|
Abdomen distended
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal C-peptide level
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of the abdominal wall
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the thyroid gland
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of the upper urinary tract
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition to being a target for androgens the skin has abundant insulin receptors on the keratinocyte surface membrane and acanthosis nigricans is a common symptom of severe insulin resistance among patients with insulin receptor disorders.
|
11595827 |
2000 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have used DGGE to screen for mutations in the insulin receptor gene in a family in which four of five daughters were affected by type A insulin resistance in association with acanthosis nigricans and hyperandrogenism.
|
8175972 |
1994 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor.
|
31827016 |
2019 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans.
|
1588128 |
1992 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism.
|
27505086 |
2016 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans with high fasting insulin levels in the proband suggested severe insulin resistance and prompted INSR gene sequencing, which revealed the novel, heterozygous p.Phe1213Leu mutation in the patient and his family members.
|
29411486 |
2018 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
By contrast, a larger group of insulin-resistant patients who were obese with hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN syndrome) did not have a high probability of mutations in the insulin receptor.
|
15232309 |
2004 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Defects in the insulin receptor gene causing insulin resistance and AN are well recognized, but recent data in several other syndromes of this association, including lipodystrophic disorders, have identified causative defects in other pathways.
|
12452857 |
2002 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).
|
23824322 |
2013 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans.
|
2544997 |
1989 |
|
Acanthosis Nigricans
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Defect in tyrosine kinase activity of the insulin receptor from a patient with insulin resistance and acanthosis nigricans.
|
2180980 |
1990 |
|
Acanthosis Nigricans
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans.
|
12107746 |
2002 |
|
Acute Confusional Senile Dementia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Long-term oral galactose treatment prevents cognitive deficits in male Wistar rats treated intracerebroventricularly with streptozotocin.
|
24055495 |
2014 |
|
Acute GVH disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The observed impairments proved to be decisive in vivo because silencing of the INSR attenuated clinical symptoms in animal models of acute graft-versus-host disease and multiple sclerosis.
|
28115529 |
2017 |
|
Acute lymphocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Consequently, the c-ets-1 gene and the INSR gene remain separated in the AML case, whereas they become close to each other in the two ALL cases.
|
2741924 |
1989 |
|
Addictive Behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Across multiple samples (n = 4502), the biologically informed, mesocorticolimbic or hippocampal specific insulin receptor polygenic scores were calculated, and their ability to predict impulsivity, risk for addiction, cognitive performance and presence of Alzheimer's disease was investigated.
|
30922963 |
2019 |
|
Adenocarcinoma
|
0.040 |
AlteredExpression
|
group |
BEFREE |
Moreover, its expression significantly correlated with (a) the morphological/histopathological subtype of NSCLC, being more frequent in adenocarcinomas; (b) the grade of tumor differentiation, displaying an increase in low-grade carcinomas; (c) tumor size, occurring predominantly in smaller tumors; (d) the presence of phosphorylated, activated insulin receptor; (e) the median patient age, being present in relatively younger individuals.
|
19688775 |
2009 |
|
Adenocarcinoma
|
0.040 |
Biomarker
|
group |
BEFREE |
RNA-seq data from 614 NSCLC [355 adenocarcinomas (LUAD) and 259 squamous cell carcinomas (LUSC)] and 92 normal lung specimens were obtained from The Cancer Genome Atlas (TCGA) to evaluate the mRNA expression of insulin receptor isoform A (IR-A) and insulin receptor isoform B (IR-B).
|
24571613 |
2014 |
|
Adenocarcinoma
|
0.040 |
Biomarker
|
group |
BEFREE |
We tested human insulin; the super-mitogenic insulin, X10 and insulin-like growth factor I, in four cancer cell lines with a range of insulin-like growth factor-I receptor (IGF-IR)/IR (insulin receptor) ratios (HCT 116, HT-29, COLO 205 and MCF7) and related these to IGF-IR and IR expression in 17 human adenocarcinomas.
|
26026165 |
2015 |