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: L1814X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4

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Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Genes

Toss, Angela A; Tenedini, Elena E; Piombino, Claudia C; Venturelli, Marta M; Marchi, Isabella I; Gasparini, Elisa E; Barbieri, Elena E; Razzaboni, Elisabetta E; Domati, Federica F; Caggia, Federica F; Grandi, Giovanni G; Combi, Francesca F; Tazzioli, Giovanni G; Dominici, Massimo M; Tagliafico, Enrico E; Cortesi, Laura L

Publication Date: 2021-04-21

Variant appearance in text: ATM: 5441T>A

PubMed Link: 33919281

Variant Present in the following documents:

• Main text

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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Scientific Reports

Pozzi, Elisa E; Giorgio, Elisa E; Mancini, Cecilia C; Lo Buono, Nicola N; Augeri, Stefania S; Ferrero, Marta M; Di Gregorio, Eleonora E; Riberi, Evelise E; Vinciguerra, Maria M; Nanetti, Lorenzo L; Bianchi, Federico Tommaso FT; Sassi, Maria Paola MP; Costanzo, Vincenzo V; Mariotti, Caterina C; Funaro, Ada A; Cavalieri, Simona S; Brusco, Alfredo A

Publication Date: 2020-11-19

Variant appearance in text: ATM: 5441T>A

PubMed Link: 33214630

Variant Present in the following documents:

• 41598_2020_77352_MOESM1_ESM.pdf

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: ATM: L1814X

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 34

View BVdb publication page