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Volumn 117, Issue 8, 2009, Pages 391-394

Glucokinase gene mutation screening in argentinean clinically characterized MODY patients

Author keywords

Diabetes; Glucokinase; MODY 2; Mutation

Indexed keywords

GLUCOKINASE;

EID: 70350462953     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0029-1214427     Document Type: Article
Times cited : (6)

References (30)
  • 1
    • 0036075535 scopus 로고    scopus 로고
    • Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
    • et al (6)
    • Barrio R, Bellanné-Chantelot C, Moreno JC, et al. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab 2002 87 (6) 2532-2539
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2532-2539
    • Barrio, R.1    Bellanné-Chantelot, C.2    Moreno, J.C.3
  • 2
    • 0031748728 scopus 로고    scopus 로고
    • Mutations in hepatocyte nuclear factor 4 are not a common cause of maturity-onset diabetes of the young in the UK.
    • et al
    • Beards F, Frayling T, Bulman M, et al. Mutations in hepatocyte nuclear factor 4 are not a common cause of maturity-onset diabetes of the young in the UK. Diabetes 1998 47 1152-1154
    • (1998) Diabetes , vol.47 , pp. 1152-1154
    • Beards, F.1    Frayling, T.2    Bulman, M.3
  • 3
    • 33746014444 scopus 로고    scopus 로고
    • Did the gradual loss of GLUT2 cause a shift to diabetic disorders in the New Zealand obese mouse (NZO/Hl)?
    • et al (5)
    • Chankiewitz E, Peschke D, Herberg L, et al. Did the gradual loss of GLUT2 cause a shift to diabetic disorders in the New Zealand obese mouse (NZO/Hl)? Exp Clin Endocrinol Diabetes; 05 2006 114 (5) 262-269
    • (2006) Exp Clin Endocrinol Diabetes; 05 , vol.114 , pp. 262-269
    • Chankiewitz, E.1    Peschke, D.2    Herberg, L.3
  • 4
    • 15144347575 scopus 로고    scopus 로고
    • Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
    • et al (9)
    • Ch̀vre JC, Hani EH, Boutin P, et al. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 1998 41 (9) 1017-1023
    • (1998) Diabetologia , vol.41 , pp. 1017-1023
    • Chèvre, J.C.1    Hani, E.H.2    Boutin, P.3
  • 5
    • 36148937941 scopus 로고    scopus 로고
    • The importance of adipose tissue in diabetes pathophysiology and treatment.
    • (10)
    • Dimitriadis G, Boutati E, Raptis SA. The importance of adipose tissue in diabetes pathophysiology and treatment. Horm Metab Res 2007 39 (10) 705-706
    • (2007) Horm Metab Res , vol.39 , pp. 705-706
    • Dimitriadis, G.1    Boutati, E.2    Raptis, S.A.3
  • 6
    • 0033911742 scopus 로고    scopus 로고
    • Recent advances in the genetics of maturity onset diabetes in the young and other forms of autosomal dominant diabetes.
    • Doria A, Plengvidhya N. Recent advances in the genetics of maturity onset diabetes in the young and other forms of autosomal dominant diabetes. Curr Opinion Endocrinol Diabetes 2000 7 203-210
    • (2000) Curr Opinion Endocrinol Diabetes , vol.7 , pp. 203-210
    • Doria, A.1    Plengvidhya, N.2
  • 7
    • 0034000635 scopus 로고    scopus 로고
    • A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
    • et al (2)
    • Ellard S, Beards F, Allen LI, et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000 43 (2) 250-253
    • (2000) Diabetologia , vol.43 , pp. 250-253
    • Ellard, S.1    Beards, F.2    Allen, L.I.3
  • 8
    • 41149139275 scopus 로고    scopus 로고
    • Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. European Molecular Genetics Quality Network (EMQN) MODY group.
    • Ellard S, Bellanné-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. European Molecular Genetics Quality Network (EMQN) MODY group. Diabetologia 2008 51 546-553
    • (2008) Diabetologia , vol.51 , pp. 546-553
    • Ellard, S.1    Bellanné-Chantelot, C.2    Hattersley, A.T.3
  • 9
