Non-syndromic hereditary sensorineural hearing loss: review of the genes involved

TMHS Is an Integral Component of the Mechanotransduction Machinery of Cochlear Hair Cells

(2012) Wei Xiong et al.   CELL

Restoration of Hearing in the VGLUT3 Knockout Mouse Using Virally Mediated Gene Therapy

(2012) Omar Akil et al.   NEURON

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

(2011) Antje K. Huebner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

(2011) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cochlear gene therapy

(2011) Lawrence R. Lustig et al.   CURRENT OPINION IN NEUROLOGY

Hereditary hearing loss: From human mutation to mechanism

(2011) Danielle R. Lenz et al.   HEARING RESEARCH

KCNQ4 K+ channels tune mechanoreceptors for normal touch sensation in mouse and man

(2011) Matthias Heidenreich et al.   NATURE NEUROSCIENCE

Cochlear Implantation in Children with Anomalous Cochleovestibular Anatomy

(2011) Michael N. Pakdaman et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with  -tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

(2011) J. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

(2010) Shin-ichiro Kitajiri et al.   CELL

The Novel PMCA2 Pump MutationTommyImpairs Cytosolic Calcium Clearance in Hair Cells and Links to Deafness in Mice

(2010) Mario Bortolozzi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane

(2010) Elisabeth Verpy et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

(2010) Rachel E Hardisty-Hughes et al.   Nature Protocols

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

(2009) Saima Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology

(2009) Amiel A. Dror et al.   Annual Review of Genetics

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models

(2009) Emilie Hoang Dinh et al.   BRAIN RESEARCH

Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell

(2009) P. Heidrych et al.   HUMAN MOLECULAR GENETICS

Speech Perception in Children With Auditory Neuropathy/Dyssynchrony Managed With Either Hearing Aids or Cochlear Implants

(2009) Gary Rance et al.   OTOLOGY & NEUROTOLOGY

Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

(2009) Nicolas Michalski et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

(2008) Jérôme Ruel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation in theEspingene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

(2008) Redouane Boulouiz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

(2008) Steve D. M. Brown et al.   NATURE REVIEWS GENETICS

Sensorineural Deafness and Seizures in Mice Lacking Vesicular Glutamate Transporter 3

(2008) Rebecca P. Seal et al.   NEURON