Results 1 to 10 of about 334 (109)

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants

Scientific Reports
Myosin XVA (MYO15A) is a member of the myosin superfamily that, as a motor protein, plays an essential role in actin polymerization at the tip of the stereocilia in hair cells. Variants in MYO15A are known to be the third most common reason for autosomal
Mohammad Farhadi, Masoumeh Falah, Masoud Garshasbi   +2 more
exaly   +3 more sources

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss

Neural Plasticity, 2021
Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss.
Xiao-Hui Wang, Le Xie, Sen Chen, Kai Xu, Xue Bai, Yuan Jin, Yue Qiu, Xiao-Zhou Liu, Yu Sun, Wei-Jia Kong   +9 more
doaj   +2 more sources

Myosin XVA: dancing at the tips of the stereocilia

Journal of Bio-X Research, 2020
. Myosins comprise a large superfamily of adenosine triphosphatases (ATPases) that interact with actin filaments to generate motility or force. Unconventional myosins are implicated in diverse cellular processes including organelle trafficking, F-actin ...
Haibo Du, Nana Li, Zhigang Xu
doaj   +2 more sources

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

BMC Medical Genetics, 2019
Background MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2 ...
Jing Guan, Lidong Zhao
exaly   +3 more sources

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss

Frontiers in Genetics, 2021
Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying hearing loss in four Ashkenazi Jewish families.
Yoel Hirsch, Booth Kt, David Corey
exaly   +3 more sources

A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss

Molecular Genetics & Genomic Medicine
Background MYO15A is one of the common genes of severe‐to‐profound sensorineural deafness. Mutations in this gene can cause both pre‐ and post‐lingual hearing losses.
Yanli Wang, Zengping Liu, Yong Li, Zhipeng Nie, Baicheng Xu, Yiming Zhu, Shihong Duan, Xingjian Chen, Huan Tan, Jiong Dang, Minxin Guan, Yufen Guo   +11 more
exaly   +2 more sources

The worldwide frequency of MYO15A gene mutations in patients with autosomal recessive non-syndromic hearing loss: A meta‐analysis [PDF]

Iranian Journal of Basic Medical Sciences, 2020
MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL).
Mahsa Farjami, Reza Asadi, Fahimeh Afzal Javan, Malihe Alimardani, Saeed Eslami, Sima Mansoori Derakhshan, Atieh Eslahi, Majid Mojarad   +7 more
doaj   +1 more source

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

BMC Medical Genomics, 2022
Background Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally.
Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan, Pu Dai   +7 more
doaj   +1 more source

Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss

罕见病研究, 2022
Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of ...
QU Chunyan, ZHOU Yi, CHEN Min, HAO Jinsheng, NI Xin, LIU Haihong   +5 more
doaj   +1 more source

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

BMC Medical Genomics, 2022
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p ...
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai   +14 more
doaj   +1 more source