|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
|
28765322 |
2017 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
|
12970295 |
2003 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.
|
12107746 |
2002 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.
|
11260230 |
2001 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.
|
10733238 |
2000 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.
|
9175790 |
1997 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
|
8288049 |
1994 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
|
8314008 |
1994 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.
|
8243830 |
1993 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382.
|
8388389 |
1993 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms.
|
1563582 |
1992 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.
|
2002058 |
1991 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
|
2365819 |
1990 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.
|
2168397 |
1990 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.
|
1963473 |
1990 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
|
2544998 |
1989 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.
|
3283938 |
1988 |
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|