| 1 | CCDC126, SLC26A4
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| Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
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| Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L.
|
| Front Genet. Nov 30;9:600. doi: 10.3389/fgene.2018.00600 2018
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| 2 | DFNB4, SLC26A4
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| SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
| Rendtorff ND, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansén EC, Nickelsen LA, Tümer Z, Fagerheim T, Wetke R, Tranebjaerg L.
|
| Clin Genet 84(4):388-91. doi: 10.1111/cge.12074. Epub 2013 Jan 22. No abstract available.
2013
|
| 3 | SLC25A1, SLC26A2, SLC26A4, SLS26A3
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| The SLC26 gene family of anion transporters and channels.
|
| Alper SL, Sharma AK.
|
| Mol Aspects Med 34(2-3):494-515. doi: 10.1016/j.mam.2012.07.009. Review.
2013
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| 4 | RNF5, SLC26A4
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| Roles of 17-AAG-induced molecular chaperones and Rma1 E3 ubiquitin ligase in folding and degradation of Pendrin.
|
| Lee K, Hong TJ, Hahn JS.
|
| FEBS Lett 586(16):2535-41. doi: 10.1016/j.febslet.2012.06.023. Epub 2012 Jun 27.
2012
|
| 5 | CFTR, SLC26A4
|
| Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells.
|
| Garnett JP, Hickman E, Burrows R, Hegyi P, Tiszlavicz L, Cuthbert AW, Fong P, Gray MA.
|
| J Biol Chem 286(47):41069-82. doi: 10.1074/jbc.M111.266734. Epub 2011 Sep 13.
2011
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| 6 | DFNB4, SLC26A4
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| Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.
|
| Guo YF, Wang YL, Xu BC, Liu XW, Zhu YM, Zhao FF, Ji YB, Zhou Y, Li JQ, Li Q, Wang DY, Wang QJ.
|
| Int J Pediatr Otorhinolaryngol 74(7):831-5. Epub 2010 May 18.
2010
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| 7 | SLC26A4
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| Deletion of the anion exchanger Slc26a4 (pendrin) decreases apical Cl(-)/HCO3(-) exchanger activity and impairs bicarbonate secretion in kidney collecting duct.
|
| Amlal H, Petrovic S, Xu J, Wang Z, Sun X, Barone S, Soleimani M.
|
| Am J Physiol Cell Physiol 299(1):C33-41. Epub 2010 Apr 7.
2010
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| 8 | SLC26A4
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| Pendrin and sodium channels: relevance to hypertension.
|
| Wall SM, Pech V.
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| J Nephrol 23 Suppl 16:S118-23.
2010
|
| 9 | SLC26A4
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| Pendrin is a novel autoantigen recognized by patients with autoimmune thyroid diseases.
|
| Yoshida A, Hisatome I, Taniguchi S, Shirayoshi Y, Yamamoto Y, Miake J, Ohkura T, Akama T, Igawa O, Shigemasa C, Kamijo K, Ikuyama S, Caturegli P, Suzuki K.
|
| J Clin Endocrinol Metab 94(2):442-8. Epub 2008 Dec 2.
2009
|
| 10 | KCNJ10, SLC26A4
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| Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
|
| Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.
|
| Am J Hum Genet 84(5):651-7. Epub 2009 May 7.
2009
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| 11 | DFNB4, SLC26A4
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| SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
|
| Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-Ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S.
|
| J Hum Genet 54(5):266-70. Epub 2009 Mar 13.
2009
|
| 12 | PDS, SLC26A4
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| Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
| 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.
|
| Hum Mutat 30(4):599-608.
2009
|
| 13 | DFNB4, SLC26A4
|
| Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
|
| Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ.
|
| J Med Genet 46(12):856-61. Epub 2009 Jul 2.PMID: 19578036 2009
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| 14 | SLC26A4
|
| Role of pendrin in iodide balance: going with the flow.
|
| Kim YH, Pham TD, Zheng W, Hong S, Baylis C, Pech V, Beierwaltes WH, Farley DB, Braverman LE, Verlander JW, Wall SM.
|
| Am J Physiol Renal Physiol 297(4):F1069-79. Epub 2009 Jul 15.
