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Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C. Dixon PH, et al. Among authors: mccarthy mi. Hum Mol Genet. 2000 May 1;9(8):1209-17. doi: 10.1093/hmg/9.8.1209. Hum Mol Genet. 2000. PMID: 10767346
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q.
Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E, Prestwich P, Simecek N, Rao PV, Wishart M, Bottazzo GF, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI. Wiltshire S, et al. Among authors: mccarthy mi. Am J Hum Genet. 2001 Sep;69(3):553-69. doi: 10.1086/323249. Epub 2001 Aug 1. Am J Hum Genet. 2001. PMID: 11484155 Free PMC article.
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
Müllenbach R, Linton KJ, Wiltshire S, Weerasekera N, Chambers J, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C. Müllenbach R, et al. Among authors: mccarthy mi. J Med Genet. 2003 May;40(5):e70. doi: 10.1136/jmg.40.5.e70. J Med Genet. 2003. PMID: 12746424 Free PMC article. No abstract available.
Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'rahilly S, Hattersley AT, Johnston DG, McCarthy MI. Liew CF, et al. Among authors: mccarthy mi. Diabetologia. 2004 Dec;47(12):2168-75. doi: 10.1007/s00125-004-1575-4. Epub 2004 Dec 15. Diabetologia. 2004. PMID: 15662557
786 results