(Q42528196)

English

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.

scientific article published on December 1996

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969282%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969282%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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Christele Desbois-Mouthon

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969282%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

C Danan

2

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22 October 2019

S Amselem

3

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22 October 2019

M J Blivet-Van Eggelpoel

4

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22 October 2019

C Sert-Langeron

5

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22 October 2019

M Goossens

6

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22 October 2019

C Besmond

7

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22 October 2019

J Capeau

8

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22 October 2019

M Caron

9

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22 October 2019

publication date

1 December 1996

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22 October 2019

1 reference

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22 October 2019

45

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22 October 2019

12

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22 October 2019

1493-1500

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PubMed publication ID

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22 October 2019

The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

The IRS-1 signaling system

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

New frontiers in insulin receptor substrate signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Leprechaunism: a euphemism for a rare familial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Tyrosine-kinase defect of the insulin receptor in cultured fibroblasts from patients with lipoatropic diabetes.

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Insulin receptor mutation at tyrosines 1162 and 1163 alters both receptor serine phosphorylation and desensitization

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Crystal structure of the tyrosine kinase domain of the human insulin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

A 3-basepair in-frame deletion (delta Leu999) in exon 17 of the insulin receptor gene in a family with insulin resistance

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Mutational analysis of insulin receptor function: consensus and controversy

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Receptors for insulinlike growth factor I are defective in fibroblasts cultured from a patient with leprechaunism

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Defective receptors for platelet-derived growth factor AA in human fibroblasts with mutant insulin receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Functional characterization of hybrid receptors composed of a truncated insulin receptor and wild type insulin-like growth factor 1 or insulin receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2896%2990178-X

7 January 2021

Identifiers

10.1016/S0026-0495(96)90178-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969282%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969282%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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