A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

Failure of neural tube closure during embryonic development can result in anencephaly, one of the most common birth defects in humans. A family with recurrent anencephalic fetuses was investigated to understand its etiology and pathogenesis. Exome sequencing revealed a recessive germline 21-bp in-fr...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Bonnard, Carine, Navaratnam, Naveenan, Ghosh, Kakaly, Chan, Puck Wee, Tan, Thong Teck, Pomp, Oz, Ng, Alvin Yu Jin, Tohari, Sumanty, Changede, Rishita, Carling, David, Venkatesh, Byrappa, Altunoglu, Umut, Kayserili, Hülya, Reversade, Bruno
Formato: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2020
Assuntos:
Brief Definitive Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7953732/
https://ncbi.nlm.nih.gov/pubmed/32845958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20191561
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