A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains elusive. Hypomorphic mutations in the X-linked ATRX...

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Detalles Bibliográficos
Autores principales: Tillotson, Rebekah, Yan, Keqin, Ruston, Julie, DeYoung, Taylor, Córdova, Alex, Turcotte-Cardin, Valérie, Yee, Yohan, Taylor, Christine, Visuvanathan, Shagana, Babbs, Christian, Ivakine, Evgueni A, Sled, John G, Nieman, Brian J, Picketts, David J, Justice, Monica J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360390/
https://www.ncbi.nlm.nih.gov/pubmed/37171606
http://dx.doi.org/10.1093/hmg/ddad075

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