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 |
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 |
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 |
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 |
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 |
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 |
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 |
Donohue Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
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 |
Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene.
|
19774849 |
2009 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance.
|
27840822 |
2016 |
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 |
Biomarker
|
disease |
BEFREE |
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism.
|
7535732 |
1994 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
|
26874853 |
2016 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation.
|
26974131 |
2016 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the insulin receptor (<i>INSR</i>) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
|
29082893 |
2018 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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
|
disease |
BEFREE |
Although mutations in the insulin receptor have been causally implicated with leprechaunism, the full pathophysiology of the syndrome cannot be accounted for by malfunction of this gene alone.
|
20033851 |
2010 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with leprechaunism were homozygous or compound heterozygous for mutations in the extracellular domain of the insulin receptor and their cells had markedly impaired insulin binding (<10% of controls).
|
12023989 |
2002 |
Donohue Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.
|
7550226 |
1995 |