Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell–cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in huma...

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Detalles Bibliográficos
Autores principales: Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372553/
https://www.ncbi.nlm.nih.gov/pubmed/32196547
http://dx.doi.org/10.1093/hmg/ddaa050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372553/
https://www.ncbi.nlm.nih.gov/pubmed/32196547
http://dx.doi.org/10.1093/hmg/ddaa050

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