Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts

Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders

(2016) R. T. Alexander et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Unresolved questions regarding human hereditary deafness

(2016) AU Rehman et al.   ORAL DISEASES

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

(2014) Jiandong Zhao et al.   PLoS One

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

(2013) Priya Landa et al.   BMC Medical Genetics

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

(2013) Asli Subasioglu Uzak et al.   RENAL FAILURE

SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice

(2013) Xiangming Li et al.   PLoS Genetics

Novel Insights into V-ATPase Functioning: Distinct Roles for its Accessory Subunits ATP6AP1/Ac45 and ATP6AP2/(pro) Renin Receptor

(2012) Eric J.R. Jansen et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

(2012) B. Lorente-Canovas et al.   Disease Models & Mechanisms

Genetic causes and mechanisms of distal renal tubular acidosis

(2012) D. Batlle et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in Bilateral Deafness Patients with Inner Ear Malformation

(2012) Kaitian Chen et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Mutations of the Mouse ELMO Domain Containing 1 Gene (Elmod1) Link Small GTPase Signaling to Actin Cytoskeleton Dynamics in Hair Cell Stereocilia

(2012) Kenneth R. Johnson et al.   PLoS One

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

(2012) E. E. Norgett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Failure of Fluid Absorption in the Endolymphatic Sac Initiates Cochlear Enlargement that Leads to Deafness in Mice Lacking Pendrin Expression

(2010) Hyoung-Mi Kim et al.   PLoS One

Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

(2009) Tao Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

(2009) Elena Andreucci et al.   PEDIATRIC NEPHROLOGY

The Forkhead Transcription Factor Foxi1 Is a Master Regulator of Vacuolar H+-ATPase Proton Pump Subunits in the Inner Ear, Kidney and Epididymis

(2009) Hilmar Vidarsson et al.   PLoS One