Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive genetic disorder caused by mutations within nibrin (NBN), a DNA damage repair protein. Hallmarks of NBS include chromosomal instability and clinical manifestations such as growth retardation, immunodeficiency, and progressive microcephal...

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Detalles Bibliográficos
Autores principales: Martins, Soraia, Erichsen, Lars, Datsi, Angeliki, Wruck, Wasco, Goering, Wolfgang, Chatzantonaki, Eleftheria, de Amorim, Vanessa Cristina Meira, Rossi, Andrea, Chrzanowska, Krystyna H., Adjaye, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8909307/
https://www.ncbi.nlm.nih.gov/pubmed/35269426
http://dx.doi.org/10.3390/cells11050802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8909307/
https://www.ncbi.nlm.nih.gov/pubmed/35269426
http://dx.doi.org/10.3390/cells11050802

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