
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| Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007 |
| PubMed ID: 17852344 |
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| Melis, R., Lyon, E., and McMillin, G.A., Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays Expert Rev Mol Diagn6(6):811-20 2006 |
| PubMed ID: 17140368 |
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| Anderle P, Nielsen CU, Pinsonneault J, Krog PL, Brodin B, Sadée W, Genetic variants of the human dipeptide transporter PEPT1 The Journal of pharmacology and experimental therapeutics316:636-46 2005 |
| PubMed ID: 16258023 |
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| Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG, Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet77(5):807-23 2005 |
| PubMed ID: 16252240 |
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| Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY, Polymorphism discovery in 51 chemotherapy pathway genes Human molecular genetics14:3595-603 2005 |
| PubMed ID: 16239245 |
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| Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE, Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose The New England journal of medicine352:2285-93 2005 |
| PubMed ID: 15930419 |
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| Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ, Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med352(15):1557-64 2005 |
| PubMed ID: 15829536 |
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| Lakhman SS, Ghosh D, Blanco JG, Functional significance of a natural allelic variant of human carbonyl reductase 3 (CBR3) Drug metabolism and disposition: the biological fate of chemicals33:254-7 2004 |
| PubMed ID: 15537833 |
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| Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R, Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array Genome research14:414-25 2004 |
| PubMed ID: 14993208 |
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| Pinsonneault, J., Nielsen, C.U. and Sadee, W., Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions J Pharmacology and Experimental Therapeutics311:1088-1096 2004 |
| PubMed ID: 15282265 |
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| Fang Y, van Meurs JB, Bergink AP, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG, Cdx-2 polymorphism in the promoter region of the human vitamin D receptor gene determines susceptibility to fracture in the elderly Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research18:1632-41 2003 |
| PubMed ID: 12968672 |
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| Jurevic RJ, Chrisman P, Mancl L, Livingston R, Dale BA, Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations Genetic testing6:261-9 2003 |
| PubMed ID: 12537649 |
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| Noonan JP, Li J, Nguyen L, Caoile C, Dickson M, Grimwood J, Schmutz J, Feldman MW, Myers RM, Extensive linkage disequilibrium, a common 167-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster American journal of human genetics72:621-35 2003 |
| PubMed ID: 12577201 |
| |
| Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet68(1):26-37 2001 |
| PubMed ID: 11090341 |
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| Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J, Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet68(3):577-89 2001 |
| PubMed ID: 11179006 |
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| Lucas, J.L. and Sadee, W., Single Nucleotide Polymorphisms of the Human M1 Muscarinic Acetylcholine Receptor Gene AAPS PharmSci3(4):article 31 2001 |
| PubMed ID: 12049494 |
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| Tanus-Santos JE, Desai M, Flockhart DA, Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics11(8):719-25 2001 |
| PubMed ID: 11692081 |
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| Lishanski A, Screening for single-nucleotide polymorphisms using branch migration inhibition in PCR-amplified DNA. Clin Chem46(9):1464-70 2000 |
| PubMed ID: 10973891 |
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