Identification and functional analysis of mutations in the hepatocyte nuclear factor-1α gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 1, 2000, Pages 331-335

  Kawasaki, Eiji ^a   Sera, Yasunori ^a   Yamakawa, Kenichi ^a   Abe, Takahiro ^a   Ozaki, Masako ^a   Uotani, Shigeo ^a   Ohtsu, Nariyuki ^b   Takino, Hirofumi ^a   Yamasaki, Hironori ^a   Yamaguchi, Yoshihiko ^a   Matsuura, Nobuo ^b   Eguchi, Katsumi ^a  

^a NAGASAKI UNIVERSITY   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AUTOANTIBODY; GLUTAMATE DECARBOXYLASE; INSULIN; NUCLEAR FACTOR I;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE DISEASE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; JAPAN; MAJOR CLINICAL STUDY; MALE; MATURITY ONSET DIABETES MELLITUS; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; ISLETS OF LANGERHANS; JAPAN; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS;

EID: 17744393213     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.1.331     Document Type: Article

References (32)

1. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
2. Definition, diagnosis and classification of diabetes mellitus and its complications. I. Diagnosis and classification of diabetes mellitus provisional report of a WHO consultation
3. Type I diabetes mellitus: A chronic autoimmune disease
4. Scope and heterogeneous nature of MODY
5. Maturity-onset diabetes of the young (MODY). MODY genes and non-insulin-dependent diabetes mellitus
6. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young
7. Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus
8. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young
9. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
10. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY
11. Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20
12. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect
13. Genetic analysis of HLA class II alleles and susceptibility to type I (insulin-dependent) diabetes mellitus in Japanese subjects
14. Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: Evidence for a mutational hotspot in exon 4
15. A rapid screening method for hepatocyte nuclear factor 1α frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes
16. Autoantibodies to multiple islet autoantigens in patients with abrupt onset type 1 diabetes and diabetes diagnosed with urinary glucose screening
17. Autoantibodies to protein tyrosine phosphatase-like proteins in type I diabetes: Overlapping specificities to phogrin and ICA512/LA-2
18. Identification and characterization of two enhancers of the human albumin gene
19. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1 α gene
20. Genetic variation in the hepatocyte nuclear factor-1α gene in Danish Caucasians with late-onset NIDDM
21. 574Ser in the transcription factor HNF-1α is a marker of atypical diabetes mellitus in African-American children
22. Trans-dominant inhibition of transcription activator LFB1
23. Prediction of type I diabetes in first-degree relatives using a combination of insulin. GAD, and ICA512bdc/IA-2 autoantibodies
24. Combined analysis of autoantibodies improves prediction of IDDM in islet cell antibody-positive relatives
25. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
26. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q
27. Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM
28. Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having type I diabetes
29. HNF1, a homeoprotein member of the hepatic transcription regulatory network
30. The HNF-1 C-terminal domain contributes to transcriptional activity and modulates nuclear localisation
31. A transcriptional hierarchy involved in mammalian cell-type specification