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Volumn 9, Issue 1, 2004, Pages 51-62

Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations

Author keywords

DFNA6 14; DIDMOAD; Genetic hearing impairment; Sex related difference; WFS1; Wolfram syndrome

Indexed keywords

ADULT; AREFLEXIA; ARTICLE; AUDIOGRAPHY; AUDIOMETRY; CLINICAL ARTICLE; CONTROLLED STUDY; DETERIORATION; DISEASE COURSE; FEMALE; GENE; GENE INACTIVATION; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PHONEME; PRIORITY JOURNAL; SEX DIFFERENCE; VESTIBULAR DISORDER; WFS1 GENE; WOLFRAM SYNDROME;

EID: 0346119137     PISSN: 14203030     EISSN: None     Source Type: Journal    
DOI: 10.1159/000074187     Document Type: Article
Times cited : (25)

References (32)
  • 1
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458-1463.
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 5
    • 84982501596 scopus 로고
    • Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and the bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients
    • Cremers CWRJ, Wijdeveld PGAB, Pinckers AJLG: Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and the bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand Suppl 1977;264:1-16.
    • (1977) Acta Paediatr Scand Suppl , vol.264 , pp. 1-16
    • Cremers, C.W.R.J.1    Wijdeveld, P.G.A.B.2    Pinckers, A.J.L.G.3
  • 13
    • 0342703121 scopus 로고
    • Wolfram's syndrome with schizophrenia and central hypoventilation: A neuropathological study
    • Gregorios JB: Wolfram's syndrome with schizophrenia and central hypoventilation: A neuropathological study. J Neuropathol Exp Neurol 1989;48:308.
    • (1989) J Neuropathol Exp Neurol , vol.48 , pp. 308
    • Gregorios, J.B.1
  • 15
    • 0025967726 scopus 로고
    • Otologic findings of DIDMOAD syndrome
    • Higashi K: Otologic findings of DIDMOAD syndrome. Am J Otol 1991;12:57-60.
    • (1991) Am J Otol , vol.12 , pp. 57-60
    • Higashi, K.1
  • 17
    • 0036357188 scopus 로고    scopus 로고
    • The clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21
    • Cremers CWRJ, Smith RJH (eds). Basel, Karger
    • Huygen PLM, Bom SJH, Van Camp G, Cremers CWRJ: The clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21; in Cremers CWRJ, Smith RJH (eds): Advances in Otorhinolaryngology. Basel, Karger, 2003, vol 61, pp 98-106.
    • (2003) Advances in Otorhinolaryngology , vol.61 , pp. 98-106
    • Huygen, P.L.M.1    Bom, S.J.H.2    Van Camp, G.3    Cremers, C.W.R.J.4
  • 20
    • 0036340518 scopus 로고    scopus 로고
    • Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
    • Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K: Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 2002;47:395-399.
    • (2002) J Hum Genet , vol.47 , pp. 395-399
    • Komatsu, K.1    Nakamura, N.2    Ghadami, M.3    Matsumoto, N.4    Kishino, T.5    Ohta, T.6    Niikawa, N.7    Yoshiura, K.8
  • 21
    • 0034901733 scopus 로고    scopus 로고
    • Estrogen acutely inhibits ion transport by isolated stria vascularis
    • Lee JH, Marcus DC: Estrogen acutely inhibits ion transport by isolated stria vascularis. Hear Res 2001;158:123-130.
    • (2001) Hear Res , vol.158 , pp. 123-130
    • Lee, J.H.1    Marcus, D.C.2
  • 26
    • 0036188982 scopus 로고    scopus 로고
    • A nonclassical estrogen membrane receptor triggers rapid differential actions in the endocrine pancreas
    • Ropero AB, Soria B, Nadal A: A nonclassical estrogen membrane receptor triggers rapid differential actions in the endocrine pancreas. Mol Endocrinol 2002;16:497-505.
    • (2002) Mol Endocrinol , vol.16 , pp. 497-505
    • Ropero, A.B.1    Soria, B.2    Nadal, A.3
  • 27
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998;7:2021-2028.
    • (1998) Hum Mol Genet , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hörtnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6    Gerbitz, K.D.7    Meitinger, T.8
  • 28
    • 0035283066 scopus 로고    scopus 로고
    • WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
    • Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka Y: WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001;10:477-484.
    • (2001) Hum Mol Genet , vol.10 , pp. 477-484
    • Takeda, K.1    Inoue, H.2    Tanizawa, Y.3    Matsuzaki, Y.4    Oba, J.5    Watanabe, Y.6    Shinoda, K.7    Oka, Y.8
  • 30
    • 0014333011 scopus 로고
    • Dominantly inherited low-frequency hearing loss
    • The Vanderbilt University Hereditary Deafness Study Group: Dominantly inherited low-frequency hearing loss. Arch Otolaryngol 1968;88:242-250.
    • (1968) Arch Otolaryngol , vol.88 , pp. 242-250
  • 31
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • Wolfram DJ, Wagener H: Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Proc Mayo Clin 1938;13:715-718.
    • (1938) Proc Mayo Clin , vol.13 , pp. 715-718
    • Wolfram, D.J.1    Wagener, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.