|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The usefulness of these adaptations is illustrated by their application to the simultaneous detection of three point mutations, two in the tyrosine kinase domain of the insulin receptor and one in the insulin-responsive glucose transporter (GLUT4) in a highly insulin-resistant NIDDM population.
|
1301912 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Accordingly, it is likely that mutations in the insulin-receptor gene may be a contributory cause of insulin resistance in a subpopulation with NIDDM.
|
1327927 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neither inspection of individual pedigree log of odds scores nor formal tests of heterogeneity suggested a subgroup in which linkage of NIDDM and insulin-receptor gene was likely.
|
1348997 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
[Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes].
|
1470163 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
The possibility that the insulin receptor and GLUT4 may be candidate genes for inherited insulin resistance in NIDDM has been addressed with the aid of genetic screening techniques such as SSCP.
|
1499871 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have recently examined the exons encoding the insulin receptor tyrosine kinase domain and GLUT 4 in 30 subjects with Type 2 (non-insulin-dependent) diabetes mellitus using a molecular scanning approach.
|
1521731 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a mutation in the insulin receptor gene in a patient with a moderate degree of insulin resistance associated with morbid obesity suggests that insulin receptor mutations may exist in patients with Type 2 (non-insulin-dependent) diabetes mellitus associated with a moderate degree of insulin resistance.
|
1563582 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.
|
1607076 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.
|
1607076 |
1992 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to elucidate whether structural defects in the insulin receptor could be a primary cause of insulin resistance in NIDDM, we analyzed the insulin-receptor cDNA sequence in a subject with NIDDM who is also homozygous for this RFLP.
|
1671379 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The significance of insulin receptor gene variants in the aetiology of Type 2 (non-insulin-dependent) diabetes mellitus has been investigated by analysis of restriction fragment length polymorphisms in a genetically homogeneous Swedish population.
|
1676686 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Each pedigree was initially examined with insulin receptor restriction fragment length polymorphisms to determine whether any allele segregated with Type 2 diabetes in these pedigrees.
|
1683636 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We report here a tissue-specific alteration of the insulin receptor RNA splice pattern in non-insulin-dependent diabetes mellitus (NIDDM) patients.
|
1711209 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
From these studies, we conclude that the insulin resistance seen in the great majority of subjects with the common form of NIDDM is not due to genetic variation in the coding sequence of the IR beta subunit, nor to any single mutation in the GLUT-4 gene.
|
1918382 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
Defects in insulin-receptor function have been associated with insulin-resistant states such as obesity and non-insulin-dependent diabetes mellitus (NIDDM).
|
1968373 |
1990 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population.
|
1978826 |
1990 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate the potential of the technique for screening many patients, the 5 exons that encode the tyrosine kinase domain of the insulin receptor were examined in 30 unrelated white subjects with non-insulin-dependent diabetes mellitus (NIDDM).
|
2040394 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Insulin receptor gene polymorphisms in type 2 (non-insulin-dependent) diabetes mellitus.
|
2065860 |
1991 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The analysis of the INSR locus revealed "protective" haplotypes, and it may be possible to use two of the INSR haplotypes as genetic markers to identify individuals having a very low probability of developing NIDDM regardless of the presence of other genes conferring susceptibility to this disorder.
|
2562831 |
1989 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
Because the nature and location of the insertion did not suggest a role in insulin-receptor function, the association of this RFLP with NIDDM and hyperinsulinemia was reexamined in a small sample of Whites.
|
2566545 |
1989 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We therefore characterized restriction-fragment-length polymorphisms of the insulin-receptor gene with the restriction enzyme Rsa 1 in 242 Mexican Americans and non-Hispanic Whites with type II diabetes and 202 age-, sex-, and ethnicity-matched control subjects who participated in a population-based study in San Antonio.
|
2568958 |
1989 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
To directly address the question of potential insulin-receptor genetic defects in Pima Indians, we isolated and sequenced insulin-receptor cDNA from two Pima Indians with NIDDM.
|
2620783 |
1989 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
We investigated intracellular processing of the insulin-receptor complex in monocytes from 12 healthy control subjects, 11 obese nondiabetic subjects, and 13 obese patients with non-insulin-dependent diabetes mellitus (NIDDM) by measuring receptor internalization, recovery of cell-surface insulin binding after receptor internalization, and the release of intracellular intact insulin (insulin retroendocytosis).
|
2684714 |
1989 |