AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells

Cowden syndrome (CS) is a rare autosomal dominant disorder associated with multiple hamartomatous and neoplastic lesions in various organs. Most CS patients have been found to have germline mutations in the PTEN tumor suppressor. In the present study, we investigated the causative gene of CS in a fa...

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Detalles Bibliográficos
Autores principales: Revathidevi, Sundaramoorthy, Hosomichi, Kazuyoshi, Natsume, Toyoaki, Nakaoka, Hirofumi, Fujito, Naoko T., Akatsuka, Hisako, Sato, Takehito, Munirajan, Arasambattu Kannan, Inoue, Ituro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570079/
https://www.ncbi.nlm.nih.gov/pubmed/36232425
http://dx.doi.org/10.3390/ijms231911124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570079/
https://www.ncbi.nlm.nih.gov/pubmed/36232425
http://dx.doi.org/10.3390/ijms231911124

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