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Volumn 21, Issue 4, 2004, Pages 329-334

Scanning HNF-1α gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees

Author keywords

Hepatocyte nuclear factor gene; Maturity onset diabetes of the young; Polymerase chain reaction single strand conformation polymorphism

Indexed keywords

DNA; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; NUCLEAR FACTOR I; UNCLASSIFIED DRUG;

EID: 3943075030     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (21)
  • 1
    • 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: 971-980.
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 2
    • 10544236911 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
    • Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature, 1996, 384: 458-460.
    • (1996) Nature , vol.384 , pp. 458-460
    • Yamagata, K.1    Furuta, H.2    Oda, N.3
  • 3
    • 0026562918 scopus 로고
    • Nonsense mutation in the glucokinase gene cause early-onset non-insulin-dependent diabetes mellitus
    • Vionnet N, Stoffel M, Takeda J, et al. Nonsense mutation in the glucokinase gene cause early-onset non-insulin-dependent diabetes mellitus. Nature, 1992, 356: 721-722.
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionnet, N.1    Stoffel, M.2    Takeda, J.3
  • 4
    • 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, et al. Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature, 1996, 384: 455-457.
    • (1996) Nature , vol.384 , pp. 455-457
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3
  • 5
    • 0031253820 scopus 로고    scopus 로고
    • Early-onset type-I diabetes mellitus (MODY4) link to IPF I
    • Stoffers DA, Ferrer J, Clarke WL, et al. Early-onset type-I diabetes mellitus (MODY4) link to IPF I. Nat Genet, 1997, 17: 138-139.
    • (1997) Nat Genet , vol.17 , pp. 138-139
    • Stoffers, D.A.1    Ferrer, J.2    Clarke, W.L.3
  • 6
    • 0031453186 scopus 로고    scopus 로고
    • Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY
    • Horikawa Y, Iwasaki N, Hara M, et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet, 1997, 17: 384-385.
    • (1997) Nat Genet , vol.17 , pp. 384-385
    • Horikawa, Y.1    Iwasaki, N.2    Hara, M.3
  • 7
    • 0032700272 scopus 로고    scopus 로고
    • Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
    • Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet, 1999, 23: 323-328.
    • (1999) Nat Genet , vol.23 , pp. 323-328
    • Malecki, M.T.1    Jhala, U.S.2    Antonellis, A.3
  • 8
    • 15144351715 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: Evidence for a mutational hotspot in exon 4
    • Kaisaki PJ, Menzel S, Lindner T, et al. Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes, 1997, 46: 528-535.
    • (1997) Diabetes , vol.46 , pp. 528-535
    • Kaisaki, P.J.1    Menzel, S.2    Lindner, T.3
  • 9
    • 0033752712 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young
    • Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young. Hum Mutat, 2000, 16: 377-385.
    • (2000) Hum Mutat , vol.16 , pp. 377-385
    • Ellard, S.1
  • 10
    • 0031848797 scopus 로고    scopus 로고
    • Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1α is dominant negative
    • Yamagata K, Yang Q, Yamamoto K, et al. Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1α is dominant negative. Diabetes, 1998, 47: 1231-1235.
    • (1998) Diabetes , vol.47 , pp. 1231-1235
    • Yamagata, K.1    Yang, Q.2    Yamamoto, K.3
  • 11
    • 0342905058 scopus 로고    scopus 로고
    • Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients
    • Godart F, Bellanne-Chantelot C, Clauin S, et al. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients. Hum Mutat, 2000, 15: 173-180.
    • (2000) Hum Mutat , vol.15 , pp. 173-180
    • Godart, F.1    Bellanne-Chantelot, C.2    Clauin, S.3
  • 12
