메뉴 건너뛰기




Volumn 83, Issue 6, 1998, Pages 2059-2065

Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1α gene in typical familial type 2 diabetes: Evidence for novel mutations in exons 8 and 10

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I;

EID: 0031760142     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.6.2059     Document Type: Article
Times cited : (27)

References (40)
  • 1
    • 0025094344 scopus 로고
    • Mapping genes in diabetes: Genetic epidemiological perspective
    • Rich SS. 1990 Mapping genes in diabetes: genetic epidemiological perspective. Diabetes. 39:1315-1319.
    • (1990) Diabetes , vol.39 , pp. 1315-1319
    • Rich, S.S.1
  • 2
    • 0346144568 scopus 로고    scopus 로고
    • Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus
    • Hani EH, Zouali H, Philippi A, et al. 1996 Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus. Diabetes Metab. 22:451-454.
    • (1996) Diabetes Metab. , vol.22 , pp. 451-454
    • Hani, E.H.1    Zouali, H.2    Philippi, A.3
  • 3
    • 16044374799 scopus 로고    scopus 로고
    • Mapping a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families
    • Mahtani MM, Widen E, Lehto M, et al. 1996 Mapping a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet. 14:90-94.
    • (1996) Nat Genet. , vol.14 , pp. 90-94
    • Mahtani, M.M.1    Widen, E.2    Lehto, M.3
  • 4
    • 4244044294 scopus 로고    scopus 로고
    • Multipoint linkage analysis of NIDDM in 534 Finnish families in the FUSION study
    • Ghosh S, Hauser ER, Magnuson VL, et al. 1997 Multipoint linkage analysis of NIDDM in 534 Finnish families in the FUSION study. Diabetes. 46(Suppl 1):76A.
    • (1997) Diabetes , vol.46 , Issue.1 SUPPL.
    • Ghosh, S.1    Hauser, E.R.2    Magnuson, V.L.3
  • 5
    • 0027472126 scopus 로고
    • Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
    • Froguel F, Zouali H, Vionnet N, et al. 1993 Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus [see comments]. N Engl J Med. 328:697-702.
    • (1993) N Engl J Med. , vol.328 , pp. 697-702
    • Froguel, F.1    Zouali, H.2    Vionnet, N.3
  • 6
    • 10544249874 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor 1α gene in maturity-onset diabetes of the young (MODY3)
    • Yamagata K, Oda N, Kaisaki PJ, et al. 1996 Mutations in the hepatocyte nuclear factor 1α gene in maturity-onset diabetes of the young (MODY3). Nature. 384:455-458.
    • (1996) Nature , vol.384 , pp. 455-458
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3
  • 7
    • 10544236911 scopus 로고    scopus 로고
    • Mutations in hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
    • Yamagata K, Furuta H, Oda N, et al. 1996 Mutations in hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature. 384:458-460.
    • (1996) Nature , vol.384 , pp. 458-460
    • Yamagata, K.1    Furuta, H.2    Oda, N.3
  • 8
    • 0028353674 scopus 로고
    • Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinse mutations
    • Byrne MM, Sturis J, Clement K, et al. 1994 Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinse mutations. J Clin Invest. 93:1120-1130.
    • (1994) J Clin Invest. , vol.93 , pp. 1120-1130
    • Byrne, M.M.1    Sturis, J.2    Clement, K.3
  • 9
    • 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. 1996 Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 45:1503-1510.
    • (1996) Diabetes , vol.45 , pp. 1503-1510
    • Byrne, M.M.1    Sturis, J.2    Menzel, S.3
  • 10
    • 0030596338 scopus 로고    scopus 로고
    • Non-insulin-dependent diabetes mellitus-a genetically programmed failure of the β cell to compensate for insulin resistance
    • Polonsky KS, Sturis J, Bell GI. 1996 Non-insulin-dependent diabetes mellitus-a genetically programmed failure of the β cell to compensate for insulin resistance. N Engl J Med. 334:777-783.
    • (1996) N Engl J Med. , vol.334 , pp. 777-783
    • Polonsky, K.S.1    Sturis, J.2    Bell, G.I.3
  • 11
    • 0028907342 scopus 로고
    • A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
    • Vaxillaire M, Boccio V, Philippi A, et al. 1995 A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet. 9:418-423.
    • (1995) Nat Genet. , vol.9 , pp. 418-423
    • Vaxillaire, M.1    Boccio, V.2    Philippi, A.3
  • 12
    • 0027305648 scopus 로고
    • Linkage analysis and molecular scanning of glucokinase gene in NIDDM families
    • Zouali H, Vaxillaire M, Lesage S, et al. 1993 Linkage analysis and molecular scanning of glucokinase gene in NIDDM families. Diabetes. 42:1238-1245.
    • (1993) Diabetes , vol.42 , pp. 1238-1245
    • Zouali, H.1    Vaxillaire, M.2    Lesage, S.3
  • 13
    • 0027390345 scopus 로고
    • Linkage analysis of the glucokinase locus in familial type 2 (non-insulin-dependent) diabetic pedigrees
    • Elbein SC, Hoffman M, Chiu K, Tanizawa Y, Permutt MA. 1993 Linkage analysis of the glucokinase locus in familial type 2 (non-insulin-dependent) diabetic pedigrees. Diabetologia. 36:141-145.
    • (1993) Diabetologia , vol.36 , pp. 141-145
    • Elbein, S.C.1    Hoffman, M.2    Chiu, K.3    Tanizawa, Y.4    Permutt, M.A.5
  • 15
    • 0000309667 scopus 로고    scopus 로고
    • Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY
    • Furuta H, Iwasaki N, Oda N, et al. 1997 Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. Diabetes. 46:1652-1657.
    • (1997) Diabetes , vol.46 , pp. 1652-1657
    • Furuta, H.1    Iwasaki, N.2    Oda, N.3
  • 16
    • 0030779004 scopus 로고    scopus 로고
    • Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4α/MODY1 gene
    • Lindner T, Gragnoli T, Furuta H, et al. 1997 Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4α/MODY1 gene. J Clin Invest. 100:1400-1405.
    • (1997) J Clin Invest. , vol.100 , pp. 1400-1405
    • Lindner, T.1    Gragnoli, T.2    Furuta, H.3
  • 17
    • 0030897631 scopus 로고    scopus 로고
    • Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy
    • Bowden DW, Sale M, Howard TD, et al. 1997 Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes. 46:882-886.
    • (1997) Diabetes , vol.46 , pp. 882-886
    • Bowden, D.W.1    Sale, M.2    Howard, T.D.3
  • 18
  • 19
    • 0029029955 scopus 로고
    • Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM
    • Lesage S, Hani EH, Philippi A, et al. 1995 Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. Diabetes. 44:1243-1247.
    • (1995) Diabetes , vol.44 , pp. 1243-1247
    • Lesage, S.1    Hani, E.H.2    Philippi, A.3
  • 20
    • 9044243415 scopus 로고    scopus 로고
    • A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2
    • Hanis CL, Boerwinkle E, Chakraborty R, et al. 1996 A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet. 13:161-166.
    • (1996) Nat Genet. , vol.13 , pp. 161-166
    • Hanis, C.L.1    Boerwinkle, E.2    Chakraborty, R.3
  • 21
    • 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 R, Linder T, et al. 1997 Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 46:528-535.
    • (1997) Diabetes , vol.46 , pp. 528-535
    • Kaisaki, P.J.1    Menzel, R.2    Linder, T.3
  • 22
    • 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, Bulman MP, Ellard S, et al. 1997 Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity onset diabetes of the young in the U.K. Diabetes. 46:720-725.
    • (1997) Diabetes , vol.46 , pp. 720-725
    • Frayling, T.M.1    Bulman, M.P.2    Ellard, S.3
  • 23
    • 0030798412 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene
    • Gragnoli C, Lindner T, Cockburn BN, et al. 1997 Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene. Diabetes. 46:1648-1651.
    • (1997) Diabetes , vol.46 , pp. 1648-1651
    • Gragnoli, C.1    Lindner, T.2    Cockburn, B.N.3
  • 24
    • 0031007206 scopus 로고    scopus 로고
    • Novel mutations and a mutational hotspot in the MODY3 gene
    • Glucksmann MA, Lehto M, Tayber O, et al. 1997 Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes. 46:1081-1086.
    • (1997) Diabetes , vol.46 , pp. 1081-1086
    • Glucksmann, M.A.1    Lehto, M.2    Tayber, O.3
  • 25
    • 0030029606 scopus 로고    scopus 로고
    • Linkage studies of NIDDM with 23 chromosome 11 markers in a sample of whites of Northern European descent
    • Elbein SC, Bragg KL, Hoffman MD, Mayorga RA, Leppert ML. 1996 Linkage studies of NIDDM with 23 chromosome 11 markers in a sample of whites of Northern European descent. Diabetes. 45:370-375.
    • (1996) Diabetes , vol.45 , pp. 370-375
    • Elbein, S.C.1    Bragg, K.L.2    Hoffman, M.D.3    Mayorga, R.A.4    Leppert, M.L.5
  • 26
    • 0031017140 scopus 로고    scopus 로고
    • Do NIDDM and IDDM share genetic susceptibility loci? An analysis of putative IDDM susceptibility regions in familial NIDDM
    • Elbein SC, Hoffman MD, Mayorga RA, Barrett KL, Leppert M, Hasstedt S. 1997 Do NIDDM and IDDM share genetic susceptibility loci? An analysis of putative IDDM susceptibility regions in familial NIDDM. Metabolism. 46:48-52.
    • (1997) Metabolism , vol.46 , pp. 48-52
    • Elbein, S.C.1    Hoffman, M.D.2    Mayorga, R.A.3    Barrett, K.L.4    Leppert, M.5    Hasstedt, S.6
  • 27
    • 0022365713 scopus 로고
    • International criteria for the diagnosis of diabetes and impaired glucose tolerance
    • Harris MI, Hadden WC, Knowler WC, Bennett PH. 1985 International criteria for the diagnosis of diabetes and impaired glucose tolerance. Diabetes Care. 8:562-567.
    • (1985) Diabetes Care , vol.8 , pp. 562-567
    • Harris, M.I.1    Hadden, W.C.2    Knowler, W.C.3    Bennett, P.H.4
