PubMed

A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes.

Ek J, Hansen SP, Lajer M, Nicot C, Boesgaard TW, Pruhova S, Johansen A, Albrechtsen A, Yderstraede K, Lauenborg J, Parrizas M, Boj SF, Jørgensen T, Borch-Johnsen K, Damm P, Ferrer J, Lebl J, Pedersen O, Hansen T.

Diabetes. 2006 Jun;55(6):1869-73.PMID: 16731855 [PubMed - indexed for MEDLINE]Related articlesFree article

A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry.

Raeder H, Bjørkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A, Følling I, Johansen O, Bjørgaas M, Paus PN, Søvik O, Molven A, Njølstad PR.

Diabetes. 2006 Jun;55(6):1899-903.PMID: 16731861 [PubMed - indexed for MEDLINE]Related articlesFree article

Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes.

Mitchell SM, Vaxillaire M, Thomas H, Parrizas M, Benmezroua Y, Costa A, Hansen T, Owen KR, Tuomi T, Pirie F, Ryffel GU, Ferrer J, Froguel P, Hattersley AT, Frayling TM.

Diabetologia. 2002 Sep;45(9):1344-8. Epub 2002 Jul 19.PMID: 12242469 [PubMed - indexed for MEDLINE]Related articles

A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young.

Møller AM, Dalgaard LT, Ambye L, Hansen L, Schmitz O, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 1999 Jan;84(1):367-9.PMID: 9920109 [PubMed - indexed for MEDLINE]Related articlesFree article

Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.

Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O.

Hum Mutat. 2001 Oct;18(4):356-7.PMID: 11668623 [PubMed - indexed for MEDLINE]Related articles

Hepatocyte nuclear factor-4alpha P2 promoter haplotypes are associated with type 2 diabetes in the Japanese population.

Hara K, Horikoshi M, Kitazato H, Ito C, Noda M, Ohashi J, Froguel P, Tokunaga K, Tobe K, Nagai R, Kadowaki T.

Diabetes. 2006 May;55(5):1260-4.PMID: 16644680 [PubMed - indexed for MEDLINE]Related articlesFree article

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.PMID: 18268044 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

J Clin Endocrinol Metab. 2005 Aug;90(8):4607-14. Epub 2005 May 31.PMID: 15928245 [PubMed - indexed for MEDLINE]Related articlesFree article

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT.

PLoS Med. 2007 Apr;4(4):e118.PMID: 17407387 [PubMed - indexed for MEDLINE]Related articlesFree article

A common P2 promoter polymorphism of the hepatocyte nuclear factor-4alpha gene is associated with insulin secretion in non-obese Japanese with type 2 diabetes.

Tokunaga A, Horikawa Y, Fukuda-Akita E, Okita K, Iwahashi H, Shimomura I, Takeda J, Yamagata K.

Endocr J. 2008 Dec;55(6):999-1004. Epub 2008 Jul 24.PMID: 18654034 [PubMed - indexed for MEDLINE]Related articlesFree article

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT.

Diabetes. 2008 Jun;57(6):1745-52. Epub 2008 Mar 20.PMID: 18356407 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Xu JY, Dan QH, Chan V, Wat NM, Tam S, Tiu SC, Lee KF, Siu SC, Tsang MW, Fung LM, Chan KW, Lam KS.

Eur J Hum Genet. 2005 Apr;13(4):422-7.PMID: 15657605 [PubMed - indexed for MEDLINE]Related articlesFree article

Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians.

Johansson S, Raeder H, Eide SA, Midthjell K, Hveem K, Søvik O, Molven A, Njølstad PR.

Diabetes. 2007 Dec;56(12):3112-7. Epub 2007 Sep 7.PMID: 17827402 [PubMed - indexed for MEDLINE]Related articlesFree article

Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish.

Damcott CM, Hoppman N, Ott SH, Reinhart LJ, Wang J, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR.

Diabetes. 2004 Dec;53(12):3337-41.PMID: 15561969 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees.

Yang Z, Wu SH, Zheng TS, Lu HJ, Xiang KS.

Chin Med J (Engl). 2006 Jul 5;119(13):1072-8.PMID: 16834925 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients.

Price JA, Fossey SC, Sale MM, Brewer CS, Freedman BI, Wuerth JP, Bowden DW.

Diabetologia. 2000 Mar;43(3):364-72.PMID: 10768098 [PubMed - indexed for MEDLINE]Related articles

Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.

Møller AM, Ek J, Durviaux SM, Urhammer SA, Clausen JO, Eiberg H, Hansen T, Rousseau GG, Lemaigre FP, Pedersen O.

Diabetologia. 1999 Aug;42(8):1011-6.PMID: 10491763 [PubMed - indexed for MEDLINE]Related articles

A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young.

Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, Hattersley AT.

Hum Mol Genet. 2001 Sep 15;10(19):2089-97.PMID: 11590126 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families.

Domínguez-López A, Miliar-García A, Segura-Kato YX, Riba L, Esparza-López R, Ramírez-Jiménez S, Rodríguez-Torres M, Canizales-Quinteros S, Cabrera-Vásquez S, Fragoso-Ontiveros V, Aguilar-Salinas CA, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Bravo-Ríos LE, Tusié-Luna MT.

JOP. 2005 May 10;6(3):238-45.PMID: 15883474 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Hum Mutat. 2006 Sep;27(9):854-69.PMID: 16917892 [PubMed - indexed for MEDLINE]Related articles