|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2008-5-30
|
|
pubmed:abstractText |
Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor (HNF)-4alpha are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic beta-cells. HNF-4alpha has a key role in regulating the multiple transcriptional factor networks in the islet. Recently, heterozygous mutations in the HNF4A gene were reported to cause transient hyperinsulinemic hypoglycemia associated with macrosomia.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1939-327X
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
57
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1659-63
|
|
pubmed:meshHeading |
pubmed-meshheading:18268044-Age of Onset,
pubmed-meshheading:18268044-Birth Weight,
pubmed-meshheading:18268044-DNA Transposable Elements,
pubmed-meshheading:18268044-Diabetes Mellitus, Type 2,
pubmed-meshheading:18268044-Female,
pubmed-meshheading:18268044-Fetal Macrosomia,
pubmed-meshheading:18268044-Frameshift Mutation,
pubmed-meshheading:18268044-Hepatocyte Nuclear Factor 4,
pubmed-meshheading:18268044-Heterozygote Detection,
pubmed-meshheading:18268044-Humans,
pubmed-meshheading:18268044-Hyperinsulinism,
pubmed-meshheading:18268044-Hypoglycemia,
pubmed-meshheading:18268044-Infant,
pubmed-meshheading:18268044-Infant, Newborn,
pubmed-meshheading:18268044-Male,
pubmed-meshheading:18268044-Mutation,
pubmed-meshheading:18268044-Pedigree,
pubmed-meshheading:18268044-Sequence Deletion
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
|
|
pubmed:affiliation |
London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and The Institute of Child Health, University College London, London, UK.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
