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Volumn 69, Issue 2, 2005, Pages 136-141

Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome

Author keywords

Hypopituitarism; WFS1; Wolfram syndrome

Indexed keywords

DESMOPRESSIN; INSULIN; MEMBRANE PROTEIN; NUCLEOTIDE;

EID: 21744434204     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2005.01.002     Document Type: Article
Times cited : (8)

References (18)
  • 1
    • 0000804149 scopus 로고
    • Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
    • D.J. Wolfram, and H.P. Wagener Diabetes mellitus and simple optic atrophy among siblings: report of four cases Mayo Clin. Proc. 13 1938 715 718
    • (1938) Mayo Clin. Proc. , vol.13 , pp. 715-718
    • Wolfram, D.J.1    Wagener, H.P.2
  • 2
    • 0017645098 scopus 로고
    • Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome
    • F.C. Fraster, and T. Gunn Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome J. Med. Genet. 14 1977 190 193
    • (1977) J. Med. Genet. , vol.14 , pp. 190-193
    • Fraster, F.C.1    Gunn, T.2
  • 3
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • T.G. Barrett, S.E. Bundey, and A.F. MacLeod Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1995 1458 1463
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    MacLeod, A.F.3
  • 4
    • 84982501596 scopus 로고
    • Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome)
    • C.W.R.J. Cremers, P.G.A.B. Wijdeveld, and A.J.L.G. Pinckers Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome) Acta Paediatr. Scand. 264 Suppl. 1977 1 16
    • (1977) Acta Paediatr. Scand. , vol.264 , Issue.SUPPL. , pp. 1-16
    • Cremers, C.W.R.J.1    Wijdeveld, P.G.A.B.2    Pinckers, A.J.L.G.3
  • 6
    • 0025081836 scopus 로고
    • Psychiatric findings in Wolfram syndrome homozygotes
    • R.G. Swift, D.B. Sadler, and M. Swift Psychiatric findings in Wolfram syndrome homozygotes Lancet 336 1990 667 669
    • (1990) Lancet , vol.336 , pp. 667-669
    • Swift, R.G.1    Sadler, D.B.2    Swift, M.3
  • 7
    • 19144366747 scopus 로고    scopus 로고
    • Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
    • A. Barrientos, J. Casademont, and A. Saiz Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion Am. J. Hum. Genet. 58 1996 963 970
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 963-970
    • Barrientos, A.1    Casademont, J.2    Saiz, A.3
  • 8
    • 17344362695 scopus 로고    scopus 로고
    • A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
    • H. Inoue, Y. Tanizawa, and J. Wasson A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 1998 143 148
    • (1998) Nat. Genet. , vol.20 , pp. 143-148
    • Inoue, H.1    Tanizawa, Y.2    Wasson, J.3
  • 9
    • 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
    • K. Takeda, H. Inoue, and Y. Tanizawa WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain Hum. Mol. Genet. 10 2001 477 484
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 477-484
    • Takeda, K.1    Inoue, H.2    Tanizawa, Y.3
  • 10
    • 0347362797 scopus 로고    scopus 로고
    • Wolframin expression induces novel ion channel activity in endoplasmic reticulum membrane and increases intracellular calcium
    • A. Abdullah, M. Saito, and C. Makepeace Wolframin expression induces novel ion channel activity in endoplasmic reticulum membrane and increases intracellular calcium J. Biol. Chem. 278 2003 52755 52762
    • (2003) J. Biol. Chem. , vol.278 , pp. 52755-52762
    • Abdullah, A.1    Saito, M.2    Makepeace, C.3
  • 11
    • 32644456181 scopus 로고
    • Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome
    • J. Vendrell, G. Ercilla, and A. Faundez Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome Diab. Res. Clin. Prac. 49 1994 61 63
    • (1994) Diab. Res. Clin. Prac. , vol.49 , pp. 61-63
    • Vendrell, J.1    Ercilla, G.2    Faundez, A.3
  • 12
    • 0026755751 scopus 로고
    • Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging
    • T.A. Rando, J.C. Horton, and R.B. Layzer Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging Neurology 42 1992 1220 1224
    • (1992) Neurology , vol.42 , pp. 1220-1224
    • Rando, T.A.1    Horton, J.C.2    Layzer, R.B.3
  • 13
    • 0033361879 scopus 로고    scopus 로고
    • Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
    • C. Hardy, F. Khanim, and R. Torres Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1 Am. J. Hum. Genet. 65 1999 1279 1290
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1279-1290
    • Hardy, C.1    Khanim, F.2    Torres, R.3
  • 14
    • 0035318814 scopus 로고    scopus 로고
    • Identification of novel WFS1 mutations in Italian children with Wolfram syndrome
    • A. Tessa, I. Carbone, and M.C. Matteoli Identification of novel WFS1 mutations in Italian children with Wolfram syndrome Hum. Mutat. 17 2001 348 349
    • (2001) Hum. Mutat. , vol.17 , pp. 348-349
    • Tessa, A.1    Carbone, I.2    Matteoli, M.C.3
  • 15
    • 0034673246 scopus 로고    scopus 로고
    • Missense variations of the gene responsible for Wolfram syndrome in Japanese: Possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis
    • T. Awata, K. Inoue, and S. Kurihara Missense variations of the gene responsible for Wolfram syndrome in Japanese: Possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis Biochem. Biophys. Res. Commun. 268 2000 612 616
    • (2000) Biochem. Biophys. Res. Commun. , vol.268 , pp. 612-616
    • Awata, T.1    Inoue, K.2    Kurihara, S.3
  • 16
    • 0035032066 scopus 로고    scopus 로고
    • WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases
    • F. Khanim, J. Kirk, F. Latif, and T.G. Barrett WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases Hum. Mutat. 17 2001 357 367
    • (2001) Hum. Mutat. , vol.17 , pp. 357-367
    • Khanim, F.1    Kirk, J.2    Latif, F.3    Barrett, T.G.4
  • 17
    • 2942731683 scopus 로고    scopus 로고
    • Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion
    • H. Ishihara, S. Takeda, and A. Tamura Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion Hum. Mol. Genet. 13 2004 1159 1170
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1159-1170
    • Ishihara, H.1    Takeda, S.2    Tamura, A.3
  • 18
    • 1942505270 scopus 로고    scopus 로고
    • Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population
    • R. Medlej, J. Wasson, and P. Baz Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population J. Clin. Endocrinol. Metab. 89 2004 1656 1661
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 1656-1661
    • Medlej, R.1    Wasson, J.2    Baz, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.