|
Diabetes
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
|
2002058 |
1991 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.
|
2544997 |
1989 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
|
2544998 |
1989 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene.
|
8550844 |
1996 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Insulin receptor substrate (IRS)-2 plays an important role in insulin signaling and its disruption results in diabetes in mice.
|
12765968 |
2003 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
Biomarker
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Diabetes-associated mutations in insulin: consecutive residues in the B chain contact distinct domains of the insulin receptor.
|
15222748 |
2004 |
|
Diabetes
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, we established an hIRalpha-specific enzyme-linked immunosorbent assay and measured the plasma IRalpha levels in patients with diabetes.
|
17563065 |
2007 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
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 |
|
Diabetes
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Importantly, this phenotype was reversible (i.e., discontinuation of Dox treatment led to INSR re-expression and remission of diabetes symptoms).
|
19017805 |
2008 |
|
Diabetes
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mice with combined APP overexpression and diabetes showed a decreased insulin receptor activity and an increased GSK3beta activity.
|
19931251 |
2010 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Insulin, insulinlike growth factor 1, and insulinlike growth factor 2 signaling through the insulin receptor and the insulinlike growth factor 1 receptor can induce tumorigenesis, accounting to some extent for the link between diabetes, obesity, and cancer.
|
20841312 |
2011 |
|
Diabetes
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, differential expression of INSR isoforms represents a potential biological link between BC and diabetes.
|
21913804 |
2011 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The "T" allele of the His1085His polymorphism in the INSR gene shows significant protection against diabetes.
|
22775283 |
2012 |