FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2048589996> ?p ?o ?g. }

• W2048589996 endingPage "1506" @default.
• W2048589996 startingPage "1500" @default.
• W2048589996 abstract "Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, signal and repair damage. RNF168 (ring-finger nuclear factor) contributes to this emerging pathway of several E3 ubiquitin ligases that perform sequential ubiquitylations on damaged chromosomes, chromatin modifications essential for aggregation of repair complexes at the DSB sites. Here, we report the clinical and cellular phenotypes associated with a newly identified homozygous nonsense mutation in the RNF168 gene of a patient with a syndrome mimicking ataxia-telangiectasia. The mutation eliminated both of RNF168's ubiquitin-binding motifs, thus blocking progression of the ubiquitylation cascade and retention of repair proteins including tumor suppressors 53BP1 and BRCA1 at DSB sites, consistent with the observed defective DNA damage checkpoints/repair and pronounced radiosensitivity. Rapid screening for RNF168 pathway deficiency was achieved by scoring patients' lymphoblastoid cells for irradiation-induced nuclear foci containing 53BP1, a robust assay we propose for future diagnostic applications. The formation of radiation-induced DSB repair foci was rescued by ectopic expression of wild-type RNF168 in patient's cells, further causally linking the RNF168 mutation with the pathology. Clinically, this novel syndrome featured ataxia, telangiectasia, elevated alphafetoprotein, immunodeficiency, microcephaly and pulmonary failure and has implications for the differential diagnosis of autosomal recessive ataxias." @default.
• W2048589996 created "2016-06-24" @default.
• W2048589996 creator A5007280724 @default.
• W2048589996 creator A5019974594 @default.
• W2048589996 creator A5025222772 @default.
• W2048589996 creator A5035498575 @default.
• W2048589996 creator A5058266096 @default.
• W2048589996 creator A5060390908 @default.
• W2048589996 creator A5065037366 @default.
• W2048589996 creator A5066292574 @default.
• W2048589996 creator A5067202026 @default.
• W2048589996 creator A5090729430 @default.
• W2048589996 date "2011-03-11" @default.
• W2048589996 modified "2023-10-09" @default.
• W2048589996 title "Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia" @default.
• W2048589996 cites W1571145613 @default.
• W2048589996 cites W1965239527 @default.
• W2048589996 cites W1966593626 @default.
• W2048589996 cites W1967770761 @default.
• W2048589996 cites W1973030224 @default.
• W2048589996 cites W1974755980 @default.
• W2048589996 cites W1978331091 @default.
• W2048589996 cites W1988280121 @default.
• W2048589996 cites W1988524165 @default.
• W2048589996 cites W1993057741 @default.
• W2048589996 cites W2001403475 @default.
• W2048589996 cites W2012071848 @default.
• W2048589996 cites W2018265278 @default.
• W2048589996 cites W2019431738 @default.
• W2048589996 cites W2021044341 @default.
• W2048589996 cites W2039846010 @default.
• W2048589996 cites W2046083330 @default.
• W2048589996 cites W2054782539 @default.
• W2048589996 cites W2059183599 @default.
• W2048589996 cites W2059424997 @default.
• W2048589996 cites W2059971436 @default.
• W2048589996 cites W2061462200 @default.
• W2048589996 cites W2066353440 @default.
• W2048589996 cites W2078544177 @default.
• W2048589996 cites W2082559623 @default.
• W2048589996 cites W2085453224 @default.
• W2048589996 cites W2086333179 @default.
• W2048589996 cites W2091073356 @default.
• W2048589996 cites W2094942174 @default.
• W2048589996 cites W2096813414 @default.
• W2048589996 cites W2098261813 @default.
• W2048589996 cites W2108669832 @default.
• W2048589996 cites W2121728615 @default.
• W2048589996 cites W2131827278 @default.
• W2048589996 cites W2143557924 @default.
• W2048589996 cites W2145200068 @default.
• W2048589996 cites W2148095347 @default.
• W2048589996 cites W2164750642 @default.
• W2048589996 doi "https://doi.org/10.1038/cdd.2011.18" @default.
• W2048589996 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3178430" @default.
• W2048589996 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21394101" @default.
• W2048589996 hasPublicationYear "2011" @default.
• W2048589996 type Work @default.
• W2048589996 sameAs 2048589996 @default.
• W2048589996 citedByCount "71" @default.
• W2048589996 countsByYear W20485899962012 @default.
• W2048589996 countsByYear W20485899962013 @default.
• W2048589996 countsByYear W20485899962014 @default.
• W2048589996 countsByYear W20485899962015 @default.
• W2048589996 countsByYear W20485899962016 @default.
• W2048589996 countsByYear W20485899962017 @default.
• W2048589996 countsByYear W20485899962018 @default.
• W2048589996 countsByYear W20485899962019 @default.
• W2048589996 countsByYear W20485899962020 @default.
• W2048589996 countsByYear W20485899962021 @default.
• W2048589996 countsByYear W20485899962022 @default.
• W2048589996 countsByYear W20485899962023 @default.
• W2048589996 crossrefType "journal-article" @default.
• W2048589996 hasAuthorship W2048589996A5007280724 @default.
• W2048589996 hasAuthorship W2048589996A5019974594 @default.
• W2048589996 hasAuthorship W2048589996A5025222772 @default.
• W2048589996 hasAuthorship W2048589996A5035498575 @default.
• W2048589996 hasAuthorship W2048589996A5058266096 @default.
• W2048589996 hasAuthorship W2048589996A5060390908 @default.
• W2048589996 hasAuthorship W2048589996A5065037366 @default.
• W2048589996 hasAuthorship W2048589996A5066292574 @default.
• W2048589996 hasAuthorship W2048589996A5067202026 @default.
• W2048589996 hasAuthorship W2048589996A5090729430 @default.
• W2048589996 hasBestOaLocation W20485899961 @default.
• W2048589996 hasConcept C104317684 @default.
• W2048589996 hasConcept C134459356 @default.
• W2048589996 hasConcept C134935766 @default.
• W2048589996 hasConcept C143425029 @default.
• W2048589996 hasConcept C178169997 @default.
• W2048589996 hasConcept C25602115 @default.
• W2048589996 hasConcept C2775984157 @default.
• W2048589996 hasConcept C2777136964 @default.
• W2048589996 hasConcept C2779486608 @default.
• W2048589996 hasConcept C501734568 @default.
• W2048589996 hasConcept C502942594 @default.
• W2048589996 hasConcept C54355233 @default.
• W2048589996 hasConcept C552990157 @default.
• W2048589996 hasConcept C71924100 @default.

• next