메뉴 건너뛰기




Volumn 122, Issue 5, 2007, Pages 451-457

Genotype-phenotype correlations for SLC26A4- related deafness

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; PENDRIN; PROTEIN SLC26A4; UNCLASSIFIED DRUG;

EID: 36349009217     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0415-2     Document Type: Article
Times cited : (95)

References (34)
  • 1
    • 0033590712 scopus 로고    scopus 로고
    • Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene
    • Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet 82:322-328
    • (1999) Am J Med Genet , vol.82 , pp. 322-328
    • Abe, S.1    Usami, S.2    Hoover, D.M.3    Cohn, E.4    Shinkawa, H.5    Kimberling, W.J.6
  • 3
    • 34249881626 scopus 로고    scopus 로고
    • Temporal bone imaging in GJB2 Deafness
    • Azaiez H, Smith R (2007) Temporal bone imaging in GJB2 Deafness. Laryngoscope 117(6):1127
    • (2007) Laryngoscope , vol.117 , Issue.6 , pp. 1127
    • Azaiez, H.1    Smith, R.2
  • 10
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet 353:1298-1303
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6    Petit, C.7
  • 12
    • 0033578352 scopus 로고    scopus 로고
    • Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
    • Everett LA, Morsli H, Wu DK, Green ED (1999) Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727-9732
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9727-9732
    • Everett, L.A.1    Morsli, H.2    Wu, D.K.3    Green, E.D.4
  • 13
    • 0346154518 scopus 로고
    • Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 Families
    • Fraser GR (1965) Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 Families. Ann Hum Genet 28:201-249
    • (1965) Ann Hum Genet , vol.28 , pp. 201-249
    • Fraser, G.R.1
  • 15
    • 0024836093 scopus 로고
    • The large vestibular aqueduct syndrome
    • discussion 1242-1243
    • Jackler RK, De La Cruz A (1989) The large vestibular aqueduct syndrome. Laryngoscope 99:1238-1242; discussion 1242-1243
    • (1989) Laryngoscope , vol.99 , pp. 1238-1242
    • Jackler, R.K.1    De La Cruz, A.2
  • 16
    • 27644451922 scopus 로고    scopus 로고
    • Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: Application to genetic hearing loss disorders
    • Kimberling WJ (2005) Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. Hum Mutat 26:462-470
    • (2005) Hum Mutat , vol.26 , pp. 462-470
    • Kimberling, W.J.1
  • 19
    • 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 (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 124:1-9
    • (2004) Am J Med Genet A , vol.124 , 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
  • 22
    • 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 (2005) 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) 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
  • 24
    • 0033964071 scopus 로고    scopus 로고
    • Enlarged vestibular aqueduct: A radiological marker of pendred syndrome, and mutation of the PDS gene
    • Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD (2000) Enlarged vestibular aqueduct: A radiological marker of pendred syndrome, and mutation of the PDS gene. QJM 93:99-104
    • (2000) QJM , vol.93 , pp. 99-104
    • Reardon, W.1    OMahoney, C.F.2    Trembath, R.3    Jan, H.4    Phelps, P.D.5
  • 25
    • 0033956476 scopus 로고    scopus 로고
    • Human pendrin expressed in Xenopus laevis oocytes mediates chloride/ formate exchange
    • Scott DA, Karniski LP (2000) Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol 278:C207-C211
    • (2000) Am J Physiol Cell Physiol , vol.278
    • Scott, D.A.1    Karniski, L.P.2
  • 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 (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 9:1709-1715
    • (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
  • 28
    • 1642547003 scopus 로고    scopus 로고
    • Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct
    • Sheykholeslami K, Schmerber S, Habiby Kermany M, Kaga K (2004) Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct. Hear Res 190:161-168
    • (2004) Hear Res , vol.190 , pp. 161-168
    • Sheykholeslami, K.1    Schmerber, S.2    Habiby Kermany, M.3    Kaga, K.4
  • 29
    • 14744282666 scopus 로고    scopus 로고
    • Sensorineural hearing loss in children
    • Smith RJ, Bale JF Jr, White KR (2005) Sensorineural hearing loss in children. Lancet 365:879-890
    • (2005) Lancet , vol.365 , pp. 879-890
    • Smith, R.J.1    Bale Jr., J.F.2    White, K.R.3
  • 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 (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 11:916-922
    • (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
    • 0017973478 scopus 로고
    • The large vestibular aqueduct syndrome
    • Valvassori GE, Clemis JD (1978) The large vestibular aqueduct syndrome. Laryngoscope 88:723-728
    • (1978) Laryngoscope , vol.88 , pp. 723-728
    • Valvassori, G.E.1    Clemis, J.D.2
  • 33
    • 33645563398 scopus 로고    scopus 로고
    • Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic
    • Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID (2006) Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. Am J Med Genet A 140:827-836
    • (2006) Am J Med Genet A , vol.140 , pp. 827-836
    • Yaeger, D.1    McCallum, J.2    Lewis, K.3    Soslow, L.4    Shah, U.5    Potsic, W.6    Stolle, C.7    Krantz, I.D.8
  • 34
    • 34250803246 scopus 로고    scopus 로고
    • Transcriptional control of SLC26A4 is involved in Pendred syndrome and non-syndromic enlargement of vestibular aqueduct (DFNB4)
    • Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerbäck S, Smith RJH (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and non-syndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80(6):1055-1063
    • (2007) Am J Hum Genet , vol.80 , Issue.6 , pp. 1055-1063
    • Yang, T.1    Vidarsson, H.2    Rodrigo-Blomqvist, S.3    Rosengren, S.S.4    Enerbäck, S.5    Smith, R.J.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.