Recessive mutations of TMC1 associated with moderate to severe hearing loss

The molecules that mediate sensory transduction in the mammalian inner ear

(2015) Bifeng Pan et al.   CURRENT OPINION IN NEUROBIOLOGY

A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice

(2015) Kenneth R. Johnson et al.   MAMMALIAN GENOME

TMC1 and TMC2 Localize at the Site of Mechanotransduction in Mammalian Inner Ear Hair Cell Stereocilia

(2015) Kiyoto Kurima et al.   Cell Reports

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

(2014) Michael S. Hildebrand et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

(2014) Celia Zazo Seco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

(2014) W. M. Zein et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation

(2014) Yoshiyuki Kawashima et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

(2014) Aparna Ganapathy et al.   PLoS One

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

(2014) Yali Zhao et al.   PLoS One

Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2

(2014) R. Maeda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear

(2013) Bifeng Pan et al.   NEURON

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

(2013) Tao Yang et al.   Orphanet Journal of Rare Diseases

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

(2013) Xue Gao et al.   PLoS One

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

(2012) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

(2012) Kemal O. Yariz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

(2012) Saima Riazuddin et al.   NATURE GENETICS

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

(2011) Yoshiyuki Kawashima et al.   JOURNAL OF CLINICAL INVESTIGATION

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

(2010) Anne-Martine R. de Heer et al.   AUDIOLOGY AND NEURO-OTOLOGY

Topology of Transmembrane Channel-like Gene 1 Protein

(2010) Valentina Labay et al.   BIOCHEMISTRY

A novel mutation adjacent to theBthmouse mutation in theTMC1gene makes this mouse an excellent model of human deafness at the DFNA36 locus

(2010) T Yang et al.   CLINICAL GENETICS

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

(2010) Mariem Ben Saïd et al.   Genetic Testing and Molecular Biomarkers

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

(2009) N Hilgert et al.   CLINICAL GENETICS

TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families

(2008) Abdelaziz Tlili et al.   AUDIOLOGY AND NEURO-OTOLOGY