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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: park hr, park wy. 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.
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY. Chung J, et al. Among authors: park jh, park sm, park wj, park wy. J Mol Med (Berl). 2014 Jun;92(6):651-63. doi: 10.1007/s00109-014-1128-3. Epub 2014 Feb 15. J Mol Med (Berl). 2014. PMID: 24526180
676 results