(Q36404053)

English

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

7

object named as

A Fischer

0 references

Marina Cavazzana

3

object named as

M Cavazzana-Calvo

0 references

Despina Moshous

object named as

D Moshous

2

0 references

5

object named as

R de Chasseval

1 reference

Europe PubMed Central

14 August 2017

PMC publication ID

author name string

N Nicolas

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

D Papadopoulo

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

F Le Deist

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

J P de Villartay

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Journal of Experimental Medicine

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

188

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

627-634

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Abnormal rearrangements associated with V(D)J recombination in Fanconi anemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Ku70 Is Required for DNA Repair but Not for T Cell Antigen Receptor Gene Recombination In Vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A newly identified DNA ligase of Saccharomyces cerevisiaeinvolved in RAD52-independent repair of DNA double-strand breaks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Yeast DNA ligase IV mediates non-homologous DNA end joining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Ku70-deficient embryonic stem cells have increased ionizing radiosensitivity, defective DNA end-binding activity, and inability to support V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

The V(D)J recombination defect in the xrs-6 cell line results from a point mutation in the Ku80 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

RAG mutations in human B cell-negative SCID.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Requirement for Ku80 in growth and immunoglobulin V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Ku86 defines the genetic defect and restores X-ray resistance and V(D)J recombination to complementation group 5 hamster cell mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A DNA repair defect in Chinese hamster ovary cells affects V(D)J recombination similarly to the murine scid mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A DNA end-binding factor involved in double-strand break repair and V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Potential targets for autosomal SCID mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A rapid test for V(D)J recombinase activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

VDJ recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Absence of p350 subunit of DNA-activated protein kinase from a radiosensitive human cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

30 September 2017

Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

DNA-PK: at the cross-roads of biochemistry and genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

V(D)J recombination in mammalian cell mutants defective in DNA double-strand break repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

Impairment of V(D)J recombination in double-strand break repair mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

28 June 2018

Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

Isolation of mammalian cell mutants that are X-ray sensitive, impaired in DNA double-strand break repair and defective for V(D)J recombination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

Altered DNA ligase I activity in Bloom's syndrome cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

DNA ligase I deficiency in Bloom's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2213354

21 September 2018

Cell-free V(D)J recombination

1 reference

https://api.crossref.org/works/10.1084%2FJEM.188.4.627

21 January 2018

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9705945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the DNA-binding protein antigen Ku recognized by autoantibodies from patients with rheumatic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/9705945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of a Ku-like DNA end binding activity in the xrs double-strand DNA repair-deficient mutant

1 reference

https://pubmed.ncbi.nlm.nih.gov/9705945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1084/JEM.188.4.627

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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