Choi BY , Stewart AK , Madeo AC , Pryor SP , Lenhard S , Kittles R , Eisenman D , Kim HJ , Niparko J , Thomsen J , Arnos KS , Nance WE , King KA , Zalewski CK , Brewer CC , Shawker T , Reynolds JC , Butman JA , Karniski LP , Alper SL , Griffith AJ .

DK34854 NIDDK NIH HHS , DK43495 NIDDK NIH HHS , R37 DK043495-17 NIDDK NIH HHS , Intramural NIH HHS, Z01 DC000060 NIDCD NIH HHS , Z01 DC000064 NIDCD NIH HHS , R37 DK043495 NIDDK NIH HHS , P30 DK034854 NIDDK NIH HHS , Z01 DC000060 Intramural NIH HHS, Z01 DC000064 Intramural NIH HHS

Adler, Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene. 2008, Pubmed

Adler, Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene. 2008, Pubmed
Albert, SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 2006, Pubmed
Arwert, Goitre and hearing impairment in a patient with Pendred syndrome. 2008, Pubmed
Azaiez, Genotype-phenotype correlations for SLC26A4-related deafness. 2007, Pubmed
Badano, Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 2006, Pubmed
Banghova, Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. 2008, Pubmed
Blons, Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 2004, Pubmed
Bonilla, The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. 2005, Pubmed
Borck, Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 2003, Pubmed
Brownstein, A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum. 2008, Pubmed
Campbell, Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 2001, Pubmed
Coucke, Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. 1999, Pubmed
Coyle, Molecular analysis of the PDS gene in Pendred syndrome. 1998, Pubmed
Cremers, Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. 1998, Pubmed
Cremers, Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. 1998, Pubmed
Everett, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 1997, Pubmed
Fugazzola, Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 2002, Pubmed
Hu, Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 2007, Pubmed
Karniski, Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 2001, Pubmed , Xenbase
Karniski, Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 2004, Pubmed , Xenbase
King, Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. 2007, Pubmed
Kitajiri, Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. 2007, Pubmed
Li, A mutation in PDS causes non-syndromic recessive deafness. 1998, Pubmed
López-Bigas, Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 2001, Pubmed
López-Bigas, Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 2002, Pubmed
Madden, The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. 2007, Pubmed
Masmoudi, Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 2000, Pubmed
Noguchi, Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36. 2006, Pubmed
Park, Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 2003, Pubmed
Pera, 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. 2008, Pubmed
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Phelps, Radiological malformations of the ear in Pendred syndrome. 1998, Pubmed
Prasad, Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 2004, Pubmed
Pryor, 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. 2005, Pubmed
Pryor, Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. 2005, Pubmed
Reardon, Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 2000, Pubmed
Rotman-Pikielny, Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. 2002, Pubmed
Royaux, 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. 2000, Pubmed
Scott, Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). 2000, Pubmed , Xenbase
Scott, The Pendred syndrome gene encodes a chloride-iodide transport protein. 1999, Pubmed , Xenbase
Shears, Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. 2004, Pubmed
Stewart, Acute pH-dependent regulation of AE2-mediated anion exchange involves discrete local surfaces of the NH2-terminal cytoplasmic domain. 2004, Pubmed , Xenbase
Stewart, Acute regulation of mouse AE2 anion exchanger requires isoform-specific amino acid residues from most of the transmembrane domain. 2007, Pubmed , Xenbase
Taylor, Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 2002, Pubmed
Tsukamoto, Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 2003, Pubmed
Usami, Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 1999, Pubmed
Valvassori, The large vestibular aqueduct syndrome. 1978, Pubmed
Van Hauwe, Two frequent missense mutations in Pendred syndrome. 1998, Pubmed
Wangemann, Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. 2007, Pubmed
Yang, The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism? 2009, Pubmed
Yang, Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 2007, Pubmed
Yoon, Heterogeneity in the processing defect of SLC26A4 mutants. 2008, Pubmed