(Q41919979)

14 October 2017

title

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. (English)

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severe combined immunodeficiency

14 October 2017

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2

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14 October 2017

Jean-Laurent Casanova

8

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14 October 2017

6

Marina Cavazzana-Calvo

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Jean-Pierre de Villartay

10

object named as

Jean-Pierre de Villartay

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Régina de Chasseval

3

object named as

Régina de Chasseval

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14 October 2017

Dietke Buck

1

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14 October 2017

Yunmei Ma

4

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14 October 2017

Françoise le Deist

5

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14 October 2017

Alain Fischer

7

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14 October 2017

Michael R Lieber

9

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14 October 2017

language of work or name

English

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publication date

1 January 2006

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European Journal of Immunology

14 October 2017

published in

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14 October 2017

volume

36

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14 October 2017

issue

1

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14 October 2017

page(s)

224-235

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

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

The mechanism and regulation of chromosomal V(D)J recombination

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Partners and pathwaysrepairing a double-strand break.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Sensing and repairing DNA double-strand breaks

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Repair of DNA double strand breaks by non-homologous end joining

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

The role of the non-homologous end-joining pathway in lymphocyte development

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Artemis sheds new light on V(D)J recombination

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Terminal deoxynucleotidyl transferase and repertoire development

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Requirement for an interaction of XRCC4 with DNA ligase IV for wild-type V(D)J recombination and DNA double-strand break repair in vivo.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Have We Seen the Last Variant of Severe Combined Immunodeficiency?

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

RAG mutations in human B cell-negative SCID.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Omenn syndrome due to ARTEMIS mutations

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Transformation of mammalian cells with genes from procaryotes and eucaryotes

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200535401

7 January 2021

Identifiers

DOI

10.1002/EJI.200535401

1 reference

14 October 2017

1 reference