Cernunnos, a novelnonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Article Abstract:

Failure to properly repair DSBs result in genetic instability, developmental delay, and various forms of immunodeficiency is characterized by a profound T+B lymphcytopenia. An increased cellular sensitivity to ionizing radiation, a defective V(D)J recombination, and an impaired DNA-end ligation process both in vivo and in vitro are indicative of a general DNA repair defect in the patients.

Author: Revy, Patrick, Sanal, Ozden, Fischer, Alain, Durandy, Anne, Villartay, Jean-Pierre de, Buck, Deitke, Malivert, Laurent, Chasseval, Regina de, Barraud, Anne, Fondaneche, Marie-Claude, Piebani, Alessandro, Stephan, Jean-Louis, Hufnagel, Markus, Deist, Francoise
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2006
Italy, Germany, Science & research, Biological Product (except Diagnostic) Manufacturing, Drugs, Deoxyribonucleic Acid, Research, DNA, Microcephaly

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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune defeciency

Article Abstract:

Research has been conducted on the variable, diversity, joining gene segments expressed by a mechanism known as V(D)J recombination. The cloning of the gene Artemis which encodes a protein involved in the V(D)J recombination /DNA repair has been carried out and the results of the protein sequence analysis suggest that this gene belongs to the metallo-beta-lactamase superfamily.

Author: Sanal, Ozden, Tezcan, Ilhan, Fischer, Alain, Le Deist, Francoise, Cavazzana-Calvo, Marina, Moshous, Despina, Callebaut, Isabelle, Chasseval, Regina de, Corneo, Barbara, Bertrand, Yves, Philippe, Noel, Villartay, Jean-Pierre de
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
Statistical Data Included, Analysis, Physiological aspects, Gene mutations, Gene mutation, Genetic aspects, Cell research, Cytological research, Beta lactamases, Amino acid sequence, Amino acid sequencing

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Subjects list: France, DNA repair
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