Insulin resistance due to mutations of the insulin receptor gene: an overview. (Q35198506)

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13 September 2019

review article

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title

Insulin resistance due to mutations of the insulin receptor gene: an overview (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1291599%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

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1 reference

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13 September 2019

D Accili

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13 September 2019

F Barbetti

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13 September 2019

H Kadowaki

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13 September 2019

T Kadowaki

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13 September 2019

S I Taylor

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13 September 2019

publication date

1 December 1992

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Journal of Endocrinological Investigation

13 September 2019

published in

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13 September 2019

volume

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13 September 2019

issue

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13 September 2019

page(s)

857-864

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Banting lecture 1988. Role of insulin resistance in human disease

13 September 2019

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Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes

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The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.

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Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA.

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Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance

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Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

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Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

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A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman

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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).

21 January 2018

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Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms

21 January 2018

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Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing

21 January 2018

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Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor

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Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene

21 January 2018

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Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH.

21 January 2018

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A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

21 January 2018

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A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface

21 January 2018

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Detection of Mutations in Insulin Receptor Gene by Denaturing Gradient Gel Electrophoresis

21 January 2018

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Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases

21 January 2018

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The amino acid sequence of the insulin receptor is normal in an insulin-resistant Pima Indian

21 January 2018

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Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus

21 January 2018

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Transactivation of the human insulin receptor gene by the CAAT/enhancer binding protein

21 January 2018

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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

21 January 2018

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Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

21 January 2018

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Targeted inactivation of the insulin receptor gene in mouse 3T3-L1 fibroblasts via homologous recombination

21 January 2018

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NIDDM Associated With Mutation in Tyrosine Kinase Domain of Insulin Receptor Gene

21 January 2018

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An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport

21 January 2018

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12 December 2020

Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia

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12 December 2020

A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance

1 reference

12 December 2020

A mutant insulin receptor with defective tyrosine kinase displays no biologic activity and does not undergo endocytosis.

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12 December 2020

Normal insulin-receptor cDNA sequence in Pima Indians with NIDDM

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12 December 2020

Human insulin receptors mutated at the ATP-binding site lack protein tyrosine kinase activity and fail to mediate postreceptor effects of insulin

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12 December 2020

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

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12 December 2020

Diabetes mellitus in the Pima Indians: incidence, risk factors and pathogenesis

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12 December 2020

Dual developments in diabetes

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12 December 2020

A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance

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12 December 2020

A mutation in the extracellular domain of the insulin receptor impairs the ability of insulin to stimulate receptor autophosphorylation

1 reference

12 December 2020

A case of leprechaunism with severe hyperinsulinemia.

1 reference

12 December 2020

Substitution of arginine for histidine at position 209 in the alpha-subunit of the human insulin receptor. A mutation that impairs receptor dimerization and transport of receptors to the cell surface

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12 December 2020

Immunoglobulin heavy chain-binding protein binds to misfolded mutant insulin receptors with mutations in the extracellular domain

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12 December 2020

A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes

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12 December 2020

Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms

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12 December 2020

Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. A mutation that impairs receptor tyrosine kinase activity, receptor endocytosis, and insulin action

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12 December 2020

Identifiers

DOI

10.1007/BF03348820

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1291599%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1291599%20AND%20SRC:MED&resulttype=core&format=json