(Q37734244)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

0 references

0 references

genotype-phenotype correlation

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Francesco Frugoni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kerry Dobbs

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Elie Haddad

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Elham Hossny

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Pere Soler-Palacín

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Paolo Palma

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Caterina Cancrini

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Mauno Vihinen

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

23

Jennifer M Puck

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

29

Luigi D Notarangelo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

6

Andrew R Gennery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

22

Raif S Geha

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

11

Lauren A Henderson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

4

Jolan E Walter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

10

Jack H Bleesing

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

19

Ramsay L Fuleihan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

26

Karin Chen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

5

Silvia Giliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

7

Waleed Al-Herz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

28

Frederick W Alt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

20

Niraj C Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

21

Michel J Massaad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Francoise LeDeist

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sung-Yun Pai

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Robert P Nelson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Dalia H El-Ghoneimy

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Reem A El-Feky

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Shereen M Reda

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

28 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Allergy and Clinical Immunology

2 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

1099-1108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

V(D)J recombination: mechanisms of initiation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

High throughput sequencing reveals a complex pattern of dynamic interrelationships among human T cell subsets

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Structure of the RAG1 nonamer binding domain with DNA reveals a dimer that mediates DNA synapsis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

RAG-dependent primary immunodeficiencies.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

A variant of SCID with specific immune responses and predominance of gamma delta T cells

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Predominant autoantibody production by early human B cell precursors

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Mechanisms of programmed DNA lesions and genomic instability in the immune system.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

A small molecule Abl kinase inhibitor induces differentiation of Abelson virus-transformed pre-B cell lines

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

PON-P: integrated predictor for pathogenicity of missense variants

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Genetic and structural evidence for antigen selection of anti-DNA antibodies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

RAG mutations in human B cell-negative SCID.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Immunoglobulin analysis tool: a novel tool for the analysis of human and mouse heavy and light chain transcripts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

CTCF-binding elements mediate control of V(D)J recombination

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Estimation of D segment usage in initial D to JH joinings in a murine immature B cell line. Preferential usage of DFL16.1, the most 5' D segment and DQ52, the most JH-proximal D segment

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Analysis of mutations and recombination activity in RAG-deficient patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

An immunodeficiency disease with RAG mutations and granulomas

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Novel RAG1 mutation in a case of severe combined immunodeficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Development of the expressed Ig CDR-H3 repertoire is marked by focusing of constraints in length, amino acid use, and charge that are first established in early B cell progenitors

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Adult lupus-prone MRL/MpJ2+ mice express a primary antibody repertoire that differs in CDR-H3 length distribution and hydrophobicity from that expressed in the C3H parental strain.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005599

Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings

1 September 2018

1 reference

12 December 2020

IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID

1 reference

12 December 2020

Highly variable clinical phenotypes of hypomorphic RAG1 mutations

1 reference

12 December 2020

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

1 reference

12 December 2020

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

1 reference

12 December 2020

Defect of regulatory T cells in patients with Omenn syndrome

1 reference

12 December 2020

10.1016/J.JACI.2013.10.007

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24290284%20AND%20SRC:MED&resulttype=core&format=json