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Article

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.

Human mutation - 1 Feb 2010

Pannicke Ulrich, Hönig Manfred, Schulze Ilka, Rohr Jan, Heinz Gitta A, Braun Sylvia, Janz Ingrid, Rump Eva-Maria, Seidel Markus G, Matthes-Martin Susanne, Soerensen Jan, Greil Johann, Stachel Daniel K, Belohradsky Bernd H, Albert Michael H, Schulz Ansgar, Ehl Stephan, Friedrich Wilhelm, Schwarz Klaus

Abstract excerpt

The nuclease ARTEMIS is an essential factor of V(D)J recombination during lymphocyte development and in the repair of DNA double-strand breaks (DSB) by the nonhomologous end joining (NHEJ) pathway. Patients with mutations in the DCLRE1C gene, which encodes ARTEMIS, suffer from radiosensitive B(-/...

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Source

Identifiers

PMID: 19953608
DOI: 10.1002/humu.21168

Genes

MEIG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19953608-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.PMID 19953608Read ↗

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The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.Semantic proximity Read ↗

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