Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10192709" target="_blank" >RIV/00216208:11110/13:10192709 - isvavai.cz</a>
Alternative codes found
RIV/68378050:_____/13:00423172 RIV/61989592:15110/13:33143841 RIV/00064165:_____/13:10192709
Result on the web
<a href="http://dx.doi.org/10.1083/jcb.201210031" target="_blank" >http://dx.doi.org/10.1083/jcb.201210031</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1083/jcb.201210031" target="_blank" >10.1083/jcb.201210031</a>
Alternative languages
Result language
angličtina
Original language name
Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
Original language description
The DNA damage response (DDR) pathway and its core component tumor suppressor p53 block cell cycle progression after genotoxic stress and represent an intrinsic barrier preventing cancer development. The serine/threonine phosphatase PPM1D/Wip1 inactivates p53 and promotes termination of the DDR pathway. Wip1 has been suggested to act as an oncogene in a subset of tumors that retain wild-type p53. In this paper, we have identified novel gain-of-function mutations in exon 6 of PPM1D that result in expression of C-terminally truncated Wip1. Remarkably, mutations in PPM1D are present not only in the tumors but also in other tissues of breast and colorectal cancer patients, indicating that they arise early in development or affect the germline. We show thatmutations in PPM1D affect the DDR pathway and propose that they could predispose to cancer.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Cell Biology
ISSN
0021-9525
e-ISSN
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Volume of the periodical
201
Issue of the periodical within the volume
4
Country of publishing house
GB - UNITED KINGDOM
Number of pages
11
Pages from-to
511-521
UT code for WoS article
000318909500005
EID of the result in the Scopus database
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