ATM c.863A>G ;(p.Y288C)

Variant ID: 11-108115715-A-G

NM_000051.3(ATM):c.863A>G;(p.Y288C)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2021-11-10

Variant appearance in text: ATM: Y288C
PubMed Link: 34759345
Variant Present in the following documents:
  • 41388_2021_Article_2102.pdf
View BVdb publication page



Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2022-01

Variant appearance in text: ATM: Y288C
PubMed Link: 34759345
Variant Present in the following documents:
  • 41388_2021_Article_2102.pdf
View BVdb publication page



Druggable targets meet oncogenic drivers: opportunities and limitations of target-based classification of tumors and the role of Molecular Tumor Boards.

Esmo Open
Danesi, R R; Fogli, S S; Indraccolo, S S; Del Re, M M; Dei Tos, A P AP; Leoncini, L L; Antonuzzo, L L; Bonanno, L L; Guarneri, V V; Pierini, A A; Amunni, G G; Conte, P P
Publication Date: 2021-04

Variant appearance in text: ATM: Y288C
PubMed Link: 33540286
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



DNA damage in aging, the stem cell perspective.

Human Genetics
McNeely, Taylor T; Leone, Michael M; Yanai, Hagai H; Beerman, Isabel I
Publication Date: 2020-03

Variant appearance in text: ATM: Y288C
PubMed Link: 31324975
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA repair fidelity in stem cell maintenance, health, and disease.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Mani, Chinnadurai C; Reddy, P Hemachandra PH; Palle, Komaraiah K
Publication Date: 2020-04-01

Variant appearance in text: ATM: Y288C
PubMed Link: 30953688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low levels of endogenous or X-ray-induced DNA double-strand breaks activate apoptosis in adult neural stem cells.

Journal Of Cell Science
Barazzuol, Lara L; Rickett, Nicole N; Ju, Limei L; Jeggo, Penny A PA
Publication Date: 2015-10-01

Variant appearance in text: ATM: Y288C
PubMed Link: 26303202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adult stem cell and mesenchymal progenitor theories of aging.

Frontiers In Cell And Developmental Biology
Fukada, So-Ichiro S; Ma, Yuran Y; Uezumi, Akiyoshi A
Publication Date: 2014

Variant appearance in text: ATM: Y288C
PubMed Link: 25364718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cellular mechanisms of somatic stem cell aging.

Current Topics In Developmental Biology
Jung, Yunjoon Y; Brack, Andrew S AS
Publication Date: 2014

Variant appearance in text: ATM: Y288C
PubMed Link: 24439814
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myelodysplastic syndrome: an inability to appropriately respond to damaged DNA?

Experimental Hematology
Zhou, Ting T; Hasty, Paul P; Walter, Christi A CA; Bishop, Alexander J R AJ; Scott, Linda M LM; Rebel, Vivienne I VI
Publication Date: 2013-08

Variant appearance in text: ATM: Y288C
PubMed Link: 23643835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms that regulate stem cell aging and life span.

Cell Stem Cell
Signer, Robert A J RA; Morrison, Sean J SJ
Publication Date: 2013-02-07

Variant appearance in text: ATM: Y288C
PubMed Link: 23395443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair.

Nucleic Acids Research
Woodbine, Lisa L; Brunton, H H; Goodarzi, A A AA; Shibata, A A; Jeggo, P A PA
Publication Date: 2011-09-01

Variant appearance in text: ATM: Y288C
PubMed Link: 21596788
Variant Present in the following documents:
  • Main text
  • gkr331.pdf
View BVdb publication page



Congenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair.

The Journal Of Cell Biology
Zhang, Shichuan S; Yajima, Hirohiko H; Huynh, Hoangdinh H; Zheng, Junke J; Callen, Elsa E; Chen, Hua-Tang HT; Wong, Nancy N; Bunting, Samuel S; Lin, Yu-Fen YF; Li, Mengxia M; Lee, Kyung-Jone KJ; Story, Michael M; Gapud, Eric E; Sleckman, Barry P BP; Nussenzweig, André A; Zhang, Cheng Cheng CC; Chen, David J DJ; Chen, Benjamin P C BP
Publication Date: 2011-04-18

Variant appearance in text: ATM: Y288C
PubMed Link: 21482716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stem cells and aging in the hematopoietic system.

Mechanisms Of Ageing And Development
Warren, Luigi A LA; Rossi, Derrick J DJ
Publication Date: 2009

Variant appearance in text: ATM: Y288C
PubMed Link: 18479735
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA-damage repair; the good, the bad, and the ugly.

The Embo Journal
Hakem, Razqallah R
Publication Date: 2008-02-20

Variant appearance in text: ATM: Y288C
PubMed Link: 18285820
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of DNA damage repair in aging of adult stem cells.

Nucleic Acids Research
Kenyon, Jonathan J; Gerson, Stanton L SL
Publication Date: 2007

Variant appearance in text: ATM: y288c
PubMed Link: 18160407
Variant Present in the following documents:
  • Main text
View BVdb publication page