Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro

Diabetic Medicine

Volumn 27, Issue 6, 2010, Pages 631-635

  Wirsing, A ^a   Johnstone, K A ^b   Harries, L W ^b   Ellard, S ^b   Ryffel, G U ^a   Stanik, J ^c,d   Gasperikova, D ^c,e   Klimes, I ^c,e   Murphy, R ^f  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF EXETER   (United Kingdom)

^c INSTITUTE OF EXPERIMENTAL ENDOCRINOLOGY   (Slovakia)

^d Faculty of Medicine of Comenius University and University Hospital Bratislava   (Slovakia)

^e INSTITUTE OF CHEMISTRY   (Slovakia)

^f UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

Alpha; Hepatocyte nuclear factor 4; MODY; Monogenic cell diabetes; Transfection assay

Indexed keywords

ADENINE; CYTOSINE; GLIBENCLAMIDE; GLICLAZIDE; GLUCOSE; GUANINE; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 4; INSULIN; LUCIFERASE; METFORMIN; QUINAPRIL; SULFONYLUREA DERIVATIVE; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIRTH WEIGHT; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRANSFECTION; HUMAN; HYPERTENSION; HYPOGLYCEMIA; IN VITRO STUDY; MALE; MULTIGENE FAMILY; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PANCREAS ISLET BETA CELL; PATHOGENESIS; PATIENT COMPLIANCE; PHENOTYPE; PROMOTER REGION; REPORTER GENE; TREATMENT OUTCOME;

AGE OF ONSET; DIABETES MELLITUS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MALE; MUTATION; PEDIGREE; PROMOTER REGIONS, GENETIC; TRANSFECTION;

EID: 77952734628     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2010.03003.x     Document Type: Article

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