메뉴 건너뛰기




Volumn 11, Issue 8, 2010, Pages 529-535

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: Geographically restricted distribution of two prevalent GCK mutations

Author keywords

DHPLC; Diabetes; Founder effect; GCK MODY; Glucokinase

Indexed keywords

GLUCOKINASE; INSULIN; ORAL ANTIDIABETIC AGENT;

EID: 78649803027     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2010.00646.x     Document Type: Article
Times cited : (56)

References (25)
  • 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
  • 3
    • 34548702640 scopus 로고    scopus 로고
    • Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain
    • Estalella I, Rica I, Perez de Nanclares G et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol (Oxf) 2007: 67: 538-546.
    • (2007) Clin Endocrinol (Oxf) , vol.67 , pp. 538-546
    • Estalella, I.1    Rica, I.2    Perez de Nanclares, G.3
  • 5
    • 21444456328 scopus 로고    scopus 로고
    • Genetic and clinical characteristics of maturity-onset diabetes of the young
    • Giuffrida FM, Reis AF. Genetic and clinical characteristics of maturity-onset diabetes of the young. Diabetes Obes Metab 2005: 7: 318-326.
    • (2005) Diabetes Obes Metab , vol.7 , pp. 318-326
    • Giuffrida, F.M.1    Reis, A.F.2
  • 6
    • 0037300839 scopus 로고    scopus 로고
    • Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha
    • Pruhova S, Ek J, Lebl J et al. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia 2003: 46: 291-295.
    • (2003) Diabetologia , vol.46 , pp. 291-295
    • Pruhova, S.1    Ek, J.2    Lebl, J.3
  • 7
    • 77953446523 scopus 로고    scopus 로고
    • The human gene mutation database: 2008 update
    • Stenson PD, Mort M, Ball EV et al. The human gene mutation database: 2008 update. Genome Med 2009: 1: 13.
    • (2009) Genome Med , vol.1 , pp. 13
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3
  • 8
    • 70350741368 scopus 로고    scopus 로고
    • Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
    • Osbak KK, Colclough K, Saint-Martin C et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009: 30: 1512-1526.
    • (2009) Hum Mutat , vol.30 , pp. 1512-1526
    • Osbak, K.K.1    Colclough, K.2    Saint-Martin, C.3
  • 9
    • 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, 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 2001: 44: 775-778.
    • (2001) Diabetologia , vol.44 , pp. 775-778
    • Boutin, P.1    Vasseur, F.2    Samson, C.3    Wahl, C.4    Froguel, P.5
  • 10
    • 33845524419 scopus 로고    scopus 로고
    • Six novel mutations in the GCK gene in MODY patients
    • Pinterova D, Ek J, Kolostova K et al. Six novel mutations in the GCK gene in MODY patients. Clin Genet 2007: 71: 95-96.
    • (2007) Clin Genet , vol.71 , pp. 95-96
    • Pinterova, D.1    Ek, J.2    Kolostova, K.3
  • 11
    • 41149139275 scopus 로고    scopus 로고
    • Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
    • Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008: 51: 546-553.
    • (2008) Diabetologia , vol.51 , pp. 546-553
    • Ellard, S.1    Bellanne-Chantelot, C.2    Hattersley, A.T.3
  • 12
    • 70349658847 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families
    • Lorini R, Klersy C, D'Annunzio G et al. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care 2009: 32: 1864-1866.
    • (2009) Diabetes Care , vol.32 , pp. 1864-1866
    • Lorini, R.1    Klersy, C.2    D'Annunzio, G.3
  • 13
    • 65549131516 scopus 로고    scopus 로고
    • Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database
    • Schober E, Rami B, Grabert M et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med 2009: 26: 466-473.
    • (2009) Diabet Med , vol.26 , pp. 466-473
    • Schober, E.1    Rami, B.2    Grabert, M.3
  • 14
    • 8044260804 scopus 로고    scopus 로고
    • Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
    • Velho G, Blanche H, Vaxillaire M et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997: 40: 217-224.
    • (1997) Diabetologia , vol.40 , pp. 217-224
    • Velho, G.1    Blanche, H.2    Vaxillaire, M.3
  • 15
    • 0034833668 scopus 로고    scopus 로고
    • Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes
    • Moises RS, Reis AF, Morel V et al. Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. Diabetes Care 2001: 24: 786-788.
    • (2001) Diabetes Care , vol.24 , pp. 786-788
    • Moises, R.S.1    Reis, A.F.2    Morel, V.3
  • 16
    • 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.
    • Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP).
    • Massa O, Meschi F, Cuesta-Munoz A et al. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetologia 2001: 44: 898-905.
    • (2001) Diabetologia , vol.44 , pp. 898-905
    • Massa, O.1    Meschi, F.2    Cuesta-Munoz, A.3
  • 17
    • 0028327733 scopus 로고
    • Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique
    • Hager J, Blanche H, Sun F et al. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes 1994: 43: 730-733.
    • (1994) Diabetes , vol.43 , pp. 730-733
    • Hager, J.1    Blanche, H.2    Sun, F.3
  • 18
    • 0032707432 scopus 로고    scopus 로고
    • Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha 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-1alpha 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
  • 19
    • 34848817769 scopus 로고    scopus 로고
    • Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
    • Ellard S, Thomas K, Edghill EL et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007: 50: 2313-2317.
    • (2007) Diabetologia , vol.50 , pp. 2313-2317
    • Ellard, S.1    Thomas, K.2    Edghill, E.L.3
  • 20
    • 43949103781 scopus 로고    scopus 로고
    • Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
    • Garin I, Rica I, Estalella I et al. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. Clin Endocrinol (Oxf) 2008: 68: 873-878.
    • (2008) Clin Endocrinol (Oxf) , vol.68 , pp. 873-878
    • Garin, I.1    Rica, I.2    Estalella, I.3
  • 21
    • 45849135581 scopus 로고    scopus 로고
    • Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations
    • Lukasova P, Vcelak J, Vankova M, Vejrazkova D, Andelova K, Bendlova B. Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations. Physiol Res 2008: 57 (Suppl. 1): S99-S108.
    • (2008) Physiol Res , vol.57 , Issue.SUPPL. 1
    • Lukasova, P.1    Vcelak, J.2    Vankova, M.3    Vejrazkova, D.4    Andelova, K.5    Bendlova, B.6
  • 22
    • 68049137911 scopus 로고    scopus 로고
    • Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans
    • Gasperikova D, Tribble ND, Stanik J et al. Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans. Diabetes 2009: 58: 1929-1235.
    • (2009) Diabetes , vol.58 , pp. 1929-1235
    • Gasperikova, D.1    Tribble, N.D.2    Stanik, J.3
  • 23
    • 23844530637 scopus 로고    scopus 로고
    • Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly
    • Forsyth L, Hume R, Howatson A, Busuttil A, Burchell A. Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. J Mol Med 2005: 83: 610-618.
    • (2005) J Mol Med , vol.83 , pp. 610-618
    • Forsyth, L.1    Hume, R.2    Howatson, A.3    Busuttil, A.4    Burchell, A.5
  • 24
    • 47049101271 scopus 로고    scopus 로고
    • Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation
    • Christesen HB, Tribble ND, Molven A et al. Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol 2008: 159: 27-34.
    • (2008) Eur J Endocrinol , vol.159 , pp. 27-34
    • Christesen, H.B.1    Tribble, N.D.2    Molven, A.3
  • 25
    • 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 HB, Pedersen O, 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 2005: 90: 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.