A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. (Q34211015)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16357942%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation (English)

1 reference

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severe combined immunodeficiency

10 January 2020

main subject

1 reference

11

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10 January 2020

Dik C van Gent

12

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10 January 2020

Małgorzata Z Zdzienicka

10

object named as

Malgorzata Z Zdzienicka

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10 January 2020

4

Wouter W Wiegant

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10 January 2020

1

Mirjam van der Burg

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10 January 2020

6

Barbara H Barendregt

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10 January 2020

author name string

Lieneke R van Veelen

2

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10 January 2020

Nicole S Verkaik

3

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10 January 2020

Nico G Hartwig

5

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10 January 2020

Linda Brugmans

7

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10 January 2020

Anja Raams

8

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10 January 2020

Nicolaas G J Jaspers

9

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10 January 2020

language of work or name

English

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publication date

15 December 2005

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Journal of Clinical Investigation

10 January 2020

published in

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10 January 2020

volume

116

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10 January 2020

issue

1

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10 January 2020

page(s)

137-145

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Unraveling the consecutive recombination events in the human IGK locus.

10 January 2020

cites work

1 reference

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An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

5 July 2018

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Role of DNA-PK in the cellular response to DNA double-strand breaks

5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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Nonhomologous end joining and V(D)J recombination require an additional factor

5 July 2018

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

5 July 2018

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Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

5 July 2018

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

5 July 2018

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

5 July 2018

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V(D)J recombination: RAG proteins, repair factors, and regulation

5 July 2018

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

5 July 2018

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Nuclear dynamics of RAD52 group homologous recombination proteins in response to DNA damage.

5 July 2018

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Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells

5 July 2018

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DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

5 July 2018

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Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

5 July 2018

1 reference

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

5 July 2018

1 reference

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Chromosomal stability and the DNA double-stranded break connection

5 July 2018

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DNA-binding and strand-annealing activities of human Mre11: implications for its roles in DNA double-strand break repair pathways

5 July 2018

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How to make ends meet in V(D)J recombination

5 July 2018

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Structural and mechanistic conservation in DNA ligases

5 July 2018

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Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm

5 July 2018

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Terminal deoxynucleotidyl transferase and repertoire development

5 July 2018

1 reference

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DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

5 July 2018

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Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development

5 July 2018

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

5 July 2018

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Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia

5 July 2018

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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

5 July 2018

1 reference

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Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts

5 July 2018

1 reference

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The DNA-dependent protein kinase

5 July 2018

1 reference

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Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice

5 July 2018

1 reference

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A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis

5 July 2018

1 reference

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

5 July 2018

1 reference

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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

5 July 2018

1 reference

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RAG mutations in human B cell-negative SCID.

5 July 2018

1 reference

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The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination

5 July 2018

1 reference

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P nucleotide insertions and the resolution of hairpin DNA structures in mammalian cells

5 July 2018

1 reference

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A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

5 July 2018

1 reference

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Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

28 October 2018

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End-joining of blunt DNA double-strand breaks in mammalian fibroblasts is precise and requires DNA-PK and XRCC4.

28 October 2018

1 reference

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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.

28 October 2018

1 reference

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Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

28 October 2018

1 reference

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

28 October 2018

1 reference

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In vitro transcription: whole-cell extract.

28 October 2018

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Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients

28 October 2018

1 reference

12 December 2020

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

12 December 2020

V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation

1 reference

12 December 2020

Ig heavy chain gene rearrangements in T-cell acute lymphoblastic leukemia exhibit predominant DH6-19 and DH7-27 gene usage, can result in complete V-D-J rearrangements, and are rare in T-cell receptor alpha beta lineage

1 reference

12 December 2020

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

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12 December 2020

Identifiers

DOI

10.1172/JCI26121

1 reference

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release_2rco7nruyvhvxhwz6wj2nlonqu

10 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/2rco7nruyvhvxhwz6wj2nlonqu

24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16357942%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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