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Items: 1 to 20 of 369

1.

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.

2.

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
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
5.

Variants in the hepatocyte nuclear factor-1alpha and -4alpha genes in Finnish and Chinese subjects with late-onset type 2 diabetes.

Rissanen J, Wang H, Miettinen R, Kärkkäinen P, Kekäläinen P, Mykkänen L, Kuusisto J, Karhapää P, Niskanen L, Uusitupa M, Laakso M.

Diabetes Care. 2000 Oct;23(10):1533-8.

6.

Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM.

Møller AM, Urhammer SA, Dalgaard LT, Reneland R, Berglund L, Hansen T, Clausen JO, Lithell H, Pedersen O.

Diabetologia. 1997 Aug;40(8):980-3.

PMID:
9267996
7.

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
8.

Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus.

Velho G, Froguel P.

Diabetes Metab. 1997 Mar;23 Suppl 2:34-7. Review.

PMID:
9162575
9.

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.

10.

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P.

Hum Mol Genet. 1997 Apr;6(4):583-6.

11.

Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b.

Sakurai K, Seki N, Fujii R, Yagui K, Tokuyama Y, Shimada F, Makino H, Suzuki Y, Hashimoto N, Saito Y, Egashira T, Matsui K, Kanatsuka A.

Horm Metab Res. 2000 Aug;32(8):316-20.

PMID:
10983627
12.
13.

Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus.

Malecki MT, Yang Y, Antonellis A, Curtis S, Warram JH, Krolewski AS.

Diabet Med. 1999 Mar;16(3):193-200.

PMID:
10227563
14.

Liver and kidney function in Japanese patients with maturity-onset diabetes of the young.

Iwasaki N, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Yano N, Iwamoto Y.

Diabetes Care. 1998 Dec;21(12):2144-8.

PMID:
9839108
15.

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
17.

Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.

Urhammer SA, Rasmussen SK, Kaisaki PJ, Oda N, Yamagata K, Møller AM, Fridberg M, Hansen L, Hansen T, Bell GI, Pedersen O.

Diabetologia. 1997 Apr;40(4):473-5.

PMID:
9112026
18.

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI.

Diabetes. 1997 Mar;46(3):528-35. Erratum in: Diabetes 1997 Jul;46(7):1239.

PMID:
9032114
19.

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.

20.

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

Takeda J.

Nihon Rinsho. 1998 Sep;56(9):2419-26. Review. Japanese.

PMID:
9780731
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