Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
|
8532629 |
1995 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism.
|
7535732 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband's clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life.
|
7815442 |
1994 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
About 20 cases of primary receptor mutations (type A syndrome of insulin resistance, leprechaunism and Rabson-Mendenhall syndrome) and 16 cases of autoantibodies against insulin receptor (type B syndrome of insulin resistance) are described in Japan.
|
7859597 |
1994 |
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 |
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 |
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 |
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 |
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 |