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Volumn 27, Issue 3, 2004, Pages 135-141

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 4544332211     PISSN: 0147958X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (22)

References (16)
  • 1
    • 0036884903 scopus 로고    scopus 로고
    • GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)
    • Cao H, Shorey S, Robinson J, Metzger DL, Stewart L, Cummings E, et al. GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Hum Mutat 2002;20:478-9.
    • (2002) Hum Mutat , vol.20 , pp. 478-479
    • Cao, H.1    Shorey, S.2    Robinson, J.3    Metzger, D.L.4    Stewart, L.5    Cummings, E.6
  • 2
    • 0035122282 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
    • Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001;50(Suppl 1):S94-100.
    • (2001) Diabetes , vol.50 , Issue.1 SUPPL.
    • Frayling, T.M.1    Evans, J.C.2    Bulman, M.P.3    Pearson, E.4    Allen, L.5    Owen, K.6
  • 3
    • 0036460025 scopus 로고    scopus 로고
    • Characterization of a naturally occurring mutation (L107I) in the HNF-1alpha (MODY3) gene
    • Cervin C, Orho-Melander M, Ridderstrale M, Lehto M, Barg S, Groop L, et al. Characterization of a naturally occurring mutation (L107I) in the HNF-1alpha (MODY3) gene. Diabetologia 2002;45:1703-8.
    • (2002) Diabetologia , vol.45 , pp. 1703-1708
    • Cervin, C.1    Orho-Melander, M.2    Ridderstrale, M.3    Lehto, M.4    Barg, S.5    Groop, L.6
  • 4
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-80.
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 5
    • 0035856943 scopus 로고    scopus 로고
    • Diabetes mellitus and genetically programmed defects in beta-cell function
    • Bell GI, Polonsky KS. Diabetes mellitus and genetically programmed defects in beta-cell function. Nature 2001;414:788-91.
    • (2001) Nature , vol.414 , pp. 788-791
    • Bell, G.I.1    Polonsky, K.S.2
  • 6
    • 0037300839 scopus 로고    scopus 로고
    • Genetic epidemiology of MODY in the Czech republic: New mutations in the MODY genes HNF-4 alpha, GCK and HNF-1 alpha
    • Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, et al. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4 alpha, GCK and HNF-1 alpha. Diabetologia 2003;46:291-5.
    • (2003) Diabetologia , vol.46 , pp. 291-295
    • Pruhova, S.1    Ek, J.2    Lebl, J.3    Sumnik, Z.4    Saudek, F.5    Andel, M.6
  • 7
    • 0035122350 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-!alpha and glucokinase mutations
    • Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, et al. Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-!alpha and glucokinase mutations. Diabetes 2001;50(Suppl 1):S101-7.
    • (2001) Diabetes , vol.50 , Issue.1 SUPPL.
    • Pearson, E.R.1    Velho, G.2    Clark, P.3    Stride, A.4    Shepherd, M.5    Frayling, T.M.6
  • 8
    • 10544249874 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)
    • Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996;384:455-8.
    • (1996) Nature , vol.384 , pp. 455-458
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3    Menzel, S.4    Furuta, H.5    Vaxillaire, M.6
  • 9
    • 0032880513 scopus 로고    scopus 로고
    • Structural model of human glucokinase in complex with glucose and ATP: Implications for the mutants that cause hypo- and hyperglycemia
    • Mahalingam B, Cuesta-Munoz A, Davis EA, Matschinsky FM, Harrison RW, Weber IT. Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia. Diabetes 1999;48:1698-705.
    • (1999) Diabetes , vol.48 , pp. 1698-1705
    • Mahalingam, B.1    Cuesta-Munoz, A.2    Davis, E.A.3    Matschinsky, F.M.4    Harrison, R.W.5    Weber, I.T.6
  • 12
    • 0030891555 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus
    • Velho G, Froguel P. Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. Diabetes Metab 1997;23(Suppl 2):34-7.
    • (1997) Diabetes Metab , vol.23 , Issue.2 SUPPL. , pp. 34-37
    • Velho, G.1    Froguel, P.2
  • 13
    • 0036049411 scopus 로고    scopus 로고
    • Heterogeneity in young adult onset diabetes: ætiology alters clinical characteristics
    • Owen KR, Shepherd M, Stride A, Ellard S, Hattersley AT. Heterogeneity in young adult onset diabetes: ætiology alters clinical characteristics. Diabet Med 2002;19: 758-61.
    • (2002) Diabet Med , vol.19 , pp. 758-761
    • Owen, K.R.1    Shepherd, M.2    Stride, A.3    Ellard, S.4    Hattersley, A.T.5
  • 14
    • 0036360363 scopus 로고    scopus 로고
    • Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis
    • Sagen JV, Njolstad PR, Sovik O. Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. Diabet Med 2002;19:697-8.
    • (2002) Diabet Med , vol.19 , pp. 697-698
    • Sagen, J.V.1    Njolstad, P.R.2    Sovik, O.3
  • 16
    • 18344376912 scopus 로고    scopus 로고
    • HNF-1 alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community
    • Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, et al. HNF-1 alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci USA 2002;99: 4614-9.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 4614-4619
    • Triggs-Raine, B.L.1    Kirkpatrick, R.D.2    Kelly, S.L.3    Norquay, L.D.4    Cattini, P.A.5    Yamagata, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.