메뉴 건너뛰기




Volumn 38, Issue 3, 2009, Pages 281-290

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss (Physiological Genomics (2009) 38, (281-290) DOI: 10.1152/physiolgenomics.00047.2009);Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss

Author keywords

Chloride bicarbonate exchange; Enlargement of vestibular aqueduct; Goiter; Iodide transport; Pendred syndrome

Indexed keywords

MUTANT PROTEIN; POLYPEPTIDE;

EID: 68849086394     PISSN: 10948341     EISSN: 15312267     Source Type: Journal    
DOI: 10.1152/physiolgenomics.zh7-3421-corr.2010     Document Type: Erratum
Times cited : (57)

References (38)
  • 7
    • 59349086651 scopus 로고    scopus 로고
    • Molecular etiology of hearing impairment in Inner Mongolia: Mutations in SLC26A4 gene and relevant phenotype analysis
    • Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med 6: 74, 2008.
    • (2008) J Transl Med , vol.6 , pp. 74
    • Dai, P.1    Yuan, Y.2    Huang, D.3    Zhu, X.4    Yu, F.5    Kang, D.6    Yuan, H.7    Wu, B.8    Han, D.9    Wong, L.J.10
  • 10
    • 1842581804 scopus 로고    scopus 로고
    • Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux
    • Gillam MP, Sidhaye AR, Lee EJ, Rutishauser J, Stephan CW, Kopp P. Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. J Biol Chem 279: 13004-13010, 2004.
    • (2004) J Biol Chem , vol.279 , pp. 13004-13010
    • Gillam, M.P.1    Sidhaye, A.R.2    Lee, E.J.3    Rutishauser, J.4    Stephan, C.W.5    Kopp, P.6
  • 13
    • 34249741683 scopus 로고    scopus 로고
    • 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. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet 52: 492-497, 2007.
    • (2007) J Hum Genet , vol.52 , pp. 492-497
    • Hu, H.1    Wu, L.2    Feng, Y.3    Pan, Q.4    Long, Z.5    Li, J.6    Dai, H.7    Xia, K.8    Liang, D.9    Niikawa, N.10    Xia, J.11
  • 18
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening - a silent revolution
    • Morton CC, Nance WE. Newborn hearing screening - a silent revolution. N Engl J Med 354: 2151-2164, 2006.
    • (2006) N Engl J Med , vol.354 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 22
    • 0942287860 scopus 로고    scopus 로고
    • 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. 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 124A: 1-9, 2004.
    • (2004) Am J Med Genet , vol.124 A , pp. 1-9
    • Prasad, S.1    Kolln, K.A.2    Cucci, R.A.3    Trembath, R.C.4    Van Camp, G.5    Smith, R.J.6
  • 23
  • 24
    • 13444254030 scopus 로고    scopus 로고
    • 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. 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: 159-165, 2005.
    • (2005) J Med Genet , vol.42 , pp. 159-165
    • Pryor, S.P.1    Madeo, A.C.2    Reynolds, J.C.3    Sarlis, N.J.4    Arnos, K.S.5    Nance, W.E.6    Yang, Y.7    Zalewski, C.K.8    Brewer, C.C.9    Butman, J.A.10    Griffith, A.J.11
  • 27
    • 0034235222 scopus 로고    scopus 로고
    • 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. 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: 1709-1715, 2000.
    • (2000) Hum Mol Genet , vol.9 , pp. 1709-1715
    • Scott, D.A.1    Wang, R.2    Kreman, T.M.3    Andrews, M.4    McDonald, J.M.5    Bishop, J.R.6    Smith, R.J.7    Karniski, L.P.8    Sheffield, V.C.9
  • 29
    • 0036283790 scopus 로고    scopus 로고
    • 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. 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: 1778-1784, 2002.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 1778-1784
    • Taylor, J.P.1    Metcalfe, R.A.2    Watson, P.F.3    Weetman, A.P.4    Trembath, R.C.5
  • 30
    • 0346025681 scopus 로고    scopus 로고
    • 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
    • Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. 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: 916-922, 2003.
    • (2003) Eur J Hum Genet , vol.11 , pp. 916-922
    • Tsukamoto, K.1    Suzuki, H.2    Harada, D.3    Namba, A.4    Abe, S.5    Usami, S.6
  • 31
    • 0033015606 scopus 로고    scopus 로고
    • Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
    • Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104: 188-192, 1999.
    • (1999) Hum Genet , vol.104 , pp. 188-192
    • Usami, S.1    Abe, S.2    Weston, M.D.3    Shinkawa, H.4    Van Camp, G.5    Kimberling, W.J.6
  • 36
    • 84984550566 scopus 로고    scopus 로고
    • Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation
    • Wu CC, Yeh TH, Chen PJ, Hsu CJ. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 115: 1060-1064, 2005.
    • (2005) Laryngoscope , vol.115 , pp. 1060-1064
    • Wu, C.C.1    Yeh, T.H.2    Chen, P.J.3    Hsu, C.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.