Publications:

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ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers

Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M

Publication Date: 2021-11-01

Variant appearance in text: ATM: G2867R

PubMed Link: 34771661

Variant Present in the following documents:

• Main text
• cancers-13-05498.pdf

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Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.

Structure (London, England : 1993)

Yates, Luke A LA; Williams, Rhys M RM; Hailemariam, Sarem S; Ayala, Rafael R; Burgers, Peter P; Zhang, Xiaodong X

Publication Date: 2020-01-07

Variant appearance in text: ATM: G2867R

PubMed Link: 31740029

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc2.pdf

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Rare germline variants in known melanoma susceptibility genes in familial melanoma.

Human Molecular Genetics

Goldstein, Alisa M AM; Xiao, Yanzi Y; Sampson, Joshua J; Zhu, Bin B; Rotunno, Melissa M; Bennett, Hunter H; Wen, Yixuan Y; Jones, Kristine K; Vogt, Aurelie A; Burdette, Laurie L; Luo, Wen W; Zhu, Bin B; Yeager, Meredith M; Hicks, Belynda B; Han, Jiali J; De Vivo, Immaculata I; Koutros, Stella S; Andreotti, Gabriella G; Beane-Freeman, Laura L; Purdue, Mark M; Freedman, Neal D ND; Chanock, Stephen J SJ; Tucker, Margaret A MA; Yang, Xiaohong R XR

Publication Date: 2017-12-15

Variant appearance in text: ATM: G2867R

PubMed Link: 29036293

Variant Present in the following documents:

• Main text

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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: 8599G>C; Gly2867Arg

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATM: G2867R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: ATM: G2867R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: ATM: G2867R

PubMed Link: 22529920

Variant Present in the following documents:

• Main text
• pone.0034573.pdf

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Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Scott, Shaun P SP; Bendix, Regina R; Chen, Philip P; Clark, Raymond R; Dork, Thilo T; Lavin, Martin F MF

Publication Date: 2002-01-22

Variant appearance in text: ATM: G2867R

PubMed Link: 11805335

Variant Present in the following documents:

• Main text

View BVdb publication page

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