(Q54180582)

English

Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462.

scientific article published in February 1995

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scholarly article

1 reference

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27 October 2019

Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462 (English)

1 reference

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27 October 2019

insulin resistance

1 reference

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Michael J. Quon

5

1 reference

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27 October 2019

Alessandro Cama

1

1 reference

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27 October 2019

author name string

M L Sierra

2

1 reference

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27 October 2019

T Kadowaki

3

1 reference

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27 October 2019

H Kadowaki

4

1 reference

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27 October 2019

H W Rüdiger

6

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27 October 2019

M Dreyer

7

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27 October 2019

S I Taylor

8

1 reference

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27 October 2019

publication date

1 February 1995

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27 October 2019

1 reference

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27 October 2019

95

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27 October 2019

2

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27 October 2019

174-182

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27 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00209397

0 references

Endocrine-metabolic relationships in patients with leprechaunism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of insulin receptors in patients with the syndromes of insulin resistance and acanthosis nigricans

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of a metallothionein-growth hormone hybrid gene in bovine papilloma virus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postbinding characterization of five naturally occurring mutations in the human insulin receptor gene: impaired insulin-stimulated c-jun expression and thymidine incorporation despite normal receptor autophosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutagenesis of lysine 460 in the human insulin receptor. Effects upon receptor recycling and cooperative interactions among binding sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel human insulin receptor gene mutation uniquely inhibits insulin binding without impairing posttranslational processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased insulin binding in cultured lymphocytes from two patients with extreme insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the insulin receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insulin receptor degradation is accelerated in cultured lymphocytes from patients with genetic syndromes of extreme insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sequence conserved in both the chicken and mouse alpha 2(I) collagen promoter contains sites sensitive to S1 nuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00209397

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860063%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860063%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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