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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY. Jang MW, et al. Among authors: chen zy, chen h. Proc Natl Acad Sci U S A. 2021 Jun 1;118(22):e2019681118. doi: 10.1073/pnas.2019681118. Proc Natl Acad Sci U S A. 2021. PMID: 34050020 Free PMC article.
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. Liu X, et al. Among authors: chen zy. Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015. Am J Hum Genet. 2010. PMID: 20021999 Free PMC article.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M. Sirmaci A, et al. Among authors: chen zy. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451170 Free PMC article.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Among authors: chen zy. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.
Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong AC, Loh TL, Du L, Grati M, Vlajkovic SM, Blanton S, Ryan AF, Chen ZY, Thorne PR, Kachar B, Tekin M, Zhao HB, Housley GD, King MC, Liu XZ. Yan D, et al. Among authors: chen zy. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2228-33. doi: 10.1073/pnas.1222285110. Epub 2013 Jan 23. Proc Natl Acad Sci U S A. 2013. PMID: 23345450 Free PMC article.
The application of genome editing in studying hearing loss.
Zou B, Mittal R, Grati M, Lu Z, Shu Y, Tao Y, Feng Y, Xie D, Kong W, Yang S, Chen ZY, Liu X. Zou B, et al. Among authors: chen zy. Hear Res. 2015 Sep;327:102-8. doi: 10.1016/j.heares.2015.04.016. Epub 2015 May 15. Hear Res. 2015. PMID: 25987504 Free PMC article. Review.
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.
Nourbakhsh A, Colbert BM, Nisenbaum E, El-Amraoui A, Dykxhoorn DM, Koehler KR, Chen ZY, Liu XZ. Nourbakhsh A, et al. Among authors: chen zy. J Assoc Res Otolaryngol. 2021 Apr;22(2):95-105. doi: 10.1007/s10162-020-00781-0. Epub 2021 Jan 28. J Assoc Res Otolaryngol. 2021. PMID: 33507440 Free PMC article. Review.
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
1,980 results