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Volumn 27, Issue 6, 2006, Pages 691-694

A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearence of clinical features of Wolfram syndrome and suicidal behaviour

Author keywords

Mutation; Optic atrophy; Suicidal behaviour; WFS1 gene; Wolfram syndrome

Indexed keywords

GLYCOPROTEIN; INSULIN; PROTEIN WFS1; UNCLASSIFIED DRUG; WOLFRAMIN;

EID: 33846448738     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (17)
  • 1
    • 0030826078 scopus 로고    scopus 로고
    • Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey SE: Wolfram (DIDMOAD) syndrome. J Med Genet. 1997;34(10):838-41.
    • (1997) J Med Genet , vol.34 , Issue.10 , pp. 838-841
    • Barrett, T.G.1    Bundey, S.E.2
  • 2
    • 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(8988):1458-63.
    • (1995) Lancet , vol.346 , Issue.8988 , 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 bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients
    • Cremers CW, Wijdeveld PG, Pinckers AJ. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand. 1977; 264(Suppl):1-16.
    • (1977) Acta Paediatr Scand , vol.264 , Issue.SUPPL. , pp. 1-16
    • Cremers, C.W.1    Wijdeveld, P.G.2    Pinckers, A.J.3
  • 7
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • Erratum in: Hum Mutat. 2002; 20(5):403
    • Den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15(1):7-12. Erratum in: Hum Mutat. 2002; 20(5):403.
    • (2000) Hum Mutat , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 8
    • 85157125083 scopus 로고    scopus 로고
    • http://www.khri.med.umich.edu/research/lesperance_lab/lfsnhl.shtml.
  • 10
    • 0035032066 scopus 로고    scopus 로고
    • WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
    • Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat. 2001; 17(5):357-67.
    • (2001) Hum Mutat , vol.17 , Issue.5 , pp. 357-367
    • Khanim, F.1    Kirk, J.2    Latif, F.3    Barrett, T.G.4
  • 11
    • 0021968147 scopus 로고
    • Association of diabetes insipidus, diabetes mellitus, optic atrophy, anddeafness. The Wolfram or DIDMOAD syndrome
    • Najjar SS, Saikaly mg, Zaytoun GM, Abdelnoor A. Association of diabetes insipidus, diabetes mellitus, optic atrophy, anddeafness. The Wolfram or DIDMOAD syndrome. Arch Dis Child. 1985; 60(9):823-8.
    • (1985) Arch Dis Child , vol.60 , Issue.9 , pp. 823-828
    • Najjar, S.S.1    Saikaly, M.G.2    Zaytoun, G.M.3    Abdelnoor, A.4
  • 12
    • 0028038337 scopus 로고
    • Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
    • Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet. 1994; 8(1):95-7.
    • (1994) Nat Genet , vol.8 , Issue.1 , pp. 95-97
    • Polymeropoulos, M.H.1    Swift, R.G.2    Swift, M.3
  • 14
    • 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, Hortnagel 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(13):2021-8.
    • (1998) Hum Mol Genet , vol.7 , Issue.13 , pp. 2021-2028
    • Strom, T.M.1    Hortnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6    Gerbitz, K.D.7    Meitinger, T.8
  • 17
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc. 1938; 13:715-8.
    • (1938) Mayo Clin Proc , vol.13 , pp. 715-718
    • Wolfram, D.J.1    Wagener, H.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.