Article
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
American journal of human genetics - 5 Mar 2015
Murray Jennie E, van der Burg Mirjam, IJspeert Hanna, Carroll Paula, Wu Qian, Ochi Takashi, Leitch Andrea, Miller Edward S, Kysela Boris, Jawad Alireza, Bottani Armand, Brancati Francesco, Cappa Marco, Cormier-Daire Valerie, Deshpande Charu, Faqeih Eissa A, Graham Gail E, Ranza Emmanuelle, Blundell Tom L, Jackson Andrew P, Stewart Grant S, Bicknell Louise S
Abstract excerpt
Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in several components of the NHEJ pathway have been identified, often associated with severe combined immunodeficiency (SCID), consistent with the requirement for NHEJ during V(D)J recombination to ensure diversity of the adaptive immune system. In contrast, we have recently found that biallelic mutations in LIG4 are...
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