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MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: ahituv n. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.
The Notch ligand Jagged1 is required for inner ear sensory development.
Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. Kiernan AE, et al. Among authors: ahituv n. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3873-8. doi: 10.1073/pnas.071496998. Epub 2001 Mar 20. Proc Natl Acad Sci U S A. 2001. PMID: 11259677 Free PMC article.
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Calton MA, et al. Among authors: ahituv n. Hum Mol Genet. 2009 Mar 15;18(6):1140-7. doi: 10.1093/hmg/ddn431. Epub 2008 Dec 17. Hum Mol Genet. 2009. PMID: 19091795 Free PMC article.
A PYY Q62P variant linked to human obesity.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. Ahituv N, et al. Hum Mol Genet. 2006 Feb 1;15(3):387-91. doi: 10.1093/hmg/ddi455. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368708 Free article.
176 results