Publications:

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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: A20T

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Activation of the DDR Pathway Leads to the Down-Regulation of the TGFβ Pathway and a Better Response to ICIs in Patients With Metastatic Urothelial Carcinoma.

Frontiers In Immunology

Zhou, Chaozheng C; Lin, Anqi A; Cao, Manming M; Ding, Weimin W; Mou, Weiming W; Guo, Ningyi N; Chen, Zhenyu Z; Zhang, Jian J; Luo, Peng P

Publication Date: 2021

Variant appearance in text: ATM: A20T

PubMed Link: 34220801

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 6

View BVdb publication page

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Pancancer modelling predicts the context-specific impact of somatic mutations on transcriptional programs.

Nature Communications

Osmanbeyoglu, Hatice U HU; Toska, Eneda E; Chan, Carmen C; Baselga, José J; Leslie, Christina S CS

Publication Date: 2017-01-31

Variant appearance in text: ATM: A20T

PubMed Link: 28139702

Variant Present in the following documents:

• ncomms14249-s2.xlsx, sheet 39
• ncomms14249-s2.xlsx, sheet 40
• ncomms14249-s2.xlsx, sheet 38

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A novel mathematical model of ATM/p53/NF- κB pathways points to the importance of the DDR switch-off mechanisms.

Bmc Systems Biology

Jonak, Katarzyna K; Kurpas, Monika M; Szoltysek, Katarzyna K; Janus, Patryk P; Abramowicz, Agata A; Puszynski, Krzysztof K

Publication Date: 2016-08-15

Variant appearance in text: ATM: A20t

PubMed Link: 27526774

Variant Present in the following documents:

• 12918_2016_293_MOESM1_ESM.pdf

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: ATM: A20T

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)

van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY

Publication Date: 2015-10

Variant appearance in text: ATM: 58G>A

PubMed Link: 26122175

Variant Present in the following documents:

• Main text
• emss-64345.pdf

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Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

American Journal Of Human Genetics

Bras, Jose J; Alonso, Isabel I; Barbot, Clara C; Costa, Maria Manuela MM; Darwent, Lee L; Orme, Tatiana T; Sequeiros, Jorge J; Hardy, John J; Coutinho, Paula P; Guerreiro, Rita R

Publication Date: 2015-03-05

Variant appearance in text: ATM: 58G>A

PubMed Link: 25728773

Variant Present in the following documents:

• Main text

View BVdb publication page

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