Insulin receptor

Moller DE et al. (1990) Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.

Okamoto H et al. (2003) In vivo mutagenesis of the insulin receptor.

Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.

Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.

Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.

Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.

Kakehi T et al. (1988) Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance.

Yoshimasa Y et al. (1988) Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.

Kahn CR et al. (1988) The insulin receptor and the molecular mechanism of insulin action.

Lander ES et al. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

Ebina Y et al. (1985) The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling.

Kadowaki T et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

Kahn CR et al. (1989) Molecular defects in insulin action.

Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.

Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

Taira M et al. (1989) Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.

Klinkhamer MP et al. (1989) A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

Moller DE et al. (1988) Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance).

Yamamoto-Honda R et al. (1990) Phosphorylation state and biological function of a mutant human insulin receptor Val996.

Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

Shimada F et al. (1990) Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.

RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia article