메뉴 건너뛰기




Volumn 42, Issue 5, 1999, Pages 621-626

Three new mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with diabetes mellitus: Clinical features and functional characterization

Author keywords

Arginine; HNF 1 ; Insulin; MODY; Mutation

Indexed keywords

ARGININE; GLUCAGON; INSULIN; NUCLEAR FACTOR I;

EID: 0032967401     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250051204     Document Type: Article
Times cited : (43)

References (21)
  • 1
    • 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
  • 2
    • 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
  • 3
    • 0030816420 scopus 로고    scopus 로고
    • Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM
    • Yamada S, Nishigori H, Onda H et al. (1997) Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM. Diabetes 46: 1643-1647
    • (1997) Diabetes , vol.46 , pp. 1643-1647
    • Yamada, S.1    Nishigori, H.2    Onda, H.3
  • 4
    • 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. (1998) Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1α is dominant negative. Diabetes 47: 1231-1235
    • (1998) Diabetes , vol.47 , pp. 1231-1235
    • Yamagata, K.1    Yang, Q.2    Yamamoto, K.3
  • 5
    • 0018602014 scopus 로고
    • Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance
    • National Diabetes Data Group (1979) Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes 28: 1039-1057
    • (1979) Diabetes , vol.28 , pp. 1039-1057
  • 6
    • 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, 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, S.2    Linder, T.3
  • 7
    • 0031944313 scopus 로고    scopus 로고
    • Laron dwarfism and non-insulin-dependent diabetes mellitus in the hnf-1α knockout mouse
    • Lee YH, Sauer B, Gonzalez FJ (1998) Laron dwarfism and non-insulin-dependent diabetes mellitus in the hnf-1α knockout mouse. Mol Cell Biol 18: 3059-3068
    • (1998) Mol Cell Biol , vol.18 , pp. 3059-3068
    • Lee, Y.H.1    Sauer, B.2    Gonzalez, F.J.3
  • 8
    • 0021751981 scopus 로고
    • Diminished B cell secretory capacity in patients with non insulin-dependent diabetes mellitus
    • Ward WK, Bolgiano DC, McKnight B, Halter JB, Porte D Jr (1984) Diminished B cell secretory capacity in patients with non insulin-dependent diabetes mellitus. J Clin Invest 74: 1318-1323
    • (1984) J Clin Invest , vol.74 , pp. 1318-1323
    • Ward, W.K.1    Bolgiano, D.C.2    McKnight, B.3    Halter, J.B.4    Porte D., Jr.5
  • 9
    • 0030695028 scopus 로고    scopus 로고
    • Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4α/MODY1 gene
    • Herman WH, Fajans SS, Smith MJ, Polonsky KS, Bell GI, Halter JB (1997) Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4α/MODY1 gene. Diabetes 46: 1749-1754
    • (1997) Diabetes , vol.46 , pp. 1749-1754
    • Herman, W.H.1    Fajans, S.S.2    Smith, M.J.3    Polonsky, K.S.4    Bell, G.I.5    Halter, J.B.6
  • 10
    • 0022723194 scopus 로고
    • The relevance of glucose counterregulatory systems to patients with insulin dependent diabetes mellitus
    • Cryer PE, White NH, Santiago JV (1986) The relevance of glucose counterregulatory systems to patients with insulin dependent diabetes mellitus. Endocrin Rev 7: 131-139
    • (1986) Endocrin Rev , vol.7 , pp. 131-139
    • Cryer, P.E.1    White, N.H.2    Santiago, J.V.3
  • 12
    • 0026555197 scopus 로고
    • A transcriptional hierarchy involved in mammalian cell-type specification
    • Kuo CJ, Conley PB, Chen L, Sladek FM, Darnell JE Jr (1992) A transcriptional hierarchy involved in mammalian cell-type specification. Nature 355: 457-461
    • (1992) Nature , vol.355 , pp. 457-461
    • Kuo, C.J.1    Conley, P.B.2    Chen, L.3    Sladek, F.M.4    Darnell J.E., Jr.5
  • 13
    • 0030848766 scopus 로고    scopus 로고
    • Modulation of hepatic gene expression by hepatocyte nuclear factor 1
    • Ktistaki E, Talianidis L (1997) Modulation of hepatic gene expression by hepatocyte nuclear factor 1. Science 277: 109-112
    • (1997) Science , vol.277 , pp. 109-112
    • Ktistaki, E.1    Talianidis, L.2
  • 14
    • 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. (1996) Mutations in the 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
  • 15
    • 0030818380 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1 alpha 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-1 alpha 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
  • 16
    • 0030798412 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha 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-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 46: 1648-1651
    • (1997) Diabetes , vol.46 , pp. 1648-1651
    • Gragnoli, C.1    Lindner, T.2    Cockburn, B.N.3
  • 17
    • 0030780380 scopus 로고    scopus 로고
    • An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young)
    • Boutin P, Chevre JC, Hani ET et al. (1997) An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young). Diabetes 46: 2108-2109
    • (1997) Diabetes , vol.46 , pp. 2108-2109
    • Boutin, P.1    Chevre, J.C.2    Hani, E.T.3
  • 18
    • 0031760142 scopus 로고    scopus 로고
    • Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: Evidence for novel mutations in exons 8 and 10
    • Elbein SC, Teng K, Yount P, Scroggin E (1998) Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10. J Clin Endocrinol Metab 83: 2059-2065
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2059-2065
    • Elbein, S.C.1    Teng, K.2    Yount, P.3    Scroggin, E.4
  • 19
    • 15144347575 scopus 로고    scopus 로고
    • Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
    • Chevre JC, Hani EH, Boutin P et al. (1998) Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 41: 1017-1023
    • (1998) Diabetologia , vol.41 , pp. 1017-1023
    • Chevre, J.C.1    Hani, E.H.2    Boutin, P.3
  • 20
    • 17444442387 scopus 로고    scopus 로고
    • A novel mis-sense mutation in the homeodomain of the hepatocyte nuclear factor-1alpha/maturity-onset diabetes of the young 3 in a Japanese early-onset type 2 diabetic patient and time-course of glucose-stimulated insulin secretion
    • Awata T, Kurihara S, Inoue K et al. (1998) A novel mis-sense mutation in the homeodomain of the hepatocyte nuclear factor-1alpha/maturity-onset diabetes of the young 3 in a Japanese early-onset type 2 diabetic patient and time-course of glucose-stimulated insulin secretion. Diabetes Care 21: 1569-1571
    • (1998) Diabetes Care , vol.21 , pp. 1569-1571
    • Awata, T.1    Kurihara, S.2    Inoue, K.3
  • 21
    • 0031859904 scopus 로고    scopus 로고
    • Hepatocyte nuclear factor /alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews
    • Behn PS, Wasson J, Chayen S et al. (1998) Hepatocyte nuclear factor /alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews. Diabetes 47: 967-969
    • (1998) Diabetes , vol.47 , pp. 967-969
    • Behn, P.S.1    Wasson, J.2    Chayen, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.