Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68081707%3A_____%2F12%3A00389536" target="_blank" >RIV/68081707:_____/12:00389536 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/12:00074681
Result on the web
<a href="http://dx.doi.org/10.1016/j.cell.2012.06.028" target="_blank" >http://dx.doi.org/10.1016/j.cell.2012.06.028</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.cell.2012.06.028" target="_blank" >10.1016/j.cell.2012.06.028</a>
Alternative languages
Result language
angličtina
Original language name
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Original language description
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies.'' However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway. We demonstrate that, upon induced DNA damage, the NPHP-RC proteins ZNF423, CEP164, and NPHP10 colocalize to nuclear foci positive for TIP60, known to activate ATM at sites of DNA damage.
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
BO - Biophysics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cell
ISSN
0092-8674
e-ISSN
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Volume of the periodical
150
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
16
Pages from-to
533-548
UT code for WoS article
000307301400013
EID of the result in the Scopus database
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