  • 28
    • 0028231090 scopus 로고
    • The 1993-94 Genethon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. 1994 The 1993-94 Genethon human genetic linkage map. Nat Genet. 7:246-249.
    • (1994) Nat Genet. , vol.7 , pp. 246-249
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 29
    • 0028848246 scopus 로고
    • Localization of MODY3 to a 5-cM region of human chromosome 12
    • Menzel S, Yamagata K, Trabb JB, et al. 1995 Localization of MODY3 to a 5-cM region of human chromosome 12. Diabetes. 44:1408-1413.
    • (1995) Diabetes , vol.44 , pp. 1408-1413
    • Menzel, S.1    Yamagata, K.2    Trabb, J.B.3
  • 30
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 31
    • 0027962366 scopus 로고
    • Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families
    • Elbein SC, Yeager C, Kwong LK, et al. 1994 Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab. 79:1450-1456.
    • (1994) J Clin Endocrinol Metab. , vol.79 , pp. 1450-1456
    • Elbein, S.C.1    Yeager, C.2    Kwong, L.K.3
  • 32
    • 0028097646 scopus 로고
    • Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus
    • Elbein SC, Hoffman M, Qin H, Chiu K, Tanizawa Y, Permutt MA. 1994 Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia. 37:182-187.
    • (1994) Diabetologia , vol.37 , pp. 182-187
    • Elbein, S.C.1    Hoffman, M.2    Qin, H.3    Chiu, K.4    Tanizawa, Y.5    Permutt, M.A.6
  • 33
    • 0030818380 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects
    • Yamada S, Nishigori H, Onda H, et al. 1997 Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects. Diabetes. 46:1512-1513.
    • (1997) Diabetes , vol.46 , pp. 1512-1513
    • Yamada, S.1    Nishigori, H.2    Onda, H.3
  • 34
    • 8244219694 scopus 로고    scopus 로고
    • Identification of nine novel mutations in the hepatocyte nuclear factor 1α gene associated with maturity-onset diabetes of the young (MODY3)
    • Vaxillaire M, Rouard M, Yamagata K, et al. 1997 Identification of nine novel mutations in the hepatocyte nuclear factor 1α gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. 6:583-586.
    • (1997) Hum Mol Genet. , vol.6 , pp. 583-586
    • Vaxillaire, M.1    Rouard, M.2    Yamagata, K.3
  • 35
    • 15444352146 scopus 로고    scopus 로고
    • Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: Evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation
    • Hansen T, Eiberg H, Rouard M, et al. 1997 Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes. 46:726-730.
    • (1997) Diabetes , vol.46 , pp. 726-730
    • Hansen, T.1    Eiberg, H.2    Rouard, M.3
  • 36
    • 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. 1997 Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 46:1504-1508.
    • (1997) Diabetes , vol.46 , pp. 1504-1508
    • Iwasaki, N.1    Oda, N.2    Ogata, M.3
  • 37
    • 0030943465 scopus 로고    scopus 로고
    • A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1α gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge
    • Urhammer SA, Fridberg M, Hansen T, et al. 1997 A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1α gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge. Diabetes. 46:912-916.
    • (1997) Diabetes , vol.46 , pp. 912-916
    • Urhammer, S.A.1    Fridberg, M.2    Hansen, T.3
  • 38
    • 0026600684 scopus 로고
    • Linkage analysis of maturity-onset diabetes of the young (MODY): Genetic heterogeneity and non-penetrance
    • Bowden DW, Akots G, Rothschild CB, et al. 1992 Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and non-penetrance. Am J Hum Genet. 50:607-618.
    • (1992) Am J Hum Genet. , vol.50 , pp. 607-618
    • Bowden, D.W.1    Akots, G.2    Rothschild, C.B.3
  • 39
    • 0031253820 scopus 로고    scopus 로고
    • Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
    • Stoffers DA, Ferrer J, Clarke WL, Habener JF. 1997 Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 17:138-139.
    • (1997) Nat Genet. , vol.17 , pp. 138-139
    • Stoffers, D.A.1    Ferrer, J.2    Clarke, W.L.3    Habener, J.F.4
  • 40
    • 0029907562 scopus 로고    scopus 로고
    • Association of the insulin receptor variant Met-985 with hyperglycemia and non-insulin dependent diabetes mellitus in the Netherlands: A population-based study
    • 't Hart LM, Stolk RP, Heine RJ, Grobbee DE, van der Does FEE, Maassen JA. 1996 Association of the insulin receptor variant Met-985 with hyperglycemia and non-insulin dependent diabetes mellitus in The Netherlands: a population-based study. Am J Hum Genet. 59:1119-1125.
    • (1996) Am J Hum Genet. , vol.59 , pp. 1119-1125
    • 'T Hart, L.M.1    Stolk, R.P.2    Heine, R.J.3    Grobbee, D.E.4    Van Der Does, F.E.E.5    Maassen, J.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.