2009
|
| 15 | DFNB4, PDS, SLC26A4
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| 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.
|
| Pera A, Villamar M, Vińuela A, Gandía M, Medŕ C, Moreno F, Hernández-Chico C.
|
| Eur J Hum Genet 16(8):888-96. Epub 2008 Feb 20.
2008
|
| 16 | DFNB4, PDS, SLC26A4
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| Heterogeneity in the processing defect of SLC26A4 mutants.
|
| Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG.
|
| J Med Genet 45(7):411-9. Epub 2008 Feb 29. 2008
|
| 17 | SLC26A4
|
| Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease.
|
| Nakao I, Kanaji S, Ohta S, Matsushita H, Arima K, Yuyama N, Yamaya M, Nakayama K, Kubo H, Watanabe M, Sagara H, Sugiyama K, Tanaka H, Toda S, Hayashi H, Inoue H, Hoshino T, Shiraki A, Inoue M, Suzuki K, Aizawa H, Okinami S, Nagai H, Hasegawa M, Fukuda T, Green ED, Izuhara K.
|
| J Immunol 180(9):6262-9.
2008
|
| 18 | SLC26A4, FOXI1
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| Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4).
|
| Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ.
|
| Am J Hum Genet 80(6):1055-63. Epub 2007 Apr 23. 2007
|
| 19 | DFNB4,SLC26A4
|
| Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
|
| Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.
|
| J Hum Genet 52(6):492-7. Epub 2007 Apr 19. 2007
|
| 20 | DFNB4, SLC26A4
|
| A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
|
| Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y.
|
| Clin Genet 72(3):245-54. 2007
|
| 21 | SLC26A4, PDS
|
| Genotype-phenotype correlations for SLC26A4-related deafness.
|
| Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.
|
| Hum Genet 122(5):451-7. Epub 2007 Aug 10. 2007
|
| 22 | SLC26A1, SLC26A10, SLC26A11, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9
|
| Renal physiology of SLC26 anion exchangers.
|
| Sindić A, Chang MH, Mount DB, Romero MF.
|
| Curr Opin Nephrol Hypertens 16(5):484-90. Review.
2007
|
| 23 | DFNB4, SLC26A4
|
| SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
| Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabedian EN, Couderc R, Marlin S, Denoyelle F.
|
| Eur J Hum Genet 14(6):773-9. 2006
|
| 24 | TPO, SLC26A4, PDS, TIOD
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| Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
|
| Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Mller-Forell W, Kopp P, Pohlenz J.
|
| J Clin Endocrinol Metab 91(7):2678-81. Epub 2006 May 9. 2006
|
| 25 | SLC26A4, PDS
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| Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.
|
| Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H.
|
| J Hum Genet 51(9):805-10. Epub 2006 Aug 19. 2006
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| 26 | SLC26A1, SLC26A10, SLC26A11, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9
|
| SLC26 chloride/base exchangers in the kidney in health and disease.
|
| Soleimani M, Xu J.
|
| Semin Nephrol 26(5):375-85. Review.
2006
|
| 27 | SLC26A4, PDS, DFNB4
|
| 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.
|
| Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ.
|
| J Med Genet 42(2):159-65. No abstract available. 2005
|
| 28 | DFNB4, SLC26A4, PDS
|
| Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
|
| Arellano B, Pera A, Ramirez-Camacho R, Villamar M, Trinidad A, Garcia JR, Moreno F, Hernandez-Chico C.
|
| Clin Genet 67(5):438-40. No abstract available. 2005
|
| 29 | SLC26A4, PDS
|
| Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.
|
| Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, Li SY.
|
| Hear Res 199(1-2):22-30. 2005
|
| 30 | SLC26A4, NKX2-1
|
| Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.
|
| Dentice M, Luongo C, Elefante A, Ambrosio R, Salzano S, Zannini M, Nitsch R, Di Lauro R, Rossi G, Fenzi G, Salvatore D.
|
| Mol Cell Biol 25(22):10171-82. 2005
|
| 31 | DFNB4, SLC26A4
|
| Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
| Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ.
|
| Am J Med Genet 124A(1):1-9. 2004
|
| 32 | SLC26A4, PDS
|
| Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
|
| Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M.
|
| Clin Genet 65(5):384-9. 2004
|
| 33 | SLC26A4, PDS
|
| Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
| Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S.
