Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Molecular and Cellular Endocrinology

• Publication date

  2012-04-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.mce.2012.01.013PMID 22285650
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Life-threatening metabolic alkalosis in Pendred syndrome

  2011cited by this paper
• Identification of Allelic Variants of Pendrin (SLC26A4) with Loss and Gain of Function

  2011influential reference
• Regulation of pendrin by pH: dependence on glycosylation.

  2011cited by this paper
• Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.

  2010cited by this paper
• Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

  2010cited by this paper
• Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

  2010influential reference
• Genetics and phenomics of Pendred syndrome.

  2010cited by this paper
• Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

  2009cited by this paper
• Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

  2009cited by this paper
• Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

  2009cited by this paper
• Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.

  2009cited by this paper
• Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or coincidental polymorphisms?

  2009cited by this paper
• The Forkhead Transcription Factor Foxi1 Is a Master Regulator of Vacuolar H+-ATPase Proton Pump Subunits in the Inner Ear, Kidney and Epididymis

  2009cited by this paper
• Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

  2009influential reference
• Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome.

  2008cited by this paper
• Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene.

  2008cited by this paper
• Heterogeneity in the processing defect of SLC26A4 mutants

  2008cited by this paper
• A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

  2008influential reference
• Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

  2008influential reference
• High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.

  2007influential reference
• A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

  2007cited by this paper
• Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

  2007cited by this paper
• Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

  2007influential reference
• The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.

  2007cited by this paper
• Functional Characterization of Wild-Type and a Mutated Form of SLC26A4 Identified in a Patient with Pendred Syndrome

  2006cited by this paper
• Fast Fluorometric Method for Measuring Pendrin (SLC26A4) Cl-/I- Transport Activity

  2006cited by this paper
• Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility

  2006cited by this paper
• [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].

  2005cited by this paper
• Protein synthesis inhibitors and the chemical chaperone TMAO reverse endoplasmic reticulum perturbation induced by overexpression of the iodide transporter pendrin

  2005influential reference
• SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

  2005influential reference
• Molecular Analysis of the PDS Gene in a Nonconsanguineous Sicilian Family with Pendred's Syndrome

  2005cited by this paper
• Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

  2004cited by this paper
• Distal renal tubular acidosis

  2004cited by this paper
• Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.

  2004influential reference
• Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

  2004cited by this paper
• Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.

  2004cited by this paper
• Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

  2003cited by this paper
• Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios

  2003cited by this paper
• Differential Diagnosis between Pendred and Pseudo-Pendred Syndromes: Clinical, Radiologic, and Molecular Studies

  2002influential reference
• Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

  2002cited by this paper
• Characterization and semiquantitative analyses of pendrin expressed in normal and tumoral human thyroid tissues.

  2002influential reference
• KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential.

  2002cited by this paper
• Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

  2001cited by this paper
• Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations

  2001cited by this paper
• Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells.

  2000cited by this paper
• Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

  2000influential reference
• Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

  1999cited by this paper
• Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.

  1999cited by this paper

• Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

  2025cites this paper
• Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

  2023cites this paper
• Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

  2022cites this paper
• Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

  2021cites this paper
• Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

  2019cites this paper
• Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

  2018cites this paper
• Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

  2018cites this paper
• Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

  2018cites this paper
• Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

  2017cites this paper
• Genetic Diagnosis of Deafness

  2017cites this paper
• The Pendrin Polypeptide

  2017cites this paper
• In silico analysis of membrane transport/permeability mechanisms

  2017cites this paper
• Pendred syndrome.

  2017cites this paper
• A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing

  2016cites this paper
• Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA

  2015cites this paper
• Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

  2015cites this paper
• Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

  2015cites this paper
• Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss

  2014cites this paper
• Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

  2014cites this paper
• Development of arrayed primer extension microarray assays for molecular diagnostic applications

  2013cites this paper
• Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

  2013cites this paper
• Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

  2013cites this paper
• Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

  2012cites this paper