(Q37675463)

English

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

scientific article published on January 1990

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Statements

scholarly article

1 reference

Europe PubMed Central

21 August 2017

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 (English)

1 reference

Europe PubMed Central

21 August 2017

1 reference

based on heuristic

inferred from title

author name string

Kadowaki T

1

1 reference

Europe PubMed Central

21 August 2017

Kadowaki H

2

1 reference

Europe PubMed Central

21 August 2017

Taylor SI

3

1 reference

Europe PubMed Central

21 August 2017

language of work or name

0 references

publication date

1 January 1990

1 reference

Europe PubMed Central

21 August 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

21 August 2017

87

1 reference

Europe PubMed Central

21 August 2017

658-662

1 reference

Europe PubMed Central

21 August 2017

2

1 reference

Europe PubMed Central

21 August 2017

describes a project that uses

polymerase chain reaction

1 reference

based on heuristic

inferred from title

Insulin receptor biosynthesis in cultured lymphocytes from insulin-resistant patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Structure of the human insulin receptor gene and characterization of its promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

After insulin binds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

23 August 2017

Receptor defects in patients with extreme insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

6 September 2017

Insulin action and inaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

14 September 2017

The molecular basis of hemophilia A in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

14 September 2017

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

25 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

25 June 2018

Insulin-receptor gene and its expression in patients with insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

25 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

25 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

25 June 2018

Cell culture studies on patients with extreme insulin resistance. I. Receptor defects on cultured fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

1 September 2018

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

1 September 2018

Defect in Phosphorylation of Insulin Receptors in Cells from an Insulin-Resistant Patient with Normal Insulin Binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

1 September 2018

Insulin Resistance by Uncleaved Insulin Proreceptor: Emergence of Binding Site by Trypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53324

1 September 2018

Defects in human insulin receptor gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

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/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2300553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.87.2.658

1 reference

Europe PubMed Central

21 August 2017

1990PNAS...87..658K

0 references

1 reference

Europe PubMed Central

21 August 2017

1 reference

Europe PubMed Central

21 August 2017

ResearchGate publication ID

0 references

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