R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family [2]

Diabetologia

Volumn 43, Issue 9, 2000, Pages 1203-

  Bulman, M P ^a   Ellard, S ^a   Hattersley, A T ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR; NUCLEAR FACTOR 4 ALPHA; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; DNA BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 4; HNF4A PROTEIN, HUMAN; MLX PROTEIN, HUMAN; PHOSPHOPROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; CAUCASIAN; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC POLYMORPHISM; HUMAN; LETTER; MALE; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SCHOOL CHILD; UNITED KINGDOM; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL; GENETIC LINKAGE; GENETICS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CONSERVED SEQUENCE; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GREAT BRITAIN; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; LOD SCORE; MALE; MUTATION, MISSENSE; PEDIGREE; PHOSPHOPROTEINS; TRANSCRIPTION FACTORS;

EID: 0033811740     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250051514     Document Type: Letter

References (4)

1. R127W-HNF-4 alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1
2. Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q)
3. Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree
4. Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY