Article
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
The Journal of clinical investigation - 1 Aug 2016
van der Crabben Saskia N, Hennus Marije P, McGregor Grant A, Ritter Deborah I, Nagamani Sandesh C S, Wells Owen S, Harakalova Magdalena, Chinn Ivan K, Alt Aaron, Vondrova Lucie, Hochstenbach Ron, van Montfrans Joris M, Terheggen-Lagro Suzanne W, van Lieshout Stef, van Roosmalen Markus J, Renkens Ivo, Duran Karen, Nijman Isaac J, Kloosterman Wigard P, Hennekam Eric, Orange Jordan S, van Hasselt Peter M, Wheeler David A, Palecek Jan J, Lehmann Alan R, Oliver Antony W, Pearl Laurence H, Plon Sharon E, Murray Johanne M, van Haaften Gijs
Abstract excerpt
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. Four children from two unrelated kindreds died of severe...
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