Identification of three missense mutations in the peroxisome proliferator-activated receptor α gene in Japanese subjects with maturity-onset diabetes of the young

Journal of Human Genetics

Volumn 46, Issue 5, 2001, Pages 285-288

  Hara, M ^a   Wang, X ^a   Paz, V P ^a   Iwasaki, N ^b   Honda, M ^c   Iwamoto, Y ^b   Bell, G I ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Department of Neurosurgery   (Japan)

Author keywords

Allelic association; Diabetes mellitus; Missense mutation; Peroxisome proliferator activated receptor; PPAR

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR;

ADULT; ALLELISM; ARTICLE; CHROMOSOME 22; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; JAPAN; MAJOR CLINICAL STUDY; MALE; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; AGE OF ONSET; ALLELES; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DIABETES MELLITUS, TYPE 2; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 0035043676     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170080     Document Type: Article

References (11)

1. Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects
2. The DNA sequence of human chromosome 22
3. Maturity-onset diabetes of the young: A model for genetic studies of diabetes mellitus
4. Organization and partial sequence of the hepatocyte nuclear factor-4α/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY
5. β-Cell transcription factors and diabetes: No evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY
6. Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
7. Regulation of the transcriptional activity of the peroxisome proliferator-activated receptor α by phosphorylation of a ligand-independent trans-activating domain
8. Mutation screening of the PPARα gene in type 2 diabetes associated with coronary heart disease
9. Nonsense mutation of islet-1 gene (Q310X) found in type 2 diabetic patient with a strong family history
10. Medical significance of peroxisome proliferator-activated receptors
11. Role of peroxisome proliferator-activated receptor α in disease of pancreatic β cells