(Q33964869)

English

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

scientific article published in August 2000

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8 November 2019

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

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8 November 2019

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8 November 2019

4

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8 November 2019

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C A Gomez

1

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8 November 2019

L M Ptaszek

2

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8 November 2019

C Sobacchi

5

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8 November 2019

E G Brooks

6

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8 November 2019

L D Notarangelo

7

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8 November 2019

E Spanopoulou

8

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8 November 2019

Z Q Pan

9

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8 November 2019

P Vezzoni

10

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8 November 2019

P Cortes

11

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8 November 2019

S Santagata

12

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8 November 2019

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1 August 2000

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8 November 2019

Molecular and Cellular Biology

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8 November 2019

20

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8 November 2019

15

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8 November 2019

5653-5664

1 reference

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8 November 2019

Definition of minimal domains of interaction within the recombination-activating genes 1 and 2 recombinase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

The kelch repeat superfamily of proteins: propellers of cell function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps 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=86034

5 July 2018

The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

RAG and RAG defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2F1-activated transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

DNA hairpin opening mediated by the RAG1 and RAG2 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Gleaning non-trivial structural, functional and evolutionary information about proteins by iterative database searches

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Detection of RAG protein-V(D)J recombination signal interactions near the site of DNA cleavage by UV cross-linking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

RAG-2 promotes heptamer occupancy by RAG-1 in the assembly of a V(D)J initiation complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Hairpin coding end opening is mediated by RAG1 and RAG2 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Atomic structure of clathrin: a beta propeller terminal domain joins an alpha zigzag linker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Distinct roles of RAG1 and RAG2 in binding the V(D)J recombination signal sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The effect of Me2+ cofactors at the initial stages 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=86034

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Footprint analysis of the RAG protein recombination signal sequence complex for V(D)J type recombination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

V(D)J recombination moves in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Modification of Cys-837 identifies an actin-binding site in the beta-propeller protein scruin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Naturally occurring primary deficiencies of the immune system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The 12/23 rule is enforced at the cleavage step of V(D)J recombination in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

RAG1 mediates signal sequence recognition and recruitment of RAG2 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=86034

5 July 2018

RAG mutations in human B cell-negative SCID.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Distinct DNA sequence and structure requirements for the two steps of V(D)J recombination signal cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Genetic evidence that the RAG1 protein directly participates in V(D)J recombination through substrate recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Initiation of V(D)J recombination in vitro obeying the 12/23 rule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The 2.0 A crystal structure of a heterotrimeric G protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

kelch encodes a component of intercellular bridges in Drosophila egg chambers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Green fluorescent protein as a marker for gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 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=86034

5 July 2018

Crystal structure of a free radical enzyme, galactose oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Drosophila kelch motif is derived from a common enzyme fold

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

V(D)J recombination and the cell cycle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Somatic generation of antibody diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

Extrachromosomal DNA substrates in pre-B cells undergo inversion or deletion at immunoglobulin V-(D)-J joining signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 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=86034

5 July 2018

Novel thioether bond revealed by a 1.7 A crystal structure of galactose oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

5 July 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=86034

5 July 2018

Identification of two catalytic residues in RAG1 that define a single active site within the RAG1/RAG2 protein complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

29 October 2018

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=86034

29 October 2018

The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and 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=86034

29 October 2018

Similarities between initiation of V(D)J recombination and retroviral integration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

29 October 2018

The Caenorhabditis elegans spe-26 gene is necessary to form spermatids and encodes a protein similar to the actin-associated proteins kelch and scruin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=86034

29 October 2018

Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of Omenn syndrome by bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

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/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10891502

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1128/MCB.20.15.5653-5664.2000

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10891502%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10891502%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10891502%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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