|
| Clin Genet 66(4):333-40. 2004
|
| 34 | PDS, SLC26A4
|
| Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
|
| Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino E.
|
| J Endocrinol Invest 27(5):430-5. 2004
|
| 35 | PDS, SLC26A4
|
| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
| Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.
|
| J Med Genet 40(4):242-8. 2003
|
| 36 | SLC26A4, PDS
|
| Expression of PDS/Pds, the Pendred syndrome gene, in endometrium.
|
| Suzuki K, Royaux IE, Everett LA, Mori-Aoki A, Suzuki S, Nakamura K, Sakai T, Katoh R, Toda S, Green ED, Kohn LD.
|
| J Clin Endocrinol Metab 87(2):938. 2002
|
| 37 | SLC26A4
|
| Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
| Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC.
|
| J Clin Endocrinol Metab 87(4):1778-84. 2002
|
| 38 | DFNB4, PDS, SLC26A4
|
| Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
| Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.
|
| Hum Mutat 17(5):403-11. 2001
|
| 39 | SLC26A4
|
| 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.
|
| Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED.
|
| Endocrinology 141(2):839-45. 2000
|
| 40 | DFNB1, DFNB4, DFNB9, GJB2, OTOF, SLC26A4
|
| Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
|
| Adato A, Raskin L, Petit C, Bonne-Tamir B.
|
| Eur J Hum Genet 8(6):437-42. 2000
|
| 41 | DFNB4, SLC26A4
|
| Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
|
| Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC.
|
| Hum Mol Genet 9(11):1709-15. 2000
|
| 42 | SLC26A4
|
| A novel mutation in the pendrin gene associated with Pendred's syndrome.
|
| Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L.
|
| Clin Endocrinol (Oxf) 52(3):279-85. 2000
|
| 43 | SLC26A5, SLC26A1, SLC26A10, SLC26A11, SLC26A6, SLC26A7, SLC26A8, SLC26A4
|
| Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
|
| Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J.
|
| Genomics 70(1):102-12. 2000
|
| 44 | SLC26A4, SLC26A2, SLC26A3
|
| The STAS domain - a link between anion transporters and antisigma-factor antagonists.
|
| Aravind L, Koonin EV.
|
| Curr Biol 10(2):R53-5. No abstract available. 2000
|
| 45 | SLC26A4
|
| Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.
|
| Bidart JM, Mian C, Lazar V, Russo D, Filetti S, Caillou B, Schlumberger M.
|
| J Clin Endocrinol Metab 85(5):2028-33. 2000
|
| 46 | SLC26A4
|
| Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.
|
| Kopp P, et al.
|
| J Clin Endocrinol Metab 84(1):336-41. 1999
|
| 47 | DFNB4, SLC26A4
|
| Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
|
| Usami S, et al.
|
| Hum Genet 104(2):188-92. 1999
|
| 48 | SLC26A4
|
| The Pendred syndrome gene encodes a chloride-iodide transport protein.
|
| Scott DA, et al.
|
| Nat Genet 21(4):440-3. 1999
|
| 49 | SLC26A4
|
| Further refinement of pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.
|
| Mustapha M, et al.
|
| J Med Genet 35 : 202-204. 1998
|
| 50 | DFNB4, SLC26A4
|
| A mutation in PDS causes non-syndromic recessive deafness.
|
| Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.
|
| Nat Genet 18(3):215-7. No abstract available. 1998
|
| 51 | SLC26A4
|
| Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).
|
| Coyle B, et al.
|
| Hum Mol Genet 7 : 1105-1112. 1998
|
| 52 | SLC26A4
|
| Two frequent missense mutations in Pendred syndrome.
|
| Van Hauwe P, et al.
|
| Hum Mol Genet 7 : 1099-1104. 1998
|
| 53 | DFNB4, DFNB17, SLC26A4
|
| Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
|
| Greinwald JH, et al.
|
| Am J Med Genet 78 : 107-113. 1998
|
| 54 | SLC26A4
|
| The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.
|
| Coucke P, et al.
|
| Genomics 40 : 48-54. 1997
|
| 55 | SLC26A4
|
| Pendred syndrome : evidence for genetic homogeneity and further refinement of linkage.
|
| Gausden E, et al.
|
| J Med Genet 34 : 126-129. 1997
|
| 56 | SLC26A4
|
| Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
|
| Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.