    • 15444341853 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
    • Iwasaki N, Oda N, Ogata M, et al. Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes, 1997, 46: 1504-1508.
    • (1997) Diabetes , vol.46 , pp. 1504-1508
    • Iwasaki, N.1    Oda, N.2    Ogata, M.3
  • 13
    • 0032707432 scopus 로고    scopus 로고
    • Molecular genetics of diabetes mellitus in Chinese subjects: Identification of mutations in glucokinase and hepatocyte nuclear factor-1α genes in patients with early-onset type 2 diabetes mellitus/MODY
    • Ng MC, Cockburn BN, Lindner TH, et al. Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1α genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabet Med, 1999, 16: 956-963.
    • (1999) Diabet Med , vol.16 , pp. 956-963
    • Ng, M.C.1    Cockburn, B.N.2    Lindner, T.H.3
  • 14
    • 0034771385 scopus 로고    scopus 로고
    • Early-onset type I diadetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor la and glucokinase
    • Gragnoli C, Cockburn BN, Chiaramonte F, et al. Early-onset type I diadetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor la and glucokinase. Diabetologia, 2001, 44: 1326-1329.
    • (2001) Diabetologia , vol.44 , pp. 1326-1329
    • Gragnoli, C.1    Cockburn, B.N.2    Chiaramonte, F.3
  • 15
    • 14444278300 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K.
    • Frayling TM, Bulamn MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U. K. Diabetes, 1997, 4: 720-725.
    • (1997) Diabetes , vol.4 , pp. 720-725
    • Frayling, T.M.1    Bulamn, M.P.2    Ellard, S.3
  • 16
    • 10244249309 scopus 로고    scopus 로고
    • Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12
    • Byrne MM, Sturis J, Menzel S, et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes, 1996, 45: 1503-1510.
    • (1996) Diabetes , vol.45 , pp. 1503-1510
    • Byrne, M.M.1    Sturis, J.2    Menzel, S.3
  • 17
    • 0035985091 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1α gene in Chinese MODY families: Prevalence and functional analysis
    • Xu JY, Chan V, Zhang WY, et al. Mutations in the hepatocyte nuclear factor-1α gene in Chinese MODY families: prevalence and functional analysis. Diabetologia, 2002, 45: 744-746.
    • (2002) Diabetologia , vol.45 , pp. 744-746
    • Xu, J.Y.1    Chan, V.2    Zhang, W.Y.3
  • 18
    • 3943090535 scopus 로고    scopus 로고
    • Detection of the P291fsinsC hotspot mutation of HNF-1α gene in subjects with early onset diabetes mellitus
    • Xiang KS, Zheng TS, Pu L, et al. Detection of the P291fsinsC hotspot mutation of HNF-1α gene in subjects with early onset diabetes mellitus. Natl Med J China, 1999, 79: 448-449.
    • (1999) Natl Med J China , vol.79 , pp. 448-449
    • Xiang, K.S.1    Zheng, T.S.2    Pu, L.3
  • 19
    • 3943065030 scopus 로고    scopus 로고
    • Type 2 diabetes mellitus and variations in the hepatocyte nuclear factor-1α gene
    • Tang ZY, Ning G, Wang JM, et al. Type 2 diabetes mellitus and variations in the hepatocyte nuclear factor-1α gene. Chin J Endocrinol Metab, 2000, 16: 124.
    • (2000) Chin J Endocrinol Metab , vol.16 , pp. 124
    • Tang, Z.Y.1    Ning, G.2    Wang, J.M.3
  • 20
    • 0035671446 scopus 로고    scopus 로고
    • Mutation in hepatocyte nuclear factor-1α is not a common cause of MODY and early-onset type 2 diabetes in Korea
    • Lee HJ, Ahn CW, Kim SJ, et al. Mutation in hepatocyte nuclear factor-1α is not a common cause of MODY and early-onset type 2 diabetes in Korea. Acta Diabetol, 2001, 38: 123-127.
    • (2001) Acta Diabetol , vol.38 , pp. 123-127
    • Lee, H.J.1    Ahn, C.W.2    Kim, S.J.3
  • 21
    • 44049116183 scopus 로고
    • PCR-SSCP: A method for detection of mutations
    • Hayashi K. PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl, 1992, 9: 73-79.
    • (1992) Genet Anal Tech Appl , vol.9 , pp. 73-79
    • Hayashi, K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.