Results 21 to 30 of about 139 (86)

The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness [PDF]

Journal of Biological Chemistry, 2020
Abstract Cochlear hair cells possess an exquisite bundle of actin-based stereocilia that detect sound. Unconventional myosin 15 (MYO15A) traffics and delivers critical molecules required for stereocilia development and is essential for building the mechanosensory hair bundle.
Fangfang Jiang, Yasuharu Takagi, Arik Shams, Sarah M. Heissler, Thomas B. Friedman, James R. Sellers, Jonathan E. Bird   +6 more
openaire   +3 more sources

Mutational Spectrum ofMYO15Aand the Molecular Mechanisms of DFNB3 Human Deafness [PDF]

Human Mutation, 2016
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness.
Atteeq U, Rehman, Jonathan E, Bird, Rabia, Faridi, Mohsin, Shahzad, Sujay, Shah, Kwanghyuk, Lee, Shaheen N, Khan, Ayesha, Imtiaz, Zubair M, Ahmed, Saima, Riazuddin, Regie Lyn P, Santos-Cortez, Wasim, Ahmad, Suzanne M, Leal, Sheikh, Riazuddin, Thomas B, Friedman   +14 more
openaire   +2 more sources

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3 [PDF]

Science, 1998
DFNB3 , a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2 . A human unconventional myosin gene, MYO15 , was identified by combining functional and ...
Wang, A, Liang, Y, Fridell, R A, Probst, F J, Wilcox, E R, Touchman, J W, Morton, C C; id_orcid 0000-0003-2198-6756, Morell, R J, Noben-Trauth, K, Camper, S A, Friedman, T B   +10 more
openaire   +4 more sources

Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2 [PDF]

Genomics, 1999
Mutations in myosin XV are responsible for congenital profound deafness DFNB3 in humans and deafness and vestibular defects in shaker 2 mice. By combining direct cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome 11, we have determined the genomic ...
Liang, Yong, Wang, Aihui, Belyantseva, Inna A., Anderson, David W., Probst, Frank J., Barber, Thomas D., Miller, Webb, Touchman, Jeffrey W., Jin, Long, Sullivan, Susan L., Sellers, James R., Camper, Sally A., Lloyd, Ricardo V., Kachar, Bechara, Friedman, Thomas B., Fridell, Robert A.   +15 more
openaire   +2 more sources

Linkage study of DFNB3 responsible for hearing loss in human

Indian Journal of Human Genetics, 2013
Hearing disorders represent a significant health problem worldwide. Recessive inherited cases of the deafness are more prevalent in Pakistan due to consanguineous marriages. Deafness caused by DFNB3 is due to mutation in the gene MYO XVA and its prevalence among Pakistani population is about 5%.Families with at least two or more individual affected ...
Ali, Akhtar, Babar, Masroor E., Kalsoom, Saeeda, Ahmad, Jamil, Abbas, Kamran   +4 more
openaire   +3 more sources

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +1 more source

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   +1 more source

Cochlear Implantation From the Perspective of Genetic Background

The Anatomical Record, Volume 303, Issue 3, Page 563-593, March 2020., 2020
ABSTRACT While cochlear implantation (CI) technology has greatly improved over the past 40 years, one aspect of CI that continues to pose difficulties is the variability of outcomes due to numerous factors involved in postimplantation performance. The electric acoustic stimulation (EAS) system has expanded indications for CI to include patients with ...
Shin‐ichi Usami, Shin‐ya Nishio, Hideaki Moteki, Maiko Miyagawa, Hidekane Yoshimura   +4 more
wiley   +1 more source

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

Neural Plasticity, Volume 2020, Issue 1, 2020., 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. Auditory evaluation before and after cochlear implantation and targeted next‐generation sequencing of 140 deafness‐related genes were ...
Longhao Wang, Lin Zhao, Hu Peng, Jun Xu, Yun Lin, Tao Yang, Hao Wu, Renjie Chai   +7 more
wiley   +1 more source

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

Neural Plasticity, Volume 2020, Issue 1, 2020., 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.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. Intrafamilial cosegregation of the
Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang, Renjie Chai   +4 more
wiley   +1 more source