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327 results

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Page 1
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Müller U. Schwander M, et al. Among authors: najmabadi h. J Neurosci. 2007 Feb 28;27(9):2163-75. doi: 10.1523/JNEUROSCI.4975-06.2007. J Neurosci. 2007. PMID: 17329413 Free PMC article.
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. Grillet N, et al. Among authors: najmabadi h. Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017. Am J Hum Genet. 2009. PMID: 19732867 Free PMC article.
A catechol-O-methyltransferase that is essential for auditory function in mice and humans.
Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B. Du X, et al. Among authors: najmabadi h. Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14609-14. doi: 10.1073/pnas.0807219105. Epub 2008 Sep 15. Proc Natl Acad Sci U S A. 2008. PMID: 18794526 Free PMC article.
Human male infertility caused by mutations in the CATSPER1 channel protein.
Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Avenarius MR, et al. Among authors: najmabadi h. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344877 Free PMC article.
miRNA mutations are not a common cause of deafness.
Hildebrand MS, Witmer PD, Xu S, Newton SS, Kahrizi K, Najmabadi H, Valle D, Smith RJ. Hildebrand MS, et al. Among authors: najmabadi h. Am J Med Genet A. 2010 Mar;152A(3):646-52. doi: 10.1002/ajmg.a.33299. Am J Med Genet A. 2010. PMID: 20186779 Free PMC article.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: najmabadi h. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
Genetic male infertility and mutation of CATSPER ion channels.
Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Hildebrand MS, et al. Among authors: najmabadi h. Eur J Hum Genet. 2010 Nov;18(11):1178-84. doi: 10.1038/ejhg.2010.108. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648059 Free PMC article. Review.
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.
Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Odeh H, et al. Among authors: najmabadi h. Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137774 Free PMC article.
327 results