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    Results: 1 to 20 of 203

    1.

    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

    2.

    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

    3.

    Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function.

    Hansen SK, Párrizas M, Jensen ML, Pruhova S, Ek J, Boj SF, Johansen A, Maestro MA, Rivera F, Eiberg H, Andel M, Lebl J, Pedersen O, Ferrer J, Hansen T.

    J Clin Invest. 2002 Sep;110(6):827-33.PMID: 12235114 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.

    Chèvre JC, Hani EH, Boutin P, Vaxillaire M, Blanché H, Vionnet N, Pardini VC, Timsit J, Larger E, Charpentier G, Beckers D, Maes M, Bellanné-Chantelot C, Velho G, Froguel P.

    Diabetologia. 1998 Sep;41(9):1017-23.PMID: 9754819 [PubMed - indexed for MEDLINE]Related articles

    5.

    Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

    Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI.

    Nature. 1996 Dec 5;384(6608):458-60.PMID: 8945471 [PubMed - indexed for MEDLINE]Related articles

    6.

    Mutations in the genes for hepatocyte nuclear factor (HNF)-1alpha, -4alpha, -1beta, and -3beta; the dimerization cofactor of HNF-1; and insulin promoter factor 1 are not common causes of early-onset type 2 diabetes in Pima Indians.

    Baier LJ, Permana PA, Traurig M, Dobberfuhl A, Wiedrich C, Sutherland J, Thuillez P, Luczy-Bachman G, Hara M, Horikawa Y, Hinokio Y, Hanson RL, Bogardus C.

    Diabetes Care. 2000 Mar;23(3):302-4.PMID: 10868855 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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

    8.

    Functional study of the E276Q mutant hepatocyte nuclear factor-4alpha found in type 1 maturity-onset diabetes of the young: impaired synergy with chicken ovalbumin upstream promoter transcription factor II on the hepatocyte nuclear factor-1 promoter.

    Suaud L, Hemimou Y, Formstecher P, Laine B.

    Diabetes. 1999 May;48(5):1162-7.PMID: 10331424 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

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

    Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT.

    Diabetologia. 1997 Jul;40(7):859-62.PMID: 9243109 [PubMed - indexed for MEDLINE]Related articles

    10.

    Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.

    Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI.

    Diabetes. 1997 Oct;46(10):1648-51.PMID: 9313764 [PubMed - indexed for MEDLINE]Related articles

    11.

    A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.

    Hani EH, Suaud L, Boutin P, Chèvre JC, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, Bell GI, Laine B, Froguel P.

    J Clin Invest. 1998 Feb 1;101(3):521-6.PMID: 9449683 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    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

    13.

    Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.

    Lindner T, Gragnoli C, Furuta H, Cockburn BN, Petzold C, Rietzsch H, Weiss U, Schulze J, Bell GI.

    J Clin Invest. 1997 Sep 15;100(6):1400-5.PMID: 9294105 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The role of transcription factors in maturity-onset diabetes of the young.

    Mitchell SM, Frayling TM.

    Mol Genet Metab. 2002 Sep-Oct;77(1-2):35-43. Review.PMID: 12359128 [PubMed - indexed for MEDLINE]Related articles

    15.

    beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

    Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, Hattersley AT.

    Diabetes. 2001 Feb;50 Suppl 1:S94-100.PMID: 11272211 [PubMed - indexed for MEDLINE]Related articles

    16.

    [Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)]

    Takeda J.

    Nippon Rinsho. 1998 Sep;56(9):2419-26. Review. Japanese. PMID: 9780731 [PubMed - indexed for MEDLINE]Related articles

    17.

    No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY.

    Hara M, Wang X, Paz VP, Cox NJ, Iwasaki N, Ogata M, Iwamoto Y, Bell GI.

    Diabetologia. 2000 Aug;43(8):1064-9.PMID: 10990086 [PubMed - indexed for MEDLINE]Related articles

    18.

    Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

    Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J.

    Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):575-80. Epub 2001 Jan 2.PMID: 11136233 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.

    Love-Gregory LD, Wasson J, Ma J, Jin CH, Glaser B, Suarez BK, Permutt MA.

    Diabetes. 2004 Apr;53(4):1134-40.PMID: 15047632 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    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

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