메뉴 건너뛰기




Volumn 2, Issue 2, 1992, Pages 153-156

Missense glucokinase mutation in maturity–onset diabetes of the young and mutation screening in late–onset diabetes

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOKINASE;

EID: 0026937234     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1092-153     Document Type: Article
Times cited : (124)

References (20)
  • 2
    • 0023680267 scopus 로고
    • Type 2 (non-insulin dependent) diabetes mellitus: New genetics for old nightmares
    • O'Rahilly, S., Wainscoat, J. S. & Turner, R. C. Type 2 (non-insulin dependent) diabetes mellitus: new genetics for old nightmares. Diabetologia 31, 407-414(1988).
    • (1988) Diabetologia , vol.31 , pp. 407-414
    • O'Rahilly, S.1    Wainscoat, J.S.2    Turner, R.C.3
  • 3
    • 0026608764 scopus 로고
    • The glucokinase locus on chromosome 7p is closely linked to early onset non-insulin-dependent diabetes mellitus
    • Froguel, P. et al. The glucokinase locus on chromosome 7p is closely linked to early onset non-insulin-dependent diabetes mellitus. Nature 356, 162-164(1992).
    • (1992) Nature , vol.356 , pp. 162-164
    • Froguel, P.1
  • 4
    • 0026583193 scopus 로고
    • Type 2 diabetes is linked to the glucokinase gene in a large pedigree
    • Hattersley, A. T. et al. Type 2 diabetes is linked to the glucokinase gene in a large pedigree. Lancet 339, 1307-1310 (1992).
    • (1992) Lancet , vol.339 , pp. 1307-1310
    • Hattersley, A.T.1
  • 5
    • 0026562918 scopus 로고
    • Nonsense mutation in the glucokinase gene causes eariy-ons6t non-insulin-dependent diabetes
    • Vionnet, N. et al. Nonsense mutation in the glucokinase gene causes eariy-ons6t non-insulin-dependent diabetes. Nature 356, 721-722 (1992).
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionnet, N.1
  • 6
    • 0021247064 scopus 로고
    • New perspectives on pancreatic islet glucokinase
    • Meglasson, M. D. & Matschinsky, F. M. New perspectives on pancreatic islet glucokinase. Am. J. Physiol. 246, E1-E13 (1984).
    • (1984) Am. J. Physiol , vol.246 , pp. E1-E13
    • Meglasson, M.D.1    Matschinsky, F.M.2
  • 7
    • 84970050118 scopus 로고    scopus 로고
    • Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (Type 2) diabetes mellitus
    • (in the press)
    • Stoffel, M. et al. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (Type 2) diabetes mellitus. Proc. natn Acad. Sci. U. S. A. (in the press).
    • Proc. natn Acad. Sci. U.S.A
    • Stoffel, M.1
  • 8
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879 (1989).
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 9
    • 0017681196 scopus 로고
    • & Coulson, A.R. DNA sequencing with chain-terminating inhibitors
    • Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc. natn. Acad. Sci. U. S. A. 74, 5463-5467 (1977).
    • (1977) Proc. natn. Acad. Sci. U.S.A , vol.74 , pp. 5463-5467
    • Sanger, F.1    Nicklen, S.2
  • 10
    • 0021344005 scopus 로고
    • Easy calculation of LOD scores and genetic risks on small computers
    • Lathrop, G. M. & Ireland, J. M. Easy calculation of LOD scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460-465 (1985).
    • (1985) Am. J. hum. Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Ireland, J.M.2
  • 11
    • 0025833955 scopus 로고
    • Study design, progress and performance
    • UK Prospective Diabetes Study Group. UK Prospective Diabetes Study (UKPDS) VIII. Study design, progress and performance. Diabetologia 34, 877-890 (1991).
    • (1991) Diabetologia , vol.34 , pp. 877-890
  • 12
    • 0024399457 scopus 로고
    • Analysis of the HepG2/ erythrocyte glucose transporter locus in a family with Type 2 (non-insulin-dependent) diabetes and obesity
    • O'Rahilly, S., Patel, P., Wainscoat, J. S. &Tumer, R. C. Analysis of the HepG2/ erythrocyte glucose transporter locus in a family with Type 2 (non-insulin-dependent) diabetes and obesity. Diabetologia 32, 266-269 (1989).
    • (1989) Diabetologia , vol.32 , pp. 266-269
    • O'Rahilly, S.1    Patel, P.2    Wainscoat, J.S.3    Tumer, R.C.4
  • 13
    • 0026032055 scopus 로고
    • Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q
    • Bell G.L. et al. Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc. natrí. Acad. Sci. U. S. A. 88, 1484-1488 (1991).
    • (1991) Proc. natrí. Acad. Sci. U.S.A , vol.88 , pp. 1484-1488
    • Bell, G.L.1
  • 14
    • 0024260823 scopus 로고
    • Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young
    • O'Rahilly, S. et a I. Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young. Diabetologia 31, 792-797 (1988).
    • (1988) Diabetologia , vol.31 , pp. 792-797
    • O'Rahilly, S.1
  • 16
    • 0025773195 scopus 로고
    • Human liver glucokinase gene: Cloning and sequence determination of two alternatively spliced cDNAs
    • Tanizawa, Y., Koranyi, LI., Welling, C. M. & Permutt, M. A. Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs. Proc. natn. Acad. Sci. U. S. A. 88, 7294-7297 (1991).
    • (1991) Proc. natn. Acad. Sci. U.S.A , vol.88 , pp. 7294-7297
    • Tanizawa, Y.1    Koranyi, L.I.2    Welling, C.M.3    Permutt, M.A.4
  • 17
    • 0024202709 scopus 로고
    • Human hexokinase: Sequences of amino-and carboxyl-terminal halves are homologous
    • Nishi, S., Seino, S. & Bell, G. l. Human hexokinase: sequences of amino-and carboxyl-terminal halves are homologous. Biochem. Biophys. Res. Commun. 157, 937-943 (1988).
    • (1988) Biochem. Biophys. Res. Commun , vol.157 , pp. 937-943
    • Nishi, S.1    Seino, S.2    Bell, G.3
  • 18
    • 0025218127 scopus 로고
    • Glucose phosphorylation in tumor cells: Cloning, sequence, and overexpression in active form of a full-length cDNA encoding a mitochondrial bindable form of hexokinase. J
    • Arora, K. K., Fanciulli, M. & Pedersen, P. L. Glucose phosphorylation in tumor cells: cloning, sequence, and overexpression in active form of a full-length cDNA encoding a mitochondrial bindable form of hexokinase. J. biol. Chem. 265, 6481-6488 (1990).
    • (1990) Biol. Chem , vol.265 , pp. 6481-6488
    • Arora, K.K.1    Fanciulli, M.2    Pedersen, P.L.3
  • 19
    • 0025057199 scopus 로고
    • Scope and heterogeneous nature of MODY
    • Fajans, S. S. Scope and heterogeneous nature of MODY. Diabetes Care 13, 49-64(1990).
    • (1990) Diabetes Care , vol.13 , pp. 49-64
    • Fajans, S.S.1
  • 20
    • 0026606711 scopus 로고
    • Analysis of complex genetic systems by ARMS-SSCP: Application to HLA genotyping
    • Lo, Y-M. D. et al. Analysis of complex genetic systems by ARMS-SSCP: application to HLA genotyping. Nucl. Acids. Res. 20, 1005-1009 (1992).
    • (1992) Nucl. Acids. Res , vol.20 , pp. 1005-1009
    • Lo, Y.-M.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.