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Volumn 15, Issue 1, 2015, Pages 49-54

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes

Author keywords

[No Author keywords available]

Indexed keywords

DIPEPTIDYL PEPTIDASE IV INHIBITOR; DNA BINDING PROTEIN; RFX6 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

EID: 84921863497     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2014.37     Document Type: Article
Times cited : (19)

References (23)
  • 1
    • 43549084587 scopus 로고    scopus 로고
    • Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
    • Vaxillaire M, Froguel P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev 2008; 29: 254-264.
    • (2008) Endocr Rev , vol.29 , pp. 254-264
    • Vaxillaire, M.1    Froguel, P.2
  • 2
    • 84877157032 scopus 로고    scopus 로고
    • Maturity onset diabetes of the young: Clinical characteristics, diagnosis and management
    • Kavvoura FK, Owen KR. Maturity onset diabetes of the young: clinical characteristics, diagnosis and management. Pediatr Endocrinol Rev 2013; 102: 234-242.
    • (2013) Pediatr Endocrinol Rev , vol.102 , pp. 234-242
    • Kavvoura, F.K.1    Owen, K.R.2
  • 4
    • 42449134450 scopus 로고    scopus 로고
    • Insulin mutation screening in 1044 patients with diabetes: Mutations in the ins gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
    • Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B et al. Insulin mutation screening in 1044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57: 1034-1042.
    • (2008) Diabetes , vol.57 , pp. 1034-1042
    • Edghill, E.L.1    Flanagan, S.E.2    Patch, A.M.3    Boustred, C.4    Parrish, A.5    Shields, B.6
  • 5
    • 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
  • 6
    • 84862207587 scopus 로고    scopus 로고
    • Whole-exome sequencing and high throughput genotyping identified kcnj11 as the thirteenth mody gene
    • Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS ONE 2012; 7: e37423.
    • (2012) PLoS ONE , vol.7
    • Bonnefond, A.1    Philippe, J.2    Durand, E.3    Dechaume, A.4    Huyvaert, M.5    Montagne, L.6
  • 8
    • 76749108047 scopus 로고    scopus 로고
    • Rfx6 directs islet formation and insulin production in mice and humans
    • Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010; 463: 775-780.
    • (2010) Nature , vol.463 , pp. 775-780
    • Smith, S.B.1    Qu, H.Q.2    Taleb, N.3    Kishimoto, N.Y.4    Scheel, D.W.5    Lu, Y.6
  • 9
    • 80052782507 scopus 로고    scopus 로고
    • RFX6 is needed for the development and maintenance of the b-cell phenotype
    • Taleb N, Polychronakos C. RFX6 is needed for the development and maintenance of the b-cell phenotype. Islets 2011; 3: 291-293.
    • (2011) Islets , vol.3 , pp. 291-293
    • Taleb, N.1    Polychronakos, C.2
  • 10
    • 19944431807 scopus 로고    scopus 로고
    • Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: Search for the aetiology of a new autosomal recessive syndrome
    • Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: Search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004; 47: 2160-2167.
    • (2004) Diabetologia , vol.47 , pp. 2160-2167
    • Mitchell, J.1    Punthakee, Z.2    Lo, B.3    Bernard, C.4    Chong, K.5    Newman, C.6
  • 12
    • 47149086948 scopus 로고    scopus 로고
    • A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
    • Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A et al. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet Part A 2008; 146A: 1713-1717.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 1713-1717
    • Chappell, L.1    Gorman, S.2    Campbell, F.3    Ellard, S.4    Rice, G.5    Dobbie, A.6
  • 13
    • 74149091082 scopus 로고    scopus 로고
    • Neonatal hemochromatosis and martinez-frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn
    • Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M et al. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Eur J Med Genet 2010; 53: 25-28.
    • (2010) Eur J Med Genet , vol.53 , pp. 25-28
    • Martinovici, D.1    Ransy, V.2    Vanden Eijnden, S.3    Ridremont, C.4    Pardou, A.5    Cassart, M.6
  • 14
    • 80054923598 scopus 로고    scopus 로고
    • Clinical characterization of a newly described neonatal diabetes syndrome caused by rfx6 mutations
