The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. (Q24538682)

6 July 2017

The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. (English)

1 reference

severe combined immunodeficiency

6 July 2017

1 reference

L Li

1

1 reference

6 July 2017

D Drayna

2

1 reference

6 July 2017

D Hu

3

1 reference

6 July 2017

A Hayward

4

1 reference

6 July 2017

S Gahagan

5

1 reference

6 July 2017

H Pabst

6

1 reference

6 July 2017

M J Cowan

7

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

62

1 reference

6 July 2017

1

1 reference

6 July 2017

136-144

1 reference

Localization of a DNA repair gene (XRCC5) involved in double-strand-break rejoining to human chromosome 2

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Ku80: product of the XRCC5 gene and its role in DNA repair and V(D)J recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Interleukin-7: a cofactor for V(D)J rearrangement of the T cell receptor beta gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

The 1993-94 Généthon human genetic linkage map

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

A comparison of linkage disequilibrium measures for fine-scale mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

An STS-based map of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

The primary immunodeficiencies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Potential targets for autosomal SCID mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

The interleukin-7 receptor gene is at 5p13.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Severe combined immunodeficiencies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

RAG mutations in human B cell-negative SCID.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Chromosomal location and expression of the genes coding for Ku p70 and p80 in human cell lines and normal tissues.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Regional localization of the XRCC4 human radiation repair gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

Noma in children with severe combined immunodeficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376812

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443881

12 December 2020

inferred from PubMed ID database lookup

Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443881

12 December 2020

inferred from PubMed ID database lookup

The recombination activating genes, RAG 1 and RAG 2, are on chromosome 11p in humans and chromosome 2p in mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9443881

12 December 2020

inferred from PubMed ID database lookup

RAG-1-deficient mice have no mature B and T lymphocytes

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301688

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301688

1 reference

6 July 2017

1 reference

6 July 2017

1 reference