Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.
|
8188715 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlation in inherited severe insulin resistance.
|
12023989 |
2002 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
|
8288049 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism.
|
2574533 |
1989 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin.
|
8702527 |
1996 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain.
|
18411068 |
2008 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance.
|
7815442 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations were looked for in the insulin receptor gene of a four-month-old female baby with leprechaunism.
|
25465274 |
2015 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Activation of glucose transport by a natural mutation in the human insulin receptor.
|
8419945 |
1993 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To evaluate whether alterations in insulin receptor kinase of erythrocytes can be used as genetic markers, we studied patients with two apparently inherited conditions of severe insulin resistance (leprechaunism and the type A syndrome of insulin resistance) and their families.
|
3029156 |
1987 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We studied the structure and function of the insulin receptor (IR) in two sisters with leprechaunism.
|
8636294 |
1996 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance.
|
12970295 |
2003 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
|
8606887 |
1995 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
|
9299395 |
1997 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation.
|
23229189 |
2013 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.
|
7962321 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene.
|
25153212 |
2014 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
|
9703342 |
1998 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
|
28765322 |
2017 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features.
|
24498630 |
2014 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that in this family two different recessive mutations impair high-affinity insulin-receptor binding and that the proband with leprechaunism is a compound heterozygote for these mutations.
|
3883764 |
1985 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.
|
2365819 |
1990 |