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanism and clinical pathophysiology of maturity-onset diabetes of the young.
    • Fajans SS, Bell GI, Polonsky KS. Molecular mechanism 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
  • 10
    • 0242692408 scopus 로고    scopus 로고
    • A novel mutation in Exon 5 of the Glucokinase gene in an Argentine MODY Family.
    • et al (2)
    • Frechtel GD, López AP, Rodríguez M, et al. A novel mutation in Exon 5 of the Glucokinase gene in an Argentine MODY Family. Molecular Diagnosis 2003 7 (2) 129-131
    • (2003) Molecular Diagnosis , vol.7 , pp. 129-131
    • Frechtel, G.D.1    López, A.P.2    Rodríguez, M.3
  • 11
    • 0026608764 scopus 로고
    • Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.
    • et al (6365)
    • Froguel P, Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 1992 356 (6365) 162-164
    • (1992) Nature , vol.356 , pp. 162-164
    • Froguel, P.1    Vaxillaire, M.2    Sun, F.3
  • 12
    • 0027472126 scopus 로고
    • Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
    • et al
    • Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993 328 697-702
    • (1993) N Engl J Med , vol.328 , pp. 697-702
    • Froguel, P.1    Zouali, H.2    Vionnet, N.3
  • 13
    • 34250815211 scopus 로고    scopus 로고
    • Functional analysis of human glucokinase gene mutations causing MODY 2: Exploring the regulatory mechanisms of glucokinase activity.
    • et al (2)
    • García-Herrero CM, Galán M, Vincent O, et al. Functional analysis of human glucokinase gene mutations causing MODY 2: exploring the regulatory mechanisms of glucokinase activity. Diabetología 2007 50 (2) 325-333
    • (2007) Diabetología , vol.50 , pp. 325-333
    • García-Herrero, C.M.1    Galán, M.2    Vincent, O.3
  • 14
    • 34247604997 scopus 로고    scopus 로고
    • Rising incidence of type 2 diabetes in children in the UK.
    • et al
    • Haines L MSC, Kay Chong Wan DPHIL, Lynn R, et al. Rising incidence of type 2 diabetes in children in the UK. Diabetes Care 2007 30 1097-1101
    • (2007) Diabetes Care , vol.30 , pp. 1097-1101
    • Haines, L.M.1    Kay Chong Wan, D.2    Lynn, R.3
  • 15
    • 36849005549 scopus 로고    scopus 로고
    • Sustained expression of hepatocyte nuclear factor-6 leads to loss of pancreatic beta-cells by apoptosis.
    • et al (10)
    • Hara M, Shen J, Pugh W, et al. Sustained expression of hepatocyte nuclear factor-6 leads to loss of pancreatic beta-cells by apoptosis. Exp Clin Endocrinol Diabetes 2007 115 (10) 654-661
    • (2007) Exp Clin Endocrinol Diabetes , vol.115 , pp. 654-661
    • Hara, M.1    Shen, J.2    Pugh, W.3
  • 16
    • 33847174607 scopus 로고    scopus 로고
    • Two Caucasian families with the hepatocyte nuclear factor-1Alpha mutation Tyr218Cys.
    • et al (1)
    • Hummel M, Vasseur F, Mathieu C, et al. Two Caucasian families with the hepatocyte nuclear factor-1Alpha mutation Tyr218Cys. Exp Clin Endocrinol Diabetes 2007 115 (1) 62-64
    • (2007) Exp Clin Endocrinol Diabetes , vol.115 , pp. 62-64
    • Hummel, M.1    Vasseur, F.2    Mathieu, C.3
  • 18
    • 0032880513 scopus 로고    scopus 로고
    • Structural model of human glucokinase in complex with glucose and ATP.
    • et al
    • Mahalingam B, Cuesta Muñoz A, Davis EA, et al. Structural model of human glucokinase in complex with glucose and ATP. Diabetes 1999 48 1698-1999
    • (1999) Diabetes , vol.48 , pp. 1698-1999
    • Mahalingam, B.1    Cuesta Muñoz, A.2    Davis, E.A.3
  • 19
    • 0242333673 scopus 로고    scopus 로고
    • Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.
    • et al (4)
    • Mantovani V, Salardi S, Cerreta V, et al. Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Hum Mutat 2003 22 (4) 338
    • (2003) Hum Mutat , vol.22 , pp. 338
    • Mantovani, V.1    Salardi, S.2    Cerreta, V.3
  • 20
    • 1842334456 scopus 로고    scopus 로고
    • Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus [10]
    • Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 1997 20 1 [10]
    • (1997) Diabetes Care , vol.20 , pp. 1
  • 21
    • 0032957363 scopus 로고    scopus 로고
    • Emerging epidemic of type 2 diabetes in Mexican-American youth.
    • Rosenbloom AL. Emerging epidemic of type 2 diabetes in Mexican-American youth. Diabetes Care 1999 22 345-354
    • (1999) Diabetes Care , vol.22 , pp. 345-354
    • Rosenbloom, A.L.1
  • 22
    • 0026639928 scopus 로고
    • Human glucokinase gene: Isolation, characterization and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
    • et al
    • Stoffel M, Froguel PH, Takeda J, 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 Natl Acad Sci USA Genetics 1992 89 7698-7702
    • (1992) Proc Natl Acad Sci USA Genetics , vol.89 , pp. 7698-7702
    • Stoffel, M.1    Froguel, P.H.2    Takeda, J.3
  • 23
    • 0026655031 scopus 로고
    • Human glucokinase gene: Isolation, structural characterization and identification of a microsatellite repeat polymorphism.
    • et al
    • Tanizawa Y, Matsutani A, Chiu KC, et al. Human glucokinase gene: isolation, structural characterization and identification of a microsatellite repeat polymorphism. Mol Endocrinol 1992 6 1070-1081
    • (1992) Mol Endocrinol , vol.6 , pp. 1070-1081
    • Tanizawa, Y.1    Matsutani, A.2    Chiu, K.C.3
  • 24
    • 79960265883 scopus 로고    scopus 로고
    • Committee report.
    • The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. (Suppl. 1)
    • The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Committee report. Diabetes Care 2000 23 (Suppl. 1) [11]
    • (2000) Diabetes Care , vol.23 , pp. 11
  • 25
    • 2142743355 scopus 로고    scopus 로고
    • Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucassians with Maturity Onset Diabetes of the Young (MODY).
    • et al (5)
    • Thomson KL, Gloyn AL, Colclough K, et al. Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucassians with Maturity Onset Diabetes of the Young (MODY). Hum Mutat Nov 2003 22 (5) 417
    • (2003) Hum Mutat Nov , vol.22 , pp. 417
    • Thomson, K.L.1    Gloyn, A.L.2    Colclough, K.3
  • 26
    • 16644385273 scopus 로고    scopus 로고
    • An underdiagnosed type of diabetes: The MODY syndromes. Pathophysiology, clinical presentation and renal disease progression.
    • Tsakiris D, Ioannou K. An underdiagnosed type of diabetes: The MODY syndromes. Pathophysiology, clinical presentation and renal disease progression. J Nephrol 2004 7 637-641
    • (2004) J Nephrol , vol.7 , pp. 637-641
    • Tsakiris, D.1    Ioannou, K.2
  • 27
    • 0029864561 scopus 로고    scopus 로고
    • Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
    • et al (8)
    • Velho G, Petersen KF, Perseghin G, et al. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J Clin Invest 1996 98 (8) 1755-1761
    • (1996) J Clin Invest , vol.98 , pp. 1755-1761
    • Velho, G.1    Petersen, K.F.2    Perseghin, G.3
  • 28
    • 8044260804 scopus 로고    scopus 로고
    • Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY 2 families.
    • et al
    • 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
  • 29
    • 0031965862 scopus 로고    scopus 로고
    • Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young.
    • Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol 1998 138 233-239
    • (1998) Eur J Endocrinol , vol.138 , pp. 233-239
    • Velho, G.1    Froguel, P.2
  • 30
    • 33847361938 scopus 로고    scopus 로고
    • Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
    • et al (3)
    • Winckler W, Weedon MN, Graham RR, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007 56 (3) 685-693
    • (2007) Diabetes , vol.56 , pp. 685-693
    • Winckler, W.1    Weedon, M.N.2    Graham, R.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.