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FOXF2 is required for cochlear development in humans and mice.
Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH, Walter MA, Carlsson P, Walz K, Tekin M. Bademci G, et al. Among authors: abad c. Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. Hum Mol Genet. 2019. PMID: 30561639 Free PMC article.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. Diaz-Horta O, et al. Among authors: abad c. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958875 Free PMC article.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Walz K, et al. Among authors: abad c. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21. Hum Genet. 2015. PMID: 25413698 Clinical Trial.
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Gallagher D, et al. Among authors: abad c. Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31. Dev Cell. 2015. PMID: 25556659 Free article.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M. Diaz-Horta O, et al. Among authors: abad c. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113. Epub 2016 May 9. Proc Natl Acad Sci U S A. 2016. PMID: 27162350 Free PMC article.
446 results