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

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 <i>PTEN</i> tumor suppressor. In the present study, we investigated the causative...

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Bibliographic Details
Main Authors: Sundaramoorthy Revathidevi, Kazuyoshi Hosomichi, Toyoaki Natsume, Hirofumi Nakaoka, Naoko T. Fujito, Hisako Akatsuka, Takehito Sato, Arasambattu Kannan Munirajan, Ituro Inoue
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:International Journal of Molecular Sciences
Subjects:
<i>AMBRA1</i>
<i>AMBRA1</i> Q30R mutant
Cowden syndrome
primary cilia
CRISPR/Cas
G1/S transition
Online Access:https://www.mdpi.com/1422-0067/23/19/11124

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https://www.mdpi.com/1422-0067/23/19/11124

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