    • Spiegel R, Dobbie A, Hartman C, de Vries L, Ellard S, Shalev SA. Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A 2011; 155A: 2821-2825.
    • (2011) Am J Med Genet A , vol.155 A , pp. 2821-2825
    • Spiegel, R.1    Dobbie, A.2    Hartman, C.3    De Vries, L.4    Ellard, S.5    Shalev, S.A.6
  • 15
    • 84883294497 scopus 로고    scopus 로고
    • WFS1 variants in finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims
    • Kytö vuori L, Seppänen A, Martikainen MH, Moilanen JS, Kamppari S, Särkioja T et al. WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. J Hum Genet 2013; 58: 495-500.
    • (2013) J Hum Genet , vol.58 , pp. 495-500
    • Kytövuori, L.1    Seppänen, A.2    Martikainen, M.H.3    Moilanen, J.S.4    Kamppari, S.5    Särkioja, T.6
  • 16
    • 80755145978 scopus 로고    scopus 로고
    • Neonatal diabetes: An expanding list of genes allows for improved diagnosis and treatment
    • Greeley SA, Naylor RN, Philipson LH, Bell GI. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep 2011; 11: 519-532.
    • (2011) Curr Diab Rep , vol.11 , pp. 519-532
    • Greeley, S.A.1    Naylor, R.N.2    Philipson, L.H.3    Bell, G.I.4
  • 17
    • 0037317981 scopus 로고    scopus 로고
    • Largescale association studies of variants in genes encoding the pancreatic beta-cell katp channel subunits kir6.2 (kcnj11) and sur1 (abcc8) confirm that the kcnj11 e23k variant is associated with type 2 diabetes
    • Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G et al. Largescale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003; 52: 568-572.
    • (2003) Diabetes , vol.52 , pp. 568-572
    • Gloyn, A.L.1    Weedon, M.N.2    Owen, K.R.3    Turner, M.J.4    Knight, B.A.5    Hitman, G.6
  • 18
    • 77954143522 scopus 로고    scopus 로고
    • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
    • Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010; 42: 579-589.
    • (2010) Nat Genet , vol.42 , pp. 579-589
    • Voight, B.F.1    Scott, L.J.2    Steinthorsdottir, V.3    Morris, A.P.4    Dina, C.5    Welch, R.P.6
  • 19
    • 73649093422 scopus 로고    scopus 로고
    • Rfx6 is an ngn3-dependent winged helix transcription factor required for pancreatic islet cell development
    • Soyer J, Flasse L, Raffelsberger W, Beucher A, Orvain C, Peers B et al. Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development. Development 2010; 137: 203-212.
    • (2010) Development , vol.137 , pp. 203-212
    • Soyer, J.1    Flasse, L.2    Raffelsberger, W.3    Beucher, A.4    Orvain, C.5    Peers, B.6
  • 20
    • 84872727458 scopus 로고    scopus 로고
    • Transcriptional regulatory factor x6 (rfx6) increases gastric inhibitory polypeptide (gip) expression in enteroendocrine k-cells and is involved in gip hypersecretion in high fat diet-induced obesity
    • Suzuki K, Harada N, Yamane S, Nakamura Y, Sasaki K, Nasteska D et al. Transcriptional regulatory factor X6 (Rfx6) increases gastric inhibitory polypeptide (GIP) expression in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity. J Biol Chem 2013; 288: 1929-1938.
    • (2013) J Biol Chem , vol.288 , pp. 1929-1938
    • Suzuki, K.1    Harada, N.2    Yamane, S.3    Nakamura, Y.4    Sasaki, K.5    Nasteska, D.6
  • 21
    • 77949430029 scopus 로고    scopus 로고
    • The effect of substituted thiophene and benzothiophene derivates on ppargamma expression and glucose metabolism
    • Shao H, Li D, Yang Y, Guo HF, Liu ZY, Si SY et al. The effect of substituted thiophene and benzothiophene derivates on PPARgamma expression and glucose metabolism. J Enzyme Inhib Med Chem 2010; 25: 282-289.
    • (2010) J Enzyme Inhib Med Chem , vol.25 , pp. 282-289
    • Shao, H.1    Li, D.2    Yang, Y.3    Guo, H.F.4    Liu, Z.Y.5    Si, S.Y.6
  • 22
    • 70450133969 scopus 로고    scopus 로고
    • Influence of genetic polymorphisms on the pharmacokinetics and pharmaco-dynamics of sulfonylurea drugs
    • Xu H, Murray M, McLachlan AJ. Influence of genetic polymorphisms on the pharmacokinetics and pharmaco-dynamics of sulfonylurea drugs. Curr Drug Metab 2009; 10: 643-658.
    • (2009) Curr Drug Metab , vol.10 , pp. 643-658
    • Xu, H.1    Murray, M.2    McLachlan, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.