Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.
|
31102683 |
2019 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson⁻Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form of insulin resistance.
|
29695048 |
2018 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Treatment with glimepiride did not improve insulin sensitivity in a patient with type A insulin resistance syndrome carrying Ile1143Phe heterozygous mutation in the INSR gene.
|
29469970 |
2018 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance.
|
27840822 |
2016 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A previously reported proband with type A insulin resistance syndrome and her younger twin brothers with and without the R1174W missense mutation in the insulin receptor gene were followed for 9 years to study the progression of glucose metabolism, insulin sensitivity, and β-cell function around puberty.
|
24155250 |
2014 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.
|
24468607 |
2014 |
Insulin resistance - type A
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene.
|
20339196 |
2010 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several types of mutations in insulin receptor gene have been identified in patients with type A insulin resistance.
|
20591525 |
2010 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.
|
19135752 |
2009 |
Insulin resistance - type A
|
0.400 |
Biomarker
|
disease |
BEFREE |
Severe insulin resistance resulting from known or putative genetic defects affecting the insulin receptor or post-insulin receptor signalling represents a clinical spectrum ranging from Donohue's and Rabson-Mendenhall syndrome, where the genetic defect is identified, through to the milder phenotype of type A insulin resistance, where a genetic defect can only be detected in around 10% of cases.
|
17785698 |
2007 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance.
|
12970295 |
2003 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance.
|
11260230 |
2001 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Insulin receptor gene mutations are found in extreme Type A insulin resistance but not in moderate forms of insulin resistance (O'Rahilly et al., 1991).
|
9039330 |
1996 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we hypothesize that two findings are necessary for the presentation of type A insulin resistance in this patient: an in-frame deletion of the insulin receptor exon 2 that codes for amino acids crucial for insulin binding: and an inhibition of expression of the paternal insulin receptor allele.
|
8890729 |
1996 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the other mutant allele, there is a missense mutation substituting serine for Asn462-a mutation identified previously in one allele of the insulin receptor gene in a patient with type-A insulin resistance.
|
7860063 |
1995 |
Insulin resistance - type A
|
0.400 |
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 |
Insulin resistance - type A
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
|
8288049 |
1994 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance.
|
8392082 |
1993 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
More recently a series of mutations of the insulin receptor gene have been identified as the cause of the extreme insulin resistance, observed in rare syndromes, such as type A insulin resistance or leprechaunism.
|
1306516 |
1992 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Abnormal messenger ribonucleic acid (mRNA) transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance.
|
1644241 |
1992 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In patients with type A insulin resistance, this has been shown to be due to genetic defects in insulin receptor function.
|
1890161 |
1991 |
Insulin resistance - type A
|
0.400 |
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 |
Insulin resistance - type A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the human insulin receptor gene in a patient with type A insulin resistance alters the amino acid sequence within the tetrabasic processing site of the proreceptor molecule from Arg-Lys-Arg-Arg to Arg-Lys-Arg-Ser.
|
3283938 |
1988 |