메뉴 건너뛰기




Volumn 20, Issue 2, 2014, Pages 107-111

Mody-3: Novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAGON LIKE PEPTIDE 1 RECEPTOR; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HNF1A PROTEIN, HUMAN;

EID: 84894121269     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP13254.OR     Document Type: Article
Times cited : (25)

References (29)
  • 1
    • 0025057199 scopus 로고
    • Scope and heterogeneous nature of MODY
    • Fajans SS. Scope and heterogeneous nature of MODY. Diabetes Care. 1990;13:49-64.
    • (1990) Diabetes Care , vol.13 , pp. 49-64
    • Fajans, S.S.1
  • 2
    • 80955170054 scopus 로고    scopus 로고
    • MODY: History, genetics, pathophysiology, and clinical decision making
    • Fajans SS, Bell GI. MODY: History, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011;34:1878-1884.
    • (2011) Diabetes Care , vol.34 , pp. 1878-1884
    • Fajans, S.S.1    Bell, G.I.2
  • 3
    • 0034809513 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young: From clinical description to molecular genetic characterization
    • Owen K, Hattersley AT. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab. 2001;15:309-323.
    • (2001) Best Pract Res Clin Endocrinol Metab , vol.15 , pp. 309-323
    • Owen, K.1    Hattersley, A.T.2
  • 4
    • 0038691467 scopus 로고    scopus 로고
    • Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: Evidence for parent-of-origin effect
    • Klupa T, Warram JH, Antonellis A, et al. Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care. 2002;25:2292-2301.
    • (2002) Diabetes Care , vol.25 , pp. 2292-2301
    • Klupa, T.1    Warram, J.H.2    Antonellis, A.3
  • 5
    • 0031007206 scopus 로고    scopus 로고
    • Novel mutations and a mutational hotspot in the MODY3 gene
    • Glucksmann MA, Lehto M, Tayber O, et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes. 1997;46:1081-1086.
    • (1997) Diabetes , vol.46 , pp. 1081-1086
    • Glucksmann, M.A.1    Lehto, M.2    Tayber, O.3
  • 6
    • 0344441420 scopus 로고    scopus 로고
    • Regulation of pancreatic beta-cell function by the HNF transcription network: Lessons from maturity-onset diabetes of the young (MODY)
    • Yamagata K. Regulation of pancreatic beta-cell function by the HNF transcription network: Lessons from maturity-onset diabetes of the young (MODY). Endocr J. 2003;50:491-499.
    • (2003) Endocr J , vol.50 , pp. 491-499
    • Yamagata, K.1
  • 7
    • 10544249874 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
    • Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 1996;384:455-458.
    • (1996) Nature , vol.384 , pp. 455-458
    • Yamagata, K.1    Oda, N.2    Kaisaki, P.J.3
  • 8
    • 33748357551 scopus 로고    scopus 로고
    • Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
    • Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat. 2006;27:854-869.
    • (2006) Hum Mutat , vol.27 , pp. 854-869
    • Ellard, S.1    Colclough, K.2
  • 9
    • 79953219806 scopus 로고    scopus 로고
    • Genetic and clinical characteristics of patients with HNF1A gene variations from the german-austrian DPV database
    • Awa WL, Thon A, Raile K, et al. Genetic and clinical characteristics of patients with HNF1A gene variations from the german-austrian DPV database. Eur J Endocrinol. 2011;164:513-520.
    • (2011) Eur J Endocrinol , vol.164 , pp. 513-520
    • Awa, W.L.1    Thon, A.2    Raile, K.3
  • 10
    • 0036075535 scopus 로고    scopus 로고
    • Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families
    • 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;87:2532-2539.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2532-2539
    • Barrio, R.1    Bellanné-Chantelot, C.2    Moreno, J.C.3
  • 11
    • 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 JP, 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. 2008;57:503-508.
    • (2008) Diabetes , vol.57 , pp. 503-508
    • Bellanné-Chantelot, C.1    Carette, C.2    Riveline, J.P.3
  • 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 LW, Ellard S, Stride A, Morgan NG, Hattersley AT. 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. 2006;15:2216-2224.
    • (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
    • 33646416212 scopus 로고    scopus 로고
    • Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees
    • Fajans SS, Bell GI. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006;49:1106-1108.
    • (2006) Diabetologia , vol.49 , pp. 1106-1108
    • Fajans, S.S.1    Bell, G.I.2
  • 14
    • 0042265784 scopus 로고    scopus 로고
    • Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24
    • Kim SH, Ma X, Klupa T, et al. Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24. Diabetes. 2003;52:2182-2186.
    • (2003) Diabetes , vol.52 , pp. 2182-2186
    • Kim, S.H.1    Ma, X.2    Klupa, T.3
  • 16
    • 0033847575 scopus 로고    scopus 로고
    • Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: Evidence for pharmacogenetics in diabetes
    • Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 2000;17:543-545.
    • (2000) Diabet Med , vol.17 , pp. 543-545
    • Pearson, E.R.1    Liddell, W.G.2    Shepherd, M.3    Corrall, R.J.4    Hattersley, A.T.5
  • 17
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 18
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11:863-874.
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 19
    • 21444446875 scopus 로고    scopus 로고
    • Homeodomain revisited: A lesson from disease-causing mutations
    • Chi YI. Homeodomain revisited: A lesson from disease-causing mutations. Hum Genet. 2005;116:433-444.
    • (2005) Hum Genet , vol.116 , pp. 433-444
    • Chi, Y.I.1
  • 20
    • 28444436600 scopus 로고    scopus 로고
    • Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation
    • Bjørkhaug L, Bratland A, Njølstad PR, Molven A. Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. DNA Cell Biol. 2005;24:661-669.
    • (2005) DNA Cell Biol , vol.24 , pp. 661-669
    • Bjørkhaug, L.1    Bratland, A.2    Njølstad, P.R.3    Molven, A.4
  • 22
    • 15144347575 scopus 로고    scopus 로고
    • Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
    • Chèvre JC, Hani EH, Boutin P, et al. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia. 1998;41:1017-1023.
    • (1998) Diabetologia , vol.41 , pp. 1017-1023
    • Chèvre, J.C.1    Hani, E.H.2    Boutin, P.3
  • 23
    • 34447134914 scopus 로고    scopus 로고
    • Etiology of early-onset type 2 diabetes in Indians: Islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene
    • Sahu RP, Aggarwal A, Zaidi G, et al. Etiology of early-onset type 2 diabetes in Indians: Islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene. J Clin Endocrinol Metab. 2007;92:2462-2467.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2462-2467
    • Sahu, R.P.1    Aggarwal, A.2    Zaidi, G.3
  • 24
    • 84856396796 scopus 로고    scopus 로고
    • Comprehensive molecular analysis of japanese patients with pediatric-onset MODY-type diabetes mellitus
    • Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive molecular analysis of japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes. 2012;13:26-32.
    • (2012) Pediatr Diabetes , vol.13 , pp. 26-32
    • Yorifuji, T.1    Fujimaru, R.2    Hosokawa, Y.3
  • 25
    • 0242383351 scopus 로고    scopus 로고
    • The pathophysiology of diabetes involves a defective amplification of the late-phase insulin response to glucose by glucose-dependent insulinotropic polypeptide-regardless of etiology and phenotype
    • Vilsbøll T, Knop FK, Krarup T, et al. The pathophysiology of diabetes involves a defective amplification of the late-phase insulin response to glucose by glucose-dependent insulinotropic polypeptide-regardless of etiology and phenotype. J Clin Endocrinol Metab. 2003;88:4897-4903.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4897-4903
    • Vilsbøll, T.1    Knop, F.K.2    Krarup, T.3
  • 26
    • 26444501029 scopus 로고    scopus 로고
    • Beta-cell expression of a dominant-negative HNF-1alpha compromises the ability of inhibition of dipeptidyl peptidase-4 to elicit a long-term augmentation of insulin secretion in mice
    • Ahrén B, Sörhede Winzell M, Burkey B, Hughes TE. Beta-cell expression of a dominant-negative HNF-1alpha compromises the ability of inhibition of dipeptidyl peptidase-4 to elicit a long-term augmentation of insulin secretion in mice. Eur J Pharmacol. 2005;521:164-168.
    • (2005) Eur J Pharmacol , vol.521 , pp. 164-168
    • Ahrén, B.1    Winzell, M.S.2    Burkey, B.3    Hughes, T.E.4
  • 27
    • 70349377156 scopus 로고    scopus 로고
    • Exenatide-A potential role in treatment of HNF1-alpha MODY in obese patients?
    • Ahluwalia R, Perkins K, Ewins D, Goenka N. Exenatide-a potential role in treatment of HNF1-alpha MODY in obese patients? Diabet Med. 2009;26:834-835.
    • (2009) Diabet Med , vol.26 , pp. 834-835
    • Ahluwalia, R.1    Perkins, K.2    Ewins, D.3    Goenka, N.4
  • 28
    • 60049096500 scopus 로고    scopus 로고
    • Treatment of HNF1-alpha MODY with the DPP-4 inhibitor Sitagliptin (1)
    • Lumb AN, Gallen IW. Treatment of HNF1-alpha MODY with the DPP-4 inhibitor Sitagliptin (1). Diabet Med. 2009;26:189-190.
    • (2009) Diabet Med , vol.26 , pp. 189-190
    • Lumb, A.N.1    Gallen, I.W.2
  • 29
    • 77949371582 scopus 로고    scopus 로고
    • Dipeptidyl peptidase-IV inhibitors are efficient adjunct therapy in HNF1A maturity-onset diabetes of the young patients-report of two cases
    • Katra B, Klupa T, Skupien J, et al. Dipeptidyl peptidase-IV inhibitors are efficient adjunct therapy in HNF1A maturity-onset diabetes of the young patients-report of two cases. Diabetes Technol Ther. 2010;12:313-316.
    • (2010) Diabetes Technol Ther , vol.12 , pp. 313-316
    • Katra, B.1    Klupa, T.2    Skupien, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.