Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045450711> ?p ?o ?g. }
- W2045450711 endingPage "1089" @default.
- W2045450711 startingPage "1077" @default.
- W2045450711 abstract "ABSTRACT RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund‐Thomson syndrome, RAPADILINO, and Baller‐Gerold syndrome are rare genetic disorders caused by mutations in the RECQL4 gene. These patients have significant skeletal developmental abnormalities including radial ray, limb and craniofacial defects. To investigate the role of Recql4 in the developing skeletal system, we generated Recql4 conditional knockout mice targeting the skeletal lineage. Inactivation of Recql4 using the Prx1‐Cre transgene led to limb abnormalities and craniosynostosis mimicking the major bone findings in human RECQL4 patients. These Prx1‐Cre + ;Recql4 fl/fl mice as well as Col2a1‐Cre + ;Recql4 fl/fl mice exhibited growth plate defects and an increased p53 response in affected tissues. Inactivation of Trp53 in these Recql4 mutants resulted in genetic rescue of the skeletal phenotypes, indicating an in vivo interaction between Recql4 and Trp53 , and p53 activation as an underlying mechanism for the developmental bone abnormalities in RECQL4 disorders. Our findings show that RECQL4 is critical for skeletal development by modulating p53 activity in vivo. © 2015 American Society for Bone and Mineral Research" @default.
- W2045450711 created "2016-06-24" @default.
- W2045450711 creator A5018393782 @default.
- W2045450711 creator A5025781271 @default.
- W2045450711 creator A5033378420 @default.
- W2045450711 creator A5042694502 @default.
- W2045450711 creator A5043979648 @default.
- W2045450711 creator A5045649756 @default.
- W2045450711 creator A5056344611 @default.
- W2045450711 creator A5063089353 @default.
- W2045450711 creator A5066687791 @default.
- W2045450711 creator A5067810544 @default.
- W2045450711 creator A5070112575 @default.
- W2045450711 creator A5077946108 @default.
- W2045450711 creator A5085971155 @default.
- W2045450711 date "2015-05-18" @default.
- W2045450711 modified "2023-10-14" @default.
- W2045450711 title "RECQL4 Regulates p53 Function In Vivo During Skeletogenesis" @default.
- W2045450711 cites W1515041668 @default.
- W2045450711 cites W1549792550 @default.
- W2045450711 cites W1724512254 @default.
- W2045450711 cites W1935801587 @default.
- W2045450711 cites W1963742875 @default.
- W2045450711 cites W1967436631 @default.
- W2045450711 cites W1967698481 @default.
- W2045450711 cites W1968676497 @default.
- W2045450711 cites W1970898019 @default.
- W2045450711 cites W1978518304 @default.
- W2045450711 cites W1997963513 @default.
- W2045450711 cites W2003946870 @default.
- W2045450711 cites W2009620509 @default.
- W2045450711 cites W2009951097 @default.
- W2045450711 cites W2023794544 @default.
- W2045450711 cites W2025180999 @default.
- W2045450711 cites W2032351175