Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young

Human Mutation

Volumn 16, Issue 5, 2000, Pages 377-385

  Ellard, Sian ^a,b  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Hepatocyte nuclear factor 1 alpha; HNF 1 ; HNF1A; Maturity onset diabetes of the young; MODY; TCF1; Transcription factor 1

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4 ALPHA; INSULIN PROMOTER FACTOR 1; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; DIFFERENTIAL DIAGNOSIS; EXON; GENE INSERTION; GENE MUTATION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MATURITY ONSET DIABETES MELLITUS; ONSET AGE; PANCREAS ISLET BETA CELL; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

ADULT; ANIMALS; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS;

EID: 0033752712     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<377::AID-HUMU1>3.0.CO;2-2     Document Type: Review

References (50)

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5. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor 1 beta
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9. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
10. The nature and mechanisms of human gene mutation
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12. Deletion and insertion mutations in short tandem repeats in the coding regions of human genes
13. Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1a gene in typical familial type 2 diabetes: Evidence for novel mutations in exons 8 and 10
14. Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1 alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young
15. Hepatocyte nuclear factor 1 alpha is expressed in a hamster insulinoma line and transactivates the rat insulin I gene
16. Mutations in the hepatocyte nuclear factor 1 alpha gene are a common cause of maturity-onset diabetes of the young in the United Kingdom
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28. The hepatic nuclear factor-1α G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree
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32. Mutations in the hepatocyte nuclear factor-1a gene in diabetic patients initially classified as having type 1 idiopathic diabetes
33. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
34. Mutations in the hepatocyte nuclear factor-1 alpha gene in Caucasian families originally classified as having Type 1 diabetes
35. Identification of new mutations in the TCF-1 and TCF-14 genes in Mexican patients with early onset type 2 diabetes
36. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal fanconi syndrome
37. Hyperexcitability to sulphonylurea in MODY3
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43. Four novel mutations of HNF-4 alpha gene in Japanese diabetic patients with familial inheritance
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49. Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1 alpha is dominant negative
50. Three new mutations in the hepatocyte nuclear factor-1a gene in Japanese subjects with diabetes mellitus: Clinical features and functional characterization