Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
In this study we analyze insulin binding and subunit structure of the insulin receptor in dermal fibroblasts cultured from three unrelated families whose probands (Ark-1, Atl, and Minn) were affected by leprechaunism.
|
3631076 |
1987 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding.
|
2834824 |
1988 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding.
|
2834824 |
1988 |
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 |
UNIPROT |
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.
|
2479553 |
1989 |
Donohue Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Although leprechaunism and type A syndrome are most likely due to defects in the structure and expression of the insulin-receptor gene, they are likely to be associated with specific point mutations rather than major changes in gene structure.
|
2562832 |
1989 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, we have biochemically characterized a new family of leprechaunism (Ark-2) and have found insulin receptor phosphorylation defects in their phenotypically normal parents.
|
2569023 |
1989 |
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 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Donohue Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In one patient with leprechaunism (leprechaun/Minn-1), there is greater than 90% decrease in the levels of insulin-receptor mRNA.
|
1968373 |
1990 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor gene have been described in families with the inherited insulin-resistant syndrome leprechaunism.
|
2157428 |
1990 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children.
|
1931997 |
1991 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31.
|
1730625 |
1992 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied.
|
1607067 |
1992 |
Donohue Syndrome
|
0.800 |
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 |
Donohue Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
These studies therefore raise the possibility that the phenotypic expression of leprechaunism results from defects in the expression of both the IR and the EGFR.
|
1316988 |
1992 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied.
|
1607067 |
1992 |
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 |
GeneticVariation
|
disease |
BEFREE |
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.
|
8101305 |
1993 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
|
8326490 |
1993 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this investigation, we have identified a one year-old boy from a consanguineous pedigree who is homozygous for deletion of the insulin receptor gene resulting in leprechaunism.
|
7693131 |
1993 |