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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.

• Authors : Harries LW; Institute of Biomedical and Clincal Sciences, Peninsula Medical School, Barrack Road, Exeter, Devon, UK. ; Ellard S

Subjects: Mutation*; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics ; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*metabolism

• Source: Human molecular genetics [Hum Mol Genet] 2006 Jul 15; Vol. 15 (14), pp. 2216-24. Date of Electronic Publication: 2006 Jun 07.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print

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Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

• Authors : Kaci A; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Haukelandsbakken 1, Bergen 5020, Norway.; Center for Laboratory Medicine, Østfold Hospital Trust, Kalnesveien 300, Grålum 1714, Norway.

Subjects: Hepatocyte Nuclear Factor 4*/Hepatocyte Nuclear Factor 4*/Hepatocyte Nuclear Factor 4*/genetics ; Hepatocyte Nuclear Factor 4*/Hepatocyte Nuclear Factor 4*/Hepatocyte Nuclear Factor 4*/metabolism ; Promoter Regions, Genetic* Mason-Type Diabetes

• Source: Human molecular genetics [Hum Mol Genet] 2024 May 04; Vol. 33 (10), pp. 894-904.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

• Authors : Sharapov SZ; Institute of Cytology and Genetics SB RAS, Prospekt Lavrentyeva 10, Novosibirsk, Russia.; Novosibirsk State University, 1, Pirogova str., Novosibirsk, Russia.

Subjects: Fucosyltransferases/Fucosyltransferases/Fucosyltransferases/*genetics ; Glycosyltransferases/Glycosyltransferases/Glycosyltransferases/*genetics ; Polysaccharides/Polysaccharides/Polysaccharides/*blood

• Source: Human molecular genetics [Hum Mol Genet] 2019 Jun 15; Vol. 28 (12), pp. 2062-2077.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

• Authors : Schick UM; Auer PL ...

Subjects: Exome*; C-Reactive Protein/C-Reactive Protein/C-Reactive Protein/*genetics ; C-Reactive Protein/C-Reactive Protein/C-Reactive Protein/*metabolism

• Source: Human molecular genetics [Hum Mol Genet] 2015 Jan 15; Vol. 24 (2), pp. 559-71. Date of Electronic Publication: 2014 Sep 03.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium:

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T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

• Authors : Lewinsky RH; Department of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Denmark.; Jensen TG

Subjects: Polymorphism, Genetic*; Lactase/Lactase/Lactase/*genetics ; Octamer Transcription Factor-1/Octamer Transcription Factor-1/Octamer Transcription Factor-1/*metabolism

• Source: Human molecular genetics [Hum Mol Genet] 2005 Dec 15; Vol. 14 (24), pp. 3945-53. Date of Electronic Publication: 2005 Nov 21.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print

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Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

• Authors : Kishnani PS; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.; Chuang TP

Subjects: Chromosome Aberrations*; Adenoma, Liver Cell/Adenoma, Liver Cell/Adenoma, Liver Cell/*genetics ; Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/*genetics

• Source: Human molecular genetics [Hum Mol Genet] 2009 Dec 15; Vol. 18 (24), pp. 4781-90. Date of Electronic Publication: 2009 Sep 16.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium:

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Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

• Authors : Rebouissou S; Inserm U674, CEPH, IUH Saint-Louis, Paris, France.; Vasiliu V

Subjects: Carcinoma, Renal Cell/Carcinoma, Renal Cell/Carcinoma, Renal Cell/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Nuclear Proteins/Nuclear Proteins/Nuclear Proteins/*genetics

• Source: Human molecular genetics [Hum Mol Genet] 2005 Mar 01; Vol. 14 (5), pp. 603-14. Date of Electronic Publication: 2005 Jan 13.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print

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

• Authors : Vaxillaire M; CNRS EP10, Institut Pasteur de Lille & CHU de Lille, France.; Rouard M

Subjects: DNA-Binding Proteins* ; Mutation*; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics

• Source: Human molecular genetics [Hum Mol Genet] 1997 Apr; Vol. 6 (4), pp. 583-6.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN:

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Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia.

• Authors : Berg LP; Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.; Scopes DA

Subjects: Nuclear Proteins*; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Liver/Liver/Liver/*metabolism

• Source: Human molecular genetics [Hum Mol Genet] 1994 Dec; Vol. 3 (12), pp. 2147-52.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN:

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Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification.

• Authors : McCarthy, Mark I.

• Source: Human Molecular Genetics; 2004, Vol. 13 Issue suppl_1, pR33-R41, 1p

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