Article
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Human mutation - 1 Feb 2013
Mokrani-Benhelli Houda, Gaillard Laetitia, Biasutto Patricia, Le Guen Tangui, Touzot Fabien, Vasquez Nadia, Komatsu Jun, Conseiller Emmanuel, Pïcard Capucine, Gluckman Eliane, Francannet Christine, Fischer Alain, Durandy Anne, Soulier Jean, de Villartay Jean-Pierre, Cavazzana-Calvo Marina, Revy Patrick
Abstract excerpt
Ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) kinases are two key regulators of DNA-damage responses (DDR) that are mainly activated in response to DNA double-strand breaks and single-stranded DNA damages, respectively. Seckel syndrome, a rare genetic disorder characterized by a microcephaly and a markedly reduced body size, has been associated with defective ATR-dependent...
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