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  • Adler L, Efrati E, Zelikovic I. 2008. Molecular Mechanisms of Epithelial Cell-Specific Expression and Regulation of the Human Anion Exchanger (Pendrin) Gene. Am J Physiol Cell Physiol 294:C1261C1276.
  • Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S and others. 2006. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 14:773779.
  • Arwert LI, Sepers JM. 2008. Goitre and hearing impairment in a patient with Pendred syndrome. Neth J Med 66:118120.
  • Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. 2007. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 122:451457.
  • Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. 2006. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439:326330.
  • Banghova K, Taji EA, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J. 2008. Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations. Eur J Pediatr 167:777783.
  • Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D and others. 2004. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 66:333340.
  • Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA. 2005. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet 116:402406.
  • Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J. 2003. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab 88:29162921.
  • Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB. 2008. A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum. Arch Otolaryngol Head Neck Surg 134:403407.
  • Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. 2001. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17:403411.
  • Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R and others. 1999. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 36:475477.
  • Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD and others. 1998. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7:11051112.
  • Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, Green ED, van Camp G, Otten BJ. 1998a. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Int J Pediatr Otorhinolaryngol 45:113123.
  • Cremers WR, Bolder C, Admiraal RJ, Everett LA, Joosten FB, van Hauwe P, Green ED, Otten BJ. 1998b. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg 124:501505.
  • Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD and others. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411422.
  • Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P. 2002. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res 51:479484.
  • Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N and others. 2007. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet 52:492497.
  • Karniski LP. 2001. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet 10:14851490.
  • Karniski LP. 2004. Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. Hum Mol Genet 13:21652171.
  • King KA, Makishima T, Zalewski CK, Bakalov VK, Griffith AJ, Bondy CA, Brewer CC. 2007. Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. Ear Hear 28:831841.
  • Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ. 2007. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin Genet 72:546550.
  • Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. 1998. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215217.
  • Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X. 2001. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 18:548.
  • Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X. 2002. Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 20:7778.
  • Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V and others. 2007. The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. Arch Otolaryngol Head Neck Surg 133:162168.
  • Madeo AC, Pryor SP, Brewer C, Zalewski C, King K, Butman JA, Yang Y, Park HJ, Griffith AJ. 2006. Pendred Syndrome. Semin Hear 27:160170.
  • Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H. 2000. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet 90:3844.
  • Noguchi Y, Kurima K, Makishima T, de Angelis MH, Fuchs H, Frolenkov G, Kitamura K, Griffith AJ. 2006. Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36. Genetics 173:21112119.
  • Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K and others. 2003. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40:242248.
  • Pera A, Villamar M, Vinuela A, Gandia M, Meda C, Moreno F, Hernandez-Chico C. 2008. 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. Eur J Hum Genet: 16:888896.
  • Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J. 2006. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab 91:26782681.
  • Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG and others. 1998. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268273.
  • Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ. 2004. Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A 124:19.
  • Pryor SP, Demmler GJ, Madeo AC, Yang Y, Zalewski CK, Brewer CC, Butman JA, Fowler KB, Griffith AJ. 2005a. Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 131:388392.
  • Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA and others. 2005b. 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. J Med Genet 42:159165.
  • Pryor SP, Park HJ, Madeo AC, Griffith AJ. 2003. Pendred Syndrome. In: WillemsPJ, editor. Genetic Hearing Loss. New York: Marcel Dekker, Inc. p 7596.
  • Reardon W, CF OM, Trembath R, Jan H, Phelps PD. 2000. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. QJM 93:99104.
  • Rotman-Pikielny P, Hirschberg K, Maruvada P, Suzuki K, Royaux IE, Green ED, Kohn LD, Lippincott-Schwartz J, Yen PM. 2002. Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum Mol Genet 11:26252633.
  • Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED. 2000. 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. Endocrinology 141:839845.
  • Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. 2000. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 9:17091715.
  • Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. 1999. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440443.
  • Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M. 2004. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Clin Genet 65:384389.
  • Stewart AK, Kerr N, Chernova MN, Alper SL, Vaughan-Jones RD. 2004. Acute pH-dependent regulation of AE2-mediated anion exchange involves discrete local surfaces of the NH2-terminal cytoplasmic domain. J Biol Chem 279:5266452676.
  • Stewart AK, Kurschat CE, Vaughan-Jones RD, Shmukler BE, Alper SL. 2007. Acute regulation of mouse AE2 anion exchanger requires isoform-specific amino acid residues from most of the transmembrane domain. J Physiol 584(Pt 1):5973.
  • Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC. 2002. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 87:17781784.
  • Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. 2003. 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. Eur J Hum Genet 11:916922.
  • Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. 1999. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188192.
  • Valvassori GE, Clemis JD. 1978. The large vestibular aqueduct syndrome. Laryngoscope 88:723728.
  • Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL and others. 1998. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 7:10991104.
  • Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, Sanneman JD, Harbidge DG, Billings S, Marcus DC. 2007. Loss of cochlear HCOmath image secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 292:F134553.
  • Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80:10551063.
  • Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG. 2008. Heterogeneity in the processing defect of SLC26A4 mutants. J Med Genet 45:411419.