메뉴 건너뛰기




Volumn 4, Issue 1, 2003, Pages 53-59

Wolfram syndrome

Author keywords

Diabetes; DIDMOAD; Neurodegeneration; WFS1; Wolfram

Indexed keywords

GENE PRODUCT; PROTEIN WFS1; UNCLASSIFIED DRUG;

EID: 0037364785     PISSN: 13899155     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021875403463     Document Type: Review
Times cited : (54)

References (38)
  • 2
    • 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;13:715-718.
    • (1938) Mayo Clin Proc , vol.13 , pp. 715-718
    • Wolfram, D.J.1    Wagener, H.P.2
  • 4
    • 0001574168 scopus 로고
    • Primary optic atrophy in diabetes mellitus
    • Tunbridge RE, Paley RG. Primary optic atrophy in diabetes mellitus. Diabetes 1956;5:295.
    • (1956) Diabetes , vol.5 , pp. 295
    • Tunbridge, R.E.1    Paley, R.G.2
  • 5
    • 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
  • 6
    • 0031466720 scopus 로고    scopus 로고
    • Optic atrophy in Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey S, Fielder A, Good P. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997;11:882-888.
    • (1997) Eye , vol.11 , pp. 882-888
    • Barrett, T.G.1    Bundey, S.2    Fielder, A.3    Good, P.4
  • 7
    • 0025081836 scopus 로고
    • Psychiatric findings in Wolfram syndrome heterozygotes
    • Swift R, Sadler D, Swift M. Psychiatric findings in Wolfram syndrome heterozygotes. Lancet 1990:336:667-669.
    • (1990) Lancet , vol.336 , pp. 667-669
    • Swift, R.1    Sadler, D.2    Swift, M.3
  • 11
    • 0017645098 scopus 로고
    • Diabetes mellitus, diabetes insipidus and optic atrophy: An autosomal recessive syndrome?
    • Fraser F, Gunn T. Diabetes mellitus, diabetes insipidus and optic atrophy: An autosomal recessive syndrome? J Med Genet 1977;14:190-193.
    • (1977) J Med Genet , vol.14 , pp. 190-193
    • Fraser, F.1    Gunn, T.2
  • 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;8:95-97.
    • (1994) Nat Genet , vol.8 , pp. 95-97
    • Polymeropoulos, M.H.1    Swift, R.G.2    Swift, M.3
  • 15
    • 0033942396 scopus 로고    scopus 로고
    • Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    • El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229-1236.
    • (2000) Am J Hum Genet , vol.66 , pp. 1229-1236
    • El-Shanti, H.1    Lidral, A.C.2    Jarrah, N.3    Druhan, L.4    Ajlouni, K.5
  • 18
    • 0027275218 scopus 로고
    • Wolfram syndrome: A mitochondrial mediated disorder?
    • Bu X, Rotter JI. Wolfram syndrome: A mitochondrial mediated disorder? Lancet 1993:342:598-600.
    • (1993) Lancet , vol.342 , pp. 598-600
    • Bu, X.1    Rotter, J.I.2
  • 21
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutation in a novel gene (wolframin) coding 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 mutation in a novel gene (wolframin) coding a predicted transmembrane protein. Hum Molec Genet 1998;7:2021-2028.
    • (1998) Hum Molec Genet , vol.7 , 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
  • 25
    • 0035283066 scopus 로고    scopus 로고
    • WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localisation 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 localisation to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Human Molecular Genetics 2001;10:477-484.
    • (2001) Human Molecular Genetics , 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
  • 28
    • 0035032066 scopus 로고    scopus 로고
    • WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases
    • Khanim F, Kirk J, Latif F, Barrett T. WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-367.
    • (2001) Hum Mutat , vol.17 , pp. 357-367
    • Khanim, F.1    Kirk, J.2    Latif, F.3    Barrett, T.4
  • 31
    • 0034599864 scopus 로고    scopus 로고
    • Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder
    • Evans KL, Lawson D, Meitinger TT, Blackwood DHR, Porteous DJ. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Am J Med Genet 2000;96:158-160.
    • (2000) Am J Med Genet , vol.96 , pp. 158-160
    • Evans, K.L.1    Lawson, D.2    Meitinger, T.T.3    Blackwood, D.H.R.4    Porteous, D.J.5
  • 33
    • 0034176621 scopus 로고    scopus 로고
    • WFS1 gene mutation search in depressive patients: Detection of 5 missense polymorphisms but no association with depression or bipolar affective disorder
    • Ohtsuki T, Ishigum H, Yoshikawa T, Arinami T WFS1 gene mutation search in depressive patients: Detection of 5 missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord 2000;58:11-17.
    • (2000) J Affect Disord , vol.58 , pp. 11-17
    • Ohtsuki, T.1    Ishigum, H.2    Yoshikawa, T.3    Arinami, T.4
  • 37
    • 0034673246 scopus 로고    scopus 로고
    • Missense variations of the gene responsible for Wolfram syndrome (WFS1/Wolframin) Japanese: Possible contribution of the arg456his mutation to type 1 diabetes as a non-autoimmune genetic basis
    • Awata T, Inoue K, Hurihara S, Ohkubo T, Onoue I, Abe T, Takino H, Kanazawa Y, Katayama S. Missense variations of the gene responsible for Wolfram syndrome (WFS1/Wolframin) Japanese: Possible contribution of the arg456his mutation to type 1 diabetes as a non-autoimmune genetic basis. Biochem Biophys Res Commun 2000;268:612-616.
    • (2000) Biochem Biophys Res Commun , vol.268 , pp. 612-616
    • Awata, T.1    Inoue, K.2    Hurihara, S.3    Ohkubo, T.4    Onoue, I.5    Abe, T.6    Takino, H.7    Kanazawa, Y.8    Katayama, S.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.