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: 61A>G; Thr21Ala

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.

Scientific Reports

Stuchlý, Jan J; Kanderová, Veronika V; Vlková, Marcela M; Heřmanová, Ivana I; Slámová, Lucie L; Pelák, Ondřej O; Taraldsrud, Eli E; Jílek, Dalibor D; Králíc Ková, Pavlína P; Fevang, Børre B; Trková, Marie M; Hrušák, Ondřej O; Froňková, Eva E; Šedivá, Anna A; Litzman, Jiří J; Kalina, Tomáš T

Publication Date: 2017-01-05

Variant appearance in text: ATM: T21A

PubMed Link: 28054583

Variant Present in the following documents:

• Main text
• srep39710.pdf

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Distinct roles for DNA-PK, ATM and ATR in RPA phosphorylation and checkpoint activation in response to replication stress.

Nucleic Acids Research

Liu, Shengqin S; Opiyo, Stephen O SO; Manthey, Karoline K; Glanzer, Jason G JG; Ashley, Amanda K AK; Amerin, Courtney C; Troksa, Kyle K; Shrivastav, Meena M; Nickoloff, Jac A JA; Oakley, Greg G GG

Publication Date: 2012-11

Variant appearance in text: ATM: Thr21Ala

PubMed Link: 22977173

Variant Present in the following documents:

• Main text
• gks849.pdf

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Dynamic targeting of the replication machinery to sites of DNA damage.

The Journal Of Cell Biology

Solomon, David A DA; Cardoso, M Cristina MC; Knudsen, Erik S ES

Publication Date: 2004-08-16

Variant appearance in text: ATM: T21A

PubMed Link: 15314062

Variant Present in the following documents:

• Main text
• 200312048.pdf

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Phosphatidyl inositol 3-kinase-like serine/threonine protein kinases (PIKKs) are required for DNA damage-induced phosphorylation of the 32 kDa subunit of replication protein A at threonine 21.

Nucleic Acids Research

Block, Wesley D WD; Yu, Yaping Y; Lees-Miller, Susan P SP

Publication Date: 2004

Variant appearance in text: ATM: T21A

PubMed Link: 14872059

Variant Present in the following documents:

• Main text

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