RAG mutations in human B cell-negative SCID. (Q41159572)

27 September 2017

RAG mutations in human B cell-negative SCID. (English)

1 reference

27 September 2017

Schwarz K

1

1 reference

27 September 2017

Gauss GH

2

1 reference

27 September 2017

Ludwig L

3

1 reference

27 September 2017

Pannicke U

4

1 reference

27 September 2017

Li Z

5

1 reference

27 September 2017

Lindner D

6

1 reference

27 September 2017

Friedrich W

7

1 reference

27 September 2017

Seger RA

8

1 reference

27 September 2017

Hansen-Hagge TE

9

1 reference

27 September 2017

Desiderio S

10

1 reference

27 September 2017

Lieber MR

11

1 reference

27 September 2017

Bartram CR

12

1 reference

27 September 2017

language of work or name

English

0 references

publication date

1 October 1996

1 reference

27 September 2017

1 reference

27 September 2017

274

1 reference

27 September 2017

5284

1 reference

27 September 2017

97-99

1 reference

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor

27 September 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Primary combined immunodeficiency resulting from defective transcription of multiple T-cell lymphokine genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Analysis of regions of RAG-2 important for V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Unequal signal and coding joint formation in human V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Mechanistic constraints on diversity in human V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Expression and V(D)J recombination activity of mutated RAG-1 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Definition of a core region of RAG-2 that is functional in V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Dispensable sequence motifs in the RAG-1 and RAG-2 genes for plasmid V(D)J recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

Severe combined immunodeficiency due to a specific defect in the production of interleukin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.274.5284.97

10.1126/SCIENCE.274.5284.97

21 January 2018

Identifiers

DOI

1 reference

release_4qoyoabobrejbc6lkpdi4xemea

27 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4qoyoabobrejbc6lkpdi4xemea

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference