Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

The autosomal recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a genetically heterogeneous disorder. Despite the identification of the underlying gene defects, it is unclear how mutations in any of the four known ICF genes cause a primary immunodeficiency....

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Autores principales: Helfricht, Angela, Thijssen, Peter E., Rother, Magdalena B., Shah, Rashmi G., Du, Likun, Takada, Sanami, Rogier, Mélanie, Moritz, Jacques, IJspeert, Hanna, Stoepker, Chantal, van Ostaijen-ten Dam, Monique M., Heyer, Vincent, Luijsterburg, Martijn S., de Groot, Anton, Jak, Rianca, Grootaers, Gwendolynn, Wang, Jun, Rao, Pooja, Vertegaal, Alfred C.O., van Tol, Maarten J.D., Pan-Hammarström, Qiang, Reina-San-Martin, Bernardo, Shah, Girish M., van der Burg, Mirjam, van der Maarel, Silvère M., van Attikum, Haico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526497/
https://www.ncbi.nlm.nih.gov/pubmed/32865561
http://dx.doi.org/10.1084/jem.20191688

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