Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 5471T>C; Leu1824Pro

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 5471T>C; Leu1824Pro

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Orphanet Journal Of Rare Diseases

Nanetti, Lorenzo L; Cavalieri, Simona S; Pensato, Viviana V; Erbetta, Alessandra A; Pareyson, Davide D; Panzeri, Marta M; Zorzi, Giovanna G; Antozzi, Carlo C; Moroni, Isabella I; Gellera, Cinzia C; Brusco, Alfredo A; Mariotti, Caterina C

Publication Date: 2013-08-14

Variant appearance in text: ATM: 5471T>C

PubMed Link: 23941260

Variant Present in the following documents:

• Main text
• 1750-1172-8-123.pdf

View BVdb publication page