PubMed

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

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.

Hum Mol Genet. 2006 Jul 15;15(14):2216-24. Epub 2006 Jun 7.PMID: 16760222 [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

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

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

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

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

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

Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?

Karlsson E, Shaat N, Groop L.

Diabet Med. 2008 Jul;25(7):788-91.PMID: 18513302 [PubMed - indexed for MEDLINE]Related articles

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT.

Diabetes. 2002 Jul;51(7):2329-33.PMID: 12086970 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel P2 promoter-derived HNF4alpha isoforms with different N-terminus generated by alternate exon insertion.

Huang J, Levitsky LL, Rhoads DB.

Exp Cell Res. 2009 Apr 15;315(7):1200-11.PMID: 19353766 [PubMed - indexed for MEDLINE]Related articles

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

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, Valéro R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, Lecomte P, Chaillous L, Laloi-Michelin M, Wilhem JM, Cuny P, Duron F, Guerci B, Jeandidier N, Mosnier-Pudar H, Assayag M, Dubois-Laforgue D, Velho G, Timsit J.

Diabetes. 2008 Feb;57(2):503-8. Epub 2007 Nov 14.PMID: 18003757 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.

Monney CT, Kaltenrieder V, Cousin P, Bonny C, Schorderet DF.

Hum Mutat. 2002 Sep;20(3):230-1.PMID: 12203996 [PubMed - indexed for MEDLINE]Related articles

P2 promoter variants of the hepatocyte nuclear factor 4alpha gene are associated with type 2 diabetes in Mexican Americans.

Lehman DM, Richardson DK, Jenkinson CP, Hunt KJ, Dyer TD, Leach RJ, Arya R, Abboud HE, Blangero J, Duggirala R, Stern MP.

Diabetes. 2007 Feb;56(2):513-7.PMID: 17259399 [PubMed - indexed for MEDLINE]Related articlesFree article

Prenatal programming of hepatocyte nuclear factor 4alpha in the rat: A key mechanism in the 'foetal origins of hyperglycaemia'?

Nyirenda MJ, Dean S, Lyons V, Chapman KE, Seckl JR.

Diabetologia. 2006 Jun;49(6):1412-20. Epub 2006 Mar 29.PMID: 16570165 [PubMed - indexed for MEDLINE]Related articles

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