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Donohue Syndrome

Known as: leprechaunism syndrome, Donohue Syndrome [Disease/Finding], Leprechaunisms 
Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include… 
National Institutes of Health

Related topics

Related topics

29 relations
Acanthosis NigricansAutosomal recessive inheritanceCholestasisClitoral hypertrophy

Papers overview

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Highly Cited
2007
Highly Cited
2007
Implicational Paradoxes and the Meaning of Logical Constants
I discuss paradoxes of implication in the setting of a proof-conditional theory of meaning for logical constants. I argue that a… 
2005
2005
Impaired generation of reactive oxygen species in leprechaunism through downregulation of Nox4.
Leprechaunism features a clinical constellation characterized by extreme insulin resistance, growth retardation, and several… 
Highly Cited
1998
Highly Cited
1998
Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism.
Leprechaunism is the most severe form of insulin resistance, manifesting with abnormal glucose metabolism and retarded growth. In… 
Highly Cited
1992
Highly Cited
1992
Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.
Leprechaunism is an autosomal recessive syndrome of severe insulin resistance and is characterized by intrauterine growth… 
1989
1989
Human insulin receptor radioimmunoassay: applicability to insulin-resistant states.
A radioimmunoassay of the human insulin receptor was developed employing a potent rabbit polyclonal antibody to the human insulin… 
1988
1988
Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization.
Insulin receptor function was examined in cultured skin fibroblasts from three patients with leprechaunism (Ark-1, Minn-1, and… 
Highly Cited
1985
Highly Cited
1985
Leprechaunism: an inherited defect in a high-affinity insulin receptor.
We examined in vivo oral glucose tolerance tests and in vitro insulin binding, cellular response, and insulin-receptor structure… 
Highly Cited
1982
Highly Cited
1982
Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C.
Leprechaunism is a rare inherited disorder characterized by severe intrauterine growth retardation and insulin resistance… 
Highly Cited
1982
Highly Cited
1982
Extreme insulin resistance in association with abnormally high binding affinity of insulin receptors from a patient with leprechaunism: evidence for a defect intrinsic to the receptor.
Previously, we have identified novel abnormalities in insulin binding to cultured lymphocytes from a patient (leprechaun/Ark-1… 
Highly Cited
1981
Highly Cited
1981
Stimulation of glucose incorporation and amino acid transport by insulin and an insulin-like growth factor in fibroblasts with defective insulin receptors cultured from a patient with leprechaunism.
Fibroblasts cultured from an infant with leprechaunism and insulin resistance have been reported to exhibit profound, selective… 
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