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Results: 1 to 20 of 451

1.
2.

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.

Diabetologia. 2002 Oct;45(10):1463-7. Epub 2002 Sep 11.

PMID:
12378390
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.

Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S.

Hum Genet. 2005 Nov;118(2):214-24. Epub 2005 Nov 15.

PMID:
16133182
[PubMed - indexed for MEDLINE]
5.

Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.

Thomas H, Badenberg B, Bulman M, Lemm I, Lausen J, Kind L, Roosen S, Ellard S, Hattersley AT, Ryffel GU.

Biol Chem. 2002 Nov;383(11):1691-700.

PMID:
12530534
[PubMed - indexed for MEDLINE]
6.

Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative.

Yamagata K, Yang Q, Yamamoto K, Iwahashi H, Miyagawa J, Okita K, Yoshiuchi I, Miyazaki J, Noguchi T, Nakajima H, Namba M, Hanafusa T, Matsuzawa Y.

Diabetes. 1998 Aug;47(8):1231-5.

PMID:
9703322
[PubMed - indexed for MEDLINE]
7.

Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis.

Xu JY, Chan V, Zhang WY, Wat NM, Lam KS.

Diabetologia. 2002 May;45(5):744-6. Epub 2002 Apr 3.

PMID:
12107757
[PubMed - indexed for MEDLINE]
8.

Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.

Harries LW, Ellard S, Jones RW, Hattersley AT, Bingham C.

Diabetologia. 2004 May;47(5):937-42. Epub 2004 Apr 15.

PMID:
15085338
[PubMed - indexed for MEDLINE]
9.

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.

Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S.

Hum Mol Genet. 2002 Nov 1;11(23):2805-14.

PMID:
12393792
[PubMed - indexed for MEDLINE]
Free Article
10.

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels.

Richter S, Shih DQ, Pearson ER, Wolfrum C, Fajans SS, Hattersley AT, Stoffel M.

Diabetes. 2003 Dec;52(12):2989-95.

PMID:
14633861
[PubMed - indexed for MEDLINE]
Free Article
11.

Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

Ng MC, Cockburn BN, Lindner TH, Yeung VT, Chow CC, So WY, Li JK, Lo YM, Lee ZS, Cockram CS, Critchley JA, Bell GI, Chan JC.

Diabet Med. 1999 Nov;16(11):956-63.

PMID:
10588527
[PubMed - indexed for MEDLINE]
12.

Identification of a new mutation in the hepatocyte nuclear factor-1alpha gene in a Polish family with early-onset type 2 diabetes mellitus.

Malecki MT, Klupa T, Frey J, Cyganek K, Galicka-Stankowska D, Wanic K, Sieradzki J.

Diabetes Nutr Metab. 2001 Oct;14(5):288-91.

PMID:
11806470
[PubMed - indexed for MEDLINE]
13.

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]
14.

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.

Godart F, Bellanné-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanché H, Boutin P, Chèvre JC, Froguel P, Bailleul B.

Hum Mutat. 2000;15(2):173-80.

PMID:
10649494
[PubMed - indexed for MEDLINE]
15.

MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).

Bjørkhaug L, Ye H, Horikawa Y, Søvik O, Molven A, Njølstad PR.

Biochem Biophys Res Commun. 2000 Dec 29;279(3):792-8.

PMID:
11162430
[PubMed - indexed for MEDLINE]
16.

Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta.

Okita K, Yang Q, Yamagata K, Hangenfeldt KA, Miyagawa J, Kajimoto Y, Nakajima H, Namba M, Wollheim CB, Hanafusa T, Matsuzawa Y.

Biochem Biophys Res Commun. 1999 Sep 24;263(2):566-9.

PMID:
10491332
[PubMed - indexed for MEDLINE]
17.

A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.

Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S.

Hum Genet. 1997 Dec;101(3):351-4.

PMID:
9439666
[PubMed - indexed for MEDLINE]
18.

Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3.

Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, Shoelson SE, Lee MS.

Diabetologia. 2003 May;46(5):721-7. Epub 2003 Apr 24.

PMID:
12712243
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
11023148
[PubMed - indexed for MEDLINE]
Free Article
20.

Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript.

De Rosa M, Morelli G, Cesaro E, Duraturo F, Turano M, Rossi GB, Delrio P, Izzo P.

Gene. 2007 Jun 15;395(1-2):8-14. Epub 2007 Jan 12.

PMID:
17360132
[PubMed - indexed for MEDLINE]

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