Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. (Q33755407)

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English	Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.	scientific article

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19 January 2020

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination (English)

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19 January 2020

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19 January 2020

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Chrystelle Couëdel

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19 January 2020

Christopher Roman

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19 January 2020

Alison Jones

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19 January 2020

Paolo Vezzoni

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19 January 2020

Patricia Cortes

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19 January 2020

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15 March 2010

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19 January 2020

Journal of Clinical Investigation

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19 January 2020

120

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19 January 2020

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19 January 2020

1337-1344

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19 January 2020

The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

RAG2's non-core domain contributes to the ordered regulation of 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=2846059

21 June 2018

DNA damage and repair during lymphoid development: antigen receptor diversity, genomic integrity and lymphomagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

RAG2 PHD finger couples histone H3 lysine 4 trimethylation with 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=2846059

21 June 2018

The plant homeodomain finger of RAG2 recognizes histone H3 methylated at both lysine-4 and arginine-2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

A plant homeodomain in RAG-2 that binds Hypermethylated lysine 4 of histone H3 is necessary for efficient antigen-receptor-gene rearrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

RAG-dependent primary immunodeficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

A direct interaction between the RAG2 C terminus and the core histones is required for efficient 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=2846059

21 June 2018

A PHD finger motif in the C terminus of RAG2 modulates recombination activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Overlapping signals for protein degradation and nuclear localization define a role for intrinsic RAG-2 nuclear uptake in dividing cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Deletion of the RAG2 C terminus leads to impaired lymphoid development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

A20 inhibits tumor necrosis factor (TNF) alpha-induced apoptosis by disrupting recruitment of TRADD and RIP to the TNF receptor 1 complex in Jurkat T cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

A short peptide at the C terminus is responsible for the nuclear localization of RAG2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Cyclin A/CDK2 regulates V(D)J recombination by coordinating RAG-2 accumulation and DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Dual role of RAG2 in V(D)J recombination: catalysis and regulation of ordered Ig gene assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

V(D)J recombination signal recognition: distinct, overlapping DNA-protein contacts in complexes containing RAG1 with and without RAG2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Complementation of V(D)J recombination deficiency in RAG-1(-/-) B cells reveals a requirement for novel elements in the N-terminus of RAG-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Regulation of V(D)J recombination activator protein RAG-2 by phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

Dispensable sequence motifs in the RAG-1 and RAG-2 genes for plasmid 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=2846059

21 June 2018

Analysis of regions of RAG-2 important 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=2846059

21 June 2018

Definition of a core region of RAG-2 that is functional in 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=2846059

21 June 2018

Ordered rearrangement of immunoglobulin heavy chain variable region segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

The V(D)J recombination activating gene, RAG-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

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=2846059

21 June 2018

Virus-transformed pre-B cells show ordered activation but not inactivation of immunoglobulin gene rearrangement and transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

21 June 2018

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=2846059

21 June 2018

H3K4me3 stimulates the V(D)J RAG complex for both nicking and hairpinning in trans in addition to tethering in cis: implications for translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

30 October 2018

Omenn syndrome due to mutation of the RAG2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

30 October 2018

Omenn syndrome is associated with mutations in DNA ligase IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

30 October 2018

Omenn syndrome due to ARTEMIS mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

30 October 2018

The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846059

30 October 2018

A conserved degradation signal regulates RAG-2 accumulation during cell division and links V(D)J recombination to the cell cycle

1 reference

https://pubmed.ncbi.nlm.nih.gov/20234091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20234091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20234091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The chemokine binding protein M3 prevents diabetes induced by multiple low doses of streptozotocin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20234091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1172/JCI41305

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19 January 2020

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19 January 2020

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19 January 2020

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