Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency (Q34999354)

5 August 2017

title

Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency (English)

1 reference

5 August 2017

2

Jacek Puchałka

1 reference

5 August 2017

Christian Barthels

1

1 reference

5 August 2017

Tomas Racek

series ordinal

3

1 reference

5 August 2017

Christoph Klein

series ordinal

4

1 reference

5 August 2017

Thomas Brocker

series ordinal

5

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5 August 2017

language of work or name

English

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publication date

17 September 2013

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5 August 2017

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5 August 2017

volume

8

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5 August 2017

issue

9

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5 August 2017

page(s)

e74838

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

17 September 2013

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April 2022 Public Data File from Crossref

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

DNA-PKcs deficiency in human: long predicted, finally found.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Human and animal models of V(D)J recombination deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Defective DNA repair and increased genomic instability in Artemis-deficient murine cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Organization of thymic medullary epithelial heterogeneity: implications for mechanisms of epithelial differentiation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

The RAG proteins and V(D)J recombination: complexes, ends, and transposition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Interaction of Ku protein and DNA-dependent protein kinase catalytic subunit with nucleic acids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

The thymic microenvironment.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Crosstalk in the mouse thymus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Analysis and expression of a cloned pre-T cell receptor gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Down-regulation of RAG1 and RAG2 gene expression in PreB cells after functional immunoglobulin heavy chain rearrangement

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

A severe combined immunodeficiency mutation in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775751

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074838

New insights into the proliferation and differentiation of early mouse thymocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074838

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074838

A critical role of λ5 protein in B cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074838

Crucial role of the pre-T-cell receptor α gene in development of ap but not γδ T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074838

Reduced immunoglobulin class switch recombination in the absence of Artemis

21 January 2018

1 reference

12 December 2020

A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination

1 reference

12 December 2020

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

1 reference

12 December 2020

Primary immunodeficiencies

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0074838

Identifiers

DOI

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5 August 2017

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5 August 2017

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