|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
|
28765322 |
2017 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations identified in familial cases with Donohue syndrome.
|
24498630 |
2014 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
|
22768670 |
2012 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.
|
12538626 |
2003 |
|
Donohue Syndrome
|
|
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 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in inherited severe insulin resistance.
|
12023989 |
2002 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
|
9703342 |
1998 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.
|
9249867 |
1997 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
|
9299395 |
1997 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.
|
8636294 |
1996 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.
|
7538143 |
1995 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.
|
8188715 |
1994 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.
|
7815442 |
1994 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
|
8326490 |
1993 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Activation of glucose transport by a natural mutation in the human insulin receptor.
|
8419945 |
1993 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
|
1607067 |
1992 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.
|
1730625 |
1992 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
|
2365819 |
1990 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.
|
2479553 |
1989 |
|
Donohue Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
|
2834824 |
1988 |
|
Donohue Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|