메뉴 건너뛰기




Volumn 52, Issue 5, 2009, Pages 982-985

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

Author keywords

G6PC2; IGRP; MODY; Mutation screening; Neonatal diabetes mellitus; Pancreatic beta cell; Persistent hypoglycaemia of infancy

Indexed keywords

GLUCOSE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 2; GLYCOPROTEIN; UNCLASSIFIED DRUG;

EID: 64149104750     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-009-1299-6     Document Type: Article
Times cited : (3)

References (14)
  • 1
    • 43549084587 scopus 로고    scopus 로고
    • Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
    • M Vaxillaire P Froguel 2008 Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes Endocr Rev 29 254 264
    • (2008) Endocr Rev , vol.29 , pp. 254-264
    • Vaxillaire, M.1    Froguel, P.2
  • 2
    • 43549102666 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus
    • L Aguilar-Bryan J Bryan 2008 Neonatal diabetes mellitus Endocr Rev 29 265 291
    • (2008) Endocr Rev , vol.29 , pp. 265-291
    • Aguilar-Bryan, L.1    Bryan, J.2
  • 3
    • 39049122110 scopus 로고    scopus 로고
    • What's new in metabolic and genetic hypoglycaemias: Diagnosis and management
    • V Valayannopoulos S Romano K Mention 2008 What's new in metabolic and genetic hypoglycaemias: diagnosis and management Eur J Pediatr 167 257 265
    • (2008) Eur J Pediatr , vol.167 , pp. 257-265
    • Valayannopoulos, V.1    Romano, S.2    Mention, K.3
  • 4
    • 24944508637 scopus 로고    scopus 로고
    • In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity
    • JJ Shieh CJ Pan BC Mansfield JY Chou 2005 In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity Diabetologia 48 1851 1859
    • (2005) Diabetologia , vol.48 , pp. 1851-1859
    • Shieh, J.J.1    Pan, C.J.2    Mansfield, B.C.3    Chou, J.Y.4
  • 5
    • 1542301049 scopus 로고    scopus 로고
    • Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein
    • JN Boustead CC Martin JK Oeser 2004 Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein J Mol Endocrinol 32 33 53
    • (2004) J Mol Endocrinol , vol.32 , pp. 33-53
    • Boustead, J.N.1    Martin, C.C.2    Oeser, J.K.3
  • 6
    • 44449091627 scopus 로고    scopus 로고
    • A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels
    • N Bouatia-Naji G Rocheleau L Van Lommel 2008 A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels Science 320 1085 1088
    • (2008) Science , vol.320 , pp. 1085-1088
    • Bouatia-Naji, N.1    Rocheleau, G.2    Van Lommel, L.3
  • 7
    • 46749100599 scopus 로고    scopus 로고
    • Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
    • WM Chen MR Erdos AU Jackson 2008 Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels J Clin Invest 118 2620 2628
    • (2008) J Clin Invest , vol.118 , pp. 2620-2628
    • Chen, W.M.1    Erdos, M.R.2    Jackson, A.U.3
  • 8
    • 59449107261 scopus 로고    scopus 로고
    • A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population
    • Hu C, Zhang R, Wang C, et al (2009) A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population. Diabetologia 52:451-456
    • (2009) Diabetologia , vol.52 , pp. 451-456
    • Hu, C.1    Zhang, R.2    Wang, C.3
  • 9
    • 33847620145 scopus 로고    scopus 로고
    • Deletion of the gene encoding the islet-specific glucose-6-phosphatase catalytic subunit-related protein autoantigen results in a mild metabolic phenotype
    • Y Wang CC Martin JK Oeser 2007 Deletion of the gene encoding the islet-specific glucose-6-phosphatase catalytic subunit-related protein autoantigen results in a mild metabolic phenotype Diabetologia 50 774 778
    • (2007) Diabetologia , vol.50 , pp. 774-778
    • Wang, Y.1    Martin, C.C.2    Oeser, J.K.3
  • 10
    • 33845950145 scopus 로고    scopus 로고
    • No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects
    • S Cauchi M Vaxillaire H Choquet 2007 No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects Diabetologia 50 214 216
    • (2007) Diabetologia , vol.50 , pp. 214-216
    • Cauchi, S.1    Vaxillaire, M.2    Choquet, H.3
  • 11
    • 34547670061 scopus 로고    scopus 로고
    • Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction
    • JA Minton M van de Bunt C Boustred 2007 Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction Diabetologia 50 2019 2022
    • (2007) Diabetologia , vol.50 , pp. 2019-2022
    • Minton, J.A.1    Van De Bunt, M.2    Boustred, C.3
  • 12
    • 34548493658 scopus 로고    scopus 로고
    • Mutations in the SLC30A8 gene are not a major cause of MODY or other forms of early-onset, autosomal dominant type 2 diabetes
    • M Borowiec R Thompson C Powers R Xu T Dickey A Doria 2007 Mutations in the SLC30A8 gene are not a major cause of MODY or other forms of early-onset, autosomal dominant type 2 diabetes Diabetologia 50 2224 2226
    • (2007) Diabetologia , vol.50 , pp. 2224-2226
    • Borowiec, M.1    Thompson, R.2    Powers, C.3    Xu, R.4    Dickey, T.5    Doria, A.6
  • 13
    • 24144467758 scopus 로고    scopus 로고
    • Activating mutations in Kir6.2 and neonatal diabetes: New clinical syndromes, new scientific insights, and new therapy
    • AT Hattersley FM Ashcroft 2005 Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy Diabetes 54 2503 2513
    • (2005) Diabetes , vol.54 , pp. 2503-2513
    • Hattersley, A.T.1    Ashcroft, F.M.2
  • 14
    • 38449112527 scopus 로고    scopus 로고
    • Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: Therapeutic consequences
    • I Flechtner M Vaxillaire H Cave R Scharfmann P Froguel M Polak 2007 Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences Endocr Dev 12 86 98
    • (2007) Endocr Dev , vol.12 , pp. 86-98
    • Flechtner, I.1    Vaxillaire, M.2    Cave, H.3    Scharfmann, R.4    Froguel, P.5    Polak, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.