|
| Nat Genet 17(4):411-22. 1997
|
| 57 | SLC26A4
|
| Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
|
| Sheffield VC, et al.
|
| Nat Genet 12 : 424-426. 1996
|
| 58 | SLC26A4
|
| Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
|
| Coyle B, et al.
|
| Nat Genet 12 : 421-423. 1996
|
| 59 | TPO, SLC26A4
|
| Thyroid peroxidase : evidence for disease gene exclusion in Pendred's syndrome.
|
| Gausden E, et al.
|
| Clin Endocrinol 44 : 441-446. 1996
|
| 60 | SLC26A4, WT1
|
| A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.
|
| Ghahremani M, et al.
|
| Hum Hered 46 : 336-338. 1996
|
| 61 | SLC26A4, WT1
|
| DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations.
|
| Little M, et al.
|
| Hum Mol Genet 4 : 351-358. 1995
|
| 62 | DFNB4, SLC26A4
|
| Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
|
| Baldwin CT, et al.
|
| Hum Mol Genet 4 : 1637-1642. 1995
|
| 63 | WT1, SLC26A4
|
| WT1 mutations in patients with Denys-Drash syndrome : a novel mutation in exon 8 and paternal allele origin.
|
| Nordenskjld A, et al.
|
| Hum Genet 93 : 115-120. 1994
|
| 64 | SLC26A4, WT1
|
| WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.
|
| Bardeesy N, et al.
|
| Genomics 21 : 663-665. 1994
|
| 65 | WT1, SLC26A4
|
| Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.
|
| Little M, et al.
|
| Hum Mol Genet 2 : 259-264. 1993
|
| 66 | WT1, SLC26A4
|
| A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.
|
| Akasaka Y, et al.
|
| FEBS Lett 317 : 39-43. 1993
|
| 67 | WT1, SLC26A4
|
| Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome.
|
| Knig A, et al.
|
| Hum Mol Genet 2 : 1967-1968. 1993
|
| 68 | WT1, SLC26A4
|
| A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms'tumor) in a patient with Denys-Drash syndrome.
|
| Sakai A, et al.
|
| Hum Mol Genet 2 : 1969-1970. 1993
|
| 69 | SLC26A4
|
| A novel zinc finger mutation in a patient with Denys-Drash syndrome.
|
| Baird PN, et al.
|
| Hum Mol Genet 2 : 2193-2194. 1993
|
| 70 | SLC26A4, FS, WT1
|
| Distinct molecular origins for Denys-Drash and Frasier syndromes.
|
| Poulat F, et al.
|
| Hum Genet 91 : 285-286. 1993
|
| 71 | WT1, SLC26A4
|
| Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations.
|
| Schneider S, et al.
|
| Hum Genet 91 : 599-604. 1993
|
| 72 | WT1, SLC26A4
|
| Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities.
|
| Clarkson PA, et al.
|
| J Med Genet 30 : 767-772. 1993
|
| 73 | SLC26A4, WT1
|
| A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome.
|
| Ogawa O, et al.
|
| Hum Mol Genet 2 : 203-204. 1993
|
| 74 | SLC26A4
|
| Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome-proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.
|
| Hastie ND.
|
| Hum Mol Genet 1 : 293-295. 1992
|
| 75 | SLC26A4
|
| Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.
|
| Baird PN, et al.
|
| Hum Mol Genet 1 : 301-305. 1992
|
| 76 | WT1, SLC26A4
|
| Germline intronic and exonic mutations in the Wilm's tumour gene (WT1) affecting urogenital development.
|
| Bruening W, et al.
|
| Nat Genet 1 : 144-148. 1992
|
| 77 | WT1, SLC26A4
|
| Inherited WT1 mutation in Denys-Drash syndrome.
|
| Coppes MJ, et al.
|
| Cancer Res 52 : 6125-6128. 1992
|
| 78 | SLC26A4
|
| Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
|
| Pelletier J, et al.
|
| Cell 67 : 437-447. 1991
|
| 79 | SLC26A4
|
| Molecular analysis of chromosome region 11p13 in patients with Drash syndrome.
|
| Jadresic L, et al.
|
| Hum Genet 86 : 497-501. 1991
|