Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8699
|
| pubmed:dateCreated |
1990-6-18
|
| pubmed:abstractText |
The insulin-receptor genes from a 16-year-old girl with type A insulin resistance, who presented with fasting hyperinsulinaemia, acanthosis nigricans, and reduced insulin binding, and from her family were examined. One allele of her insulin-receptor gene inherited from her mother contained a 1.2 kb deletion arising from a recombination between two Alu elements. The deletion removed the 14th exon in the beta subunit and altered the reading frame, to produce a stop codon after aminoacid 867. Pedigree analysis indicated that this mutation alone will not cause diabetes, and the proband is possibly a compound heterozygote. 4 other members of her family were heterozygous for the same mutation; all 4 had a decrease in insulin binding and slight impairment of glucose tolerance. Perhaps the same mutation is an underlying feature of some cases of non-insulin-dependent diabetes mellitus.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0140-6736
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
19
|
| pubmed:volume |
335
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
1179-81
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:1971035-Adolescent,
pubmed-meshheading:1971035-Adult,
pubmed-meshheading:1971035-Aged,
pubmed-meshheading:1971035-Alleles,
pubmed-meshheading:1971035-Chromosome Deletion,
pubmed-meshheading:1971035-Chromosome Mapping,
pubmed-meshheading:1971035-DNA,
pubmed-meshheading:1971035-Diabetes Mellitus,
pubmed-meshheading:1971035-Exons,
pubmed-meshheading:1971035-Female,
pubmed-meshheading:1971035-Glucose Tolerance Test,
pubmed-meshheading:1971035-Heterozygote Detection,
pubmed-meshheading:1971035-Humans,
pubmed-meshheading:1971035-Insulin Resistance,
pubmed-meshheading:1971035-Male,
pubmed-meshheading:1971035-Mutation,
pubmed-meshheading:1971035-Pedigree,
pubmed-meshheading:1971035-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1971035-Receptor, Insulin,
pubmed-meshheading:1971035-Recombination, Genetic
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.
|
| pubmed:affiliation |
Second Department of Internal Medicine, University School of Medicine, Chiba, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|