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Volumn 83, Issue 3, 2009, Pages

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype

Author keywords

GCK; HNF1A; MODY; Mutation

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA;

EID: 59349087713     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2008.12.007     Document Type: Article
Times cited : (9)

References (16)
  • 1
    • 0034809513 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization
    • Owen K., and Hattersley A.T. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract. Res. Clin. Endocrinol. Metab. 15 (2001) 309-323
    • (2001) Best Pract. Res. Clin. Endocrinol. Metab. , vol.15 , pp. 309-323
    • Owen, K.1    Hattersley, A.T.2
  • 2
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans S.S., Bell G.I., and Polonsky K.S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med. 345 (2001) 971-980
    • (2001) N. Engl. J. Med. , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 3
    • 33846007241 scopus 로고    scopus 로고
    • Diagnosis and classification of diabetes mellitus
    • American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 30 (2007) 42-47
    • (2007) Diabetes Care , vol.30 , pp. 42-47
    • American Diabetes Association1
  • 4
    • 0034847721 scopus 로고    scopus 로고
    • Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?
    • Boutin P., Vasseur F., Samson C., Wahl C., and Froguel P. Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?. Diabetologia 44 (2001) 775-778
    • (2001) Diabetologia , vol.44 , pp. 775-778
    • Boutin, P.1    Vasseur, F.2    Samson, C.3    Wahl, C.4    Froguel, P.5
  • 5
    • 0021688283 scopus 로고
    • Use of cyclosporin a in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
    • Anderson M.A., and Gusella J.F. Use of cyclosporin a in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro Cell. Dev. Biol. Plant 20 (1984) 856-858
    • (1984) In Vitro Cell. Dev. Biol. Plant , vol.20 , pp. 856-858
    • Anderson, M.A.1    Gusella, J.F.2
  • 6
    • 23844518966 scopus 로고    scopus 로고
    • Half of clinically defined Maturity-Onset Diabetes of the Young patients in Denmark do not have mutations in HNF4a, GCK, and TCF1
    • Johansen A., Ek J., Mortensen H.B., Pedersen O., and Hansen T. Half of clinically defined Maturity-Onset Diabetes of the Young patients in Denmark do not have mutations in HNF4a, GCK, and TCF1. J. Clin. Endocrinol. Metab. 90 (2005) 4607-4614
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 4607-4614
    • Johansen, A.1    Ek, J.2    Mortensen, H.B.3    Pedersen, O.4    Hansen, T.5
  • 7
    • 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 E.A., Matschinsky F.M., Harrison R.W., and Weber I.T. Structural model of human glucokinase in complex with glucose and ATP implications for the mutants that cause hypo- and hyperglycemia. Diabetes 48 (1999) 1698-1705
    • (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
  • 8
    • 15144347575 scopus 로고    scopus 로고
    • Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
    • Chèvre J.C., Hani E.H., Boutin P., Vaxillaire M., Blanchè H., Vionnet N., et al. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 41 (1998) 1017-1023
    • (1998) Diabetologia , vol.41 , pp. 1017-1023
    • Chèvre, J.C.1    Hani, E.H.2    Boutin, P.3    Vaxillaire, M.4    Blanchè, H.5    Vionnet, N.6
  • 9
    • 15144351715 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4
    • Kaisaki P.J., Menzel S., Lindner T., Oda N., Rjasanowski I., Sahm J., et al. Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 46 (1997) 528-535
    • (1997) Diabetes , vol.46 , pp. 528-535
    • Kaisaki, P.J.1    Menzel, S.2    Lindner, T.3    Oda, N.4    Rjasanowski, I.5    Sahm, J.6
  • 10
    • 0842331556 scopus 로고    scopus 로고
    • Messenger RNA transcripts of the hepatocyte nuclear factor-1α gene containing premature termination codons are subject to nonsense-mediated decay
    • Harries L.W., Hattersley A.T., and Ellard S. Messenger RNA transcripts of the hepatocyte nuclear factor-1α gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes 53 (2004) 500-504
    • (2004) Diabetes , vol.53 , pp. 500-504
    • Harries, L.W.1    Hattersley, A.T.2    Ellard, S.3
  • 11
    • 0036033726 scopus 로고    scopus 로고
    • Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young
    • Bulman M.P., Harries L.W., Hansen T., Shepherd M., Kelly W.F., Hattersley A.T., et al. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia 45 (2002) 1463-1467
    • (2002) Diabetologia , vol.45 , pp. 1463-1467
    • Bulman, M.P.1    Harries, L.W.2    Hansen, T.3    Shepherd, M.4    Kelly, W.F.5    Hattersley, A.T.6
  • 12
    • 33745597077 scopus 로고    scopus 로고
    • Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes
    • Harries L.W., Ellard S., Stride A., Morgan N.G., and Hattersley A.T. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum. Mol. Genet. 15 (2006) 2216-2224
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 2216-2224
    • Harries, L.W.1    Ellard, S.2    Stride, A.3    Morgan, N.G.4    Hattersley, A.T.5
  • 13
    • 40749151157 scopus 로고    scopus 로고
    • The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3
    • Bellanné-Chantelot C., Carette C., Riveline J.P., Valero R., Gautier J.F., Larger E., et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 57 (2008) 503-508
    • (2008) Diabetes , vol.57 , pp. 503-508
    • Bellanné-Chantelot, C.1    Carette, C.2    Riveline, J.P.3    Valero, R.4    Gautier, J.F.5    Larger, E.6
  • 14
    • 0242333673 scopus 로고    scopus 로고
    • Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young
    • Mantovani V., Salardi S., Cerreta V., Bastia D., Cenci M., Ragni L., et al. Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Hum. Mutat. 22 (2003) 338
    • (2003) Hum. Mutat. , vol.22 , pp. 338
    • Mantovani, V.1    Salardi, S.2    Cerreta, V.3    Bastia, D.4    Cenci, M.5    Ragni, L.6
  • 15
    • 0034947265 scopus 로고    scopus 로고
    • High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI
    • Massa O., Meschi F., Cuesta-Munoz A., Caumo A., Cerutti F., Toni S., et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetologia 44 (2001) 898-905
    • (2001) Diabetologia , vol.44 , pp. 898-905
    • Massa, O.1    Meschi, F.2    Cuesta-Munoz, A.3    Caumo, A.4    Cerutti, F.5    Toni, S.6
  • 16
    • 41149084500 scopus 로고    scopus 로고
    • Clinical implications of a molecular genetic classification of monogenic β-cell diabetes, Nature Clinical Practice
    • Murphy R., Ellard S., and Hattersley A.T. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes, Nature Clinical Practice. Endocrinol. Metab. 4 (2008) 200-213
    • (2008) Endocrinol. Metab. , vol.4 , pp. 200-213
    • Murphy, R.1    Ellard, S.2    Hattersley, A.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.