Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed non-oncogenic activities related to multiciliogenesis. Utilizing whole-exome sequencing analysis in a cohort of individuals with a mucociliary clea...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Wallmeier, Julia, Bracht, Diana, Alsaif, Hessa S., Dougherty, Gerard W., Olbrich, Heike, Cindric, Sandra, Dzietko, Mark, Heyer, Christoph, Teig, Norbert, Thiels, Charlotte, Faqeih, Eissa, Al-Hashim, Aqeela, Khan, Sameena, Mogarri, Ibrahim, Almannai, Mohammed, Al Otaibi, Wadha, Alkuraya, Fowzan S., Koerner-Rettberg, Cordula, Omran, Heymut
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8322810/
https://ncbi.nlm.nih.gov/pubmed/34077761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.05.002
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