The N-terminal BRCT domain determines MCPH1 function in brain development and fertility

MCPH1 is a causal gene for the neurodevelopmental disorder, human primary microcephaly (MCPH1, OMIM251200). Most pathogenic mutations are located in the N-terminal region of the gene, which encodes a BRCT domain, suggesting an important function of this domain in brain size determination. To investi...

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Detaylı Bibliyografya
Yayımlandı:Cell Death Dis
Asıl Yazarlar: Liu, Xiaoqian, Schneble-Löhnert, Nadine, Kristofova, Martina, Qing, Xiaobing, Labisch, Jan, Hofmann, Susanne, Ehrenberg, Sandra, Sannai, Mara, Jörß, Tjard, Ori, Alessandro, Godmann, Maren, Wang, Zhao-Qi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2021
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862653/
https://ncbi.nlm.nih.gov/pubmed/33542216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41419-021-03406-3
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