|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Heterozygous individuals expressing both wildtype and mutant tyrosine kinase-defective insulin receptor precursors demonstrate varying degrees of insulin resistance and diabetes.
|
1316361 |
1992 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Of the 16 pedigrees ascertained for Type 2 diabetes, at least one recombinant event between diabetes and the insulin receptor locus was present in seven pedigrees.
|
1683636 |
1991 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
|
2002058 |
1991 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.
|
2544997 |
1989 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
|
2544998 |
1989 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young.
|
2566545 |
1989 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The technique of homozygosity mapping has been used to demonstrate that the mutation causing diabetes in this consanguineous family is genetically linked to the insulin receptor gene.
|
2573522 |
1989 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sst1 S1(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families.
|
3234633 |
1988 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Newer terminology identifies those uncommon patients with true insulin deficiency as having insulin-dependent diabetes (IDDM), while the majority of patients with diabetes have some residual insulin secretion but may have a disorder of insulin receptor number or affinity.
|
7050215 |
1982 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the insulin receptor gene may lead to insulin resistance and diabetes mellitus in some patients.
|
7714091 |
1995 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
To investigate whether this was associated with a defective insulin receptor kinase, we studied ten of these young (27 +/- 1 years old) non-obese glucose tolerant first degree relatives of patients with Type 2 diabetes and eight matched control subjects with no family history of diabetes.
|
8395436 |
1993 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene.
|
8550844 |
1996 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Specific genetic defects have been identified for rate monogenic forms of NIDDM: maturity-onset diabetes of the young, or MODY (which is due to glucokinase mutations in about 40% of families), syndromes of extreme insulin resistance (which often involve the insulin receptor), and diabetes-deafness syndromes (with defects in mitochondrial genes).
|
8712800 |
1996 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We focused on the insulin receptor gene because of the documented insulin resistance of DM patients.
|
9120013 |
1997 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Taken together, these results suggest that the tyrosine kinase-deficient insulin receptor causes hyperinsulinemia but not diabetes in these homozygous transgenic mice.
|
9388499 |
1997 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The insulin receptor (IR) in two brothers with a rare syndrome of congenital muscle fiber type disproportion myopathy (CFTDM) associated with diabetes and severe insulin resistance was studied.
|
10844410 |
1999 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To evaluate whether hyperglycaemia in two lean patients with primary severe insulin resistance due to insulin receptor (IR) mutations and diabetes mellitus could be reduced by supplement of rosiglitazone for 180 days and secondary, to evaluate the effects on plasma NEFA, TG, Apo B, PAI-1 and serum insulin.
|
11887975 |
2001 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Insulin receptor substrate (IRS)-2 plays an important role in insulin signaling and its disruption results in diabetes in mice.
|
12765968 |
2003 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In muscle from patients with DM1, altered insulin-receptor splicing to the nonmuscle isoform corresponds to the insulin insensitivity and diabetes that are part of the DM phenotype; because of insulin-receptor species differences, this effect is not seen in mouse models of the disease.
|
15114529 |
2004 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, the defects in glucose-induced insulin secretion (Kir6.2KO) and an insulin resistance in muscle and fat (hIR(KM)TG) were not sufficient to lead to overt diabetes.
|
15118262 |
2004 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Diabetes-associated mutations in insulin: consecutive residues in the B chain contact distinct domains of the insulin receptor.
|
15222748 |
2004 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Multivariate logistic regression analysis with adjustment for the prevalence of diabetes mellitus revealed that the 1615G-->A polymorphism of BCHE, the 7,067,365C-->A polymorphism of INSR, the C-->T polymorphism of GPX1, the G-->A polymorphism of ROS1, and the G-->A polymorphism of MMP9 were associated (P<0.05) with in-stent restenosis.
|
17275003 |
2007 |
|
Diabetes Mellitus
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Furthermore, we established an hIRalpha-specific enzyme-linked immunosorbent assay and measured the plasma IRalpha levels in patients with diabetes.
|
17563065 |
2007 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
In human, defects in insulin receptor signaling cause insulin resistance and diabetes, and IGF-1 deficiency is associated with an increased risk of cardiovascular disease and atherosclerosis.
|
18672019 |
2009 |