Results 81 to 90 of about 334 (109)
Pathophysiology of human hearing loss associated with variants in myosins
Frontiers in PhysiologyDeleterious variants of more than one hundred genes are associated with hearing loss including MYO3A, MYO6, MYO7A and MYO15A and two conventional myosins MYH9 and MYH14. Variants of MYO7A also manifest as Usher syndrome associated with dysfunction of the
Takushi Miyoshi +4 more
doaj +1 more source
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period
Iranian Journal of Public Health, 2019 Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent.
Niloofar BAZAZZADEGAN +18 more
doaj +1 more source
Pedigree and sequence analysis of an ARNSHL family.
, 2015 (A) Pedigree of the ARNSHL family. N, normal; M, the MYO15A c.9316dupC variant. (B) The homozygous MYO15A c.9316dupC variant of the affected individual (IV:2). (C) The heterozygous MYO15A c.9316dupC variant of the unaffected individual (III:1).
Hong Xia (50641) +8 more
core +1 more source
, 2021 Purpose: Hearing loss (HL) is a genetically heterogeneous common neurosensory disorder. Among different ethnic groups, pathogenic variants of Myosin XVa (MYO15A) at the DFNB3 locus are the common causes of autosomal recessive nonsyndromic hearing loss ...
Ashrafi, Korosh +6 more
core +1 more source
Myosin-dependent short actin filaments contribute to peripheral widening in developing stereocilia
Nature CommunicationsStereocilia, the actin-based mechanosensory protrusions of inner ear sensory hair cells, require precise dimensional control for proper mechanotransduction, yet the mechanisms governing actin assembly during development remain unclear.
Xiayi Liao +9 more
doaj +1 more source
GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity.
, 2019 The transduction compartment of inner ear hair cells, the hair bundle, is composed of stereocilia rows of graded height, a property essential for sensory function that remains poorly understood at the molecular level. We previously showed that GPSM2-GNAI
Devanney, Nicholas +6 more
core +1 more source
BiomedicinesGenetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has ...
Nam K. Lee +3 more
doaj +1 more source
Introduction of Transmembrane Inner Ear (tmie) Gene Can Recover the Hearing Impairment and Abnormal Behavior in the Circling Mouse [PDF]
, 2008 The spontaneous mutant circling mouse (cir/cir) shows a circling behavior and hearing loss. We produced transgenic mice overexpressing the causative gene, transmembrane inner ear (tmie), for the phenotypic rescue of the circling mouse.
Mi Jung Shin +13 more
core
SUB-immunogold-SEM reveals nanoscale distribution of submembranous epitopes
Nature CommunicationsElectron microscopy paired with immunogold labeling is the most precise tool for protein localization. However, these methods are either cumbersome, resulting in small sample numbers and restricted quantification, or limited to identifying protein ...
Katharine K. Miller +2 more
doaj +1 more source
The schematic structure and the mutations of the human myosin XVa.
, 2015 The myosin XVa consists of 3530 amino acids, including an N-terminal extension domain and Motor domain, two light chain binding IQ motifs, two myosin-tail homology 4 (MyTH4) domains and band 4.1/ezrin/radixin/moesin (FERM) domains, a Src-homology-3 (SH3)
Hong Xia (50641) +8 more
core +1 more source