Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Blood - 26 Mar 2009

Giblin William, Chatterji Monalisa, Westfield Gerwin, Masud Tehmina, Theisen Brian, Cheng Hwei-Ling, DeVido Jeffrey, Alt Frederick W, Ferguson David O, Schatz David G, Sekiguchi JoAnn

Abstract excerpt

The RAG1/2 endonuclease initiates programmed DNA rearrangements in progenitor lymphocytes by generating double-strand breaks at specific recombination signal sequences. This process, known as V(D)J recombination, assembles the vastly diverse antigen receptor genes from numerous V, D, and J coding segments. In vitro biochemical and cellular transfection studies suggest that RAG1/2 may also play postcleavage roles...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to B-Lymphocytes
Share to Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Homeodomain Proteins

Share to Lymphoma

Share to Severe Combined Immunodeficiency

Share to T-Lymphocytes

Share to Thymus Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 19126872
DOI: 10.1182/blood-2008-07-165167
PMCID: PMC2662642

Genes

RAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.PMID 19126872Read ↗

Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiencySemantic proximity Read ↗

Role of recombination activating genes in the generation of antigen receptor diversity and beyond.Semantic proximity Read ↗

RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.Semantic proximity Read ↗

Identification and characterization of a gain-of-function RAG-1 mutant.Semantic proximity Read ↗

Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.Semantic proximity Read ↗

Immunological disorders and DNA repair.Semantic proximity Read ↗

Generation and CRISPR/Cas9 editing of transformed progenitor B cells as a pseudo-physiological system to study DNA repair gene function in V(D)J recombination.Semantic proximity Read ↗

Impairment of V(D)J recombination in double-strand break repair mutants.Semantic proximity Read ↗

RAG1/2 induces genomic insertions by mobilizing DNA into RAG1/2-independent breaksSemantic proximity Read ↗

Rag mutations reveal robust alternative end joining.Semantic proximity Read ↗

Illegitimate V(D)J recombination involving nonantigen receptor loci in lymphoid malignancySemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.