(Q43685735)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21390052%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide (English)

1 reference

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25 January 2020

5

1 reference

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25 January 2020

Adilia Warris

7

1 reference

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25 January 2020

Qiang Pan-Hammarström

8

1 reference

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25 January 2020

Jacques Van Dongen

11

1 reference

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25 January 2020

author name string

H Ijspeert

1

1 reference

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25 January 2020

A C Lankester

2

1 reference

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25 January 2020

J M van den Berg

3

1 reference

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25 January 2020

W Wiegant

4

1 reference

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25 January 2020

C M R Weemaes

6

1 reference

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25 January 2020

A Pastink

9

1 reference

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25 January 2020

M J D van Tol

10

1 reference

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25 January 2020

D C van Gent

12

1 reference

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25 January 2020

M van der Burg

13

1 reference

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25 January 2020

publication date

10 March 2011

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25 January 2020

1 reference

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25 January 2020

volume

12

1 reference

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25 January 2020

issue

6

1 reference

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25 January 2020

page(s)

434-444

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Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases

25 January 2020

cites work

1 reference

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New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy

21 January 2018

1 reference

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Gene therapy for severe combined immunodeficiency: are we there yet?

21 January 2018

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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

21 January 2018

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

21 January 2018

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Initiation of V(D)J recombination in a cell-free system.

21 January 2018

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The mechanism of non-homologous end-joining: a synopsis of synapsis

21 January 2018

1 reference

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Identification of in vitro and in vivo phosphorylation sites in the catalytic subunit of the DNA-dependent protein kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

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

21 January 2018

1 reference

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Terminal deoxynucleotidyl transferase and repertoire development

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 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.

21 January 2018

1 reference

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Non-homologous end-joining, a sticky affair

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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Partial V(D)J recombination activity leads to Omenn syndrome

21 January 2018

1 reference

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Omenn syndrome due to ARTEMIS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

An immunodeficiency disease with RAG mutations and granulomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Reconstruction and analysis of human alu genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Mechanism and control of V(D)J recombination at the immunoglobulin heavy chain locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Delineation of the role of the Mre11 complex in class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Tissue-specific splicing factor gene expression signatures

21 January 2018

1 reference

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Alternative isoform regulation in human tissue transcriptomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Stem cell transplantation in primary immunodeficiencies

21 January 2018

1 reference

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Progress and prospects: gene therapy for inherited immunodeficiencies

21 January 2018

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Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

21 January 2018

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LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

21 January 2018

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New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals

21 January 2018

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Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects.

21 January 2018

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IMGT databases, web resources and tools for immunoglobulin and T cell receptor sequence analysis, http://imgt.cines.fr

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

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

21 January 2018

1 reference

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Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms

21 January 2018

1 reference

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Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

21 January 2018

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7 January 2021

Immunohistochemical features of cutaneous granulomas in primary immunodeficiency disorders: a comparison with cutaneous sarcoidosis

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

Alternative end joining during switch recombination in patients with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

Reduced immunoglobulin class switch recombination in the absence of Artemis

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

Regulation of switching and production of IgA in human B cells in donors with duplicated alpha1 genes

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.16

7 January 2021

Identifiers

DOI

10.1038/GENE.2011.16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21390052%20AND%20SRC:MED&resulttype=core&format=json

release_r5hb2bva2jfsdin5nhrnudl2c4

25 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/r5hb2bva2jfsdin5nhrnudl2c4

24 November 2022

mapped directly with Wikidata item

1 reference