Results 11 to 20 of about 334 (109)

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families

Neural Plasticity, 2020
Genetic hearing loss is a common sensory disorder, and its cause is highly heterogeneous. In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p ...
Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang
doaj   +2 more sources

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. [PDF]

PLoS ONE, 2015
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations.
Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng   +8 more
doaj   +2 more sources

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness [PDF]

BMC Medical Genetics, 2018
Background MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi   +8 more
doaj   +2 more sources

A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

BMC Medical Genetics, 2018
Background Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family. Case presentation The proband with
Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang   +7 more
doaj   +2 more sources

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family

Neural Plasticity, 2020
Hearing loss is a highly heterogeneous disorder, with more than 60% of congenital cases caused by genetic factors. This study is aimed at identifying the genetic cause of congenital hearing loss in a Chinese Han family.
Longhao Wang, Lin Zhao, Hu Peng, Jun Xu, Yun Lin, Tao Yang, Hao Wu   +6 more
doaj   +2 more sources

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees [PDF]

BMC Medical Genetics, 2020
Background Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional ...
Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade   +5 more
doaj   +2 more sources

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Neural Plasticity, 2018
Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or ...
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang   +5 more
doaj   +2 more sources

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. [PDF]

PLoS ONE, 2014
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness ...
Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar   +15 more
doaj   +4 more sources

SNP Genetic Diversity Within a Fragment of the Gene Myo15a Responsible for the Hearing Process in a Population of Farmed and Free-Living Animals of the Canidae Family/SNP Genetski Deverzitet U Okviru Fragmenta Gena Myo15a, Odgovornog Za Sluh U Populaciji Životinja Familije Canidae U Uslovima Farmskog I Slobodnog Uzgoja [PDF]

Acta Veterinaria, 2014
Gen MYO15A je uključen u stvaranje proteina iz grupe motornih proteina - miozina. Miozin XVA je lociran u unutrašnjem uhu, hipofi zi i drugim tkivima, i značajno utiče na slušni proces.
Andrzej Jakubczak, Magdalena Gryzinska, Beata Horecka, Katarzyna Dziadosz, Grazyna Jezewska-Witkowska   +4 more
doaj   +2 more sources

Myosin-based nucleation of actin filaments contributes to stereocilia development critical for hearing [PDF]

Nature Communications
Assembly of actin-based stereocilia is critical for cochlear hair cells to detect sound. To tune their mechanosensivity, stereocilia form bundles composed of graded rows of ascending height, necessitating the precise control of actin polymerization ...
Zane G. Moreland, Fangfang Jiang, Carlos Aguilar, Melanie Barzik, Rui Gong, Ghazaleh Behnammanesh, Jinho Park, Arik Shams, Christian Faaborg-Andersen, Jesse C. Werth, Randall Harley, Daniel C. Sutton, James B. Heidings, Stacey M. Cole, Andrew Parker, Susan Morse, Elizabeth Wilson, Yasuharu Takagi, James R. Sellers, Steve D. M. Brown, Thomas B. Friedman, Gregory M. Alushin, Michael R. Bowl, Jonathan E. Bird   +23 more
doaj   +4 more sources