Results 1 to 10 of about 139 (86)

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

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

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania [PDF]

PeerJ, 2023
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients.
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko   +9 more
doaj   +2 more sources

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Journal of Clinical Laboratory Analysis, Volume 36, Issue 10, October 2022., 2022
We identified three compound heterozygous mutations in MYO15A that cause deafness, including two novel mutations, c.6804G > A (p.M2268I) and c.6188_6190delinsGTCA (p.F2063Cfs*60). The current findings expand the MYO15A pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.
Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu   +4 more
wiley   +1 more source

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

Laryngoscope Investigative Otolaryngology, Volume 6, Issue 5, Page 958-967, October 2021., 2021
Abstract A number of genes are reportedly responsible for hereditary hearing loss, which accounts for over 50% of all congenital hearing loss cases. Recent advances in genetic testing have enabled the identification of pathogenic variants in many cases, and systems have been developed to provide personalized treatment based on etiology. Gene therapy is
Hidekane Yoshimura, Shin‐Ya Nishio, Shin‐Ichi Usami   +2 more
wiley   +1 more source

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

Laryngoscope Investigative Otolaryngology, Volume 6, Issue 5, Page 1196-1207, October 2021., 2021
Abstract Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and rationale for medical evaluation of pediatric bilateral SNHL, including history and physical examination ...
Suat Kılıç, Malek H. Bouzaher, Michael S. Cohen, Judith E. C. Lieu, Margaret Kenna, Samantha Anne   +5 more
wiley   +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

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

Neural Plasticity, Volume 2021, Issue 1, 2021., 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. Using next‐generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C
Xiao-Hui Wang, Le Xie, Sen Chen, Kai Xu, Xue Bai, Yuan Jin, Yue Qiu, Xiao-Zhou Liu, Yu Sun, Wei-Jia Kong, Geng lin Li   +10 more
wiley   +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

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 Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang   +7 more
doaj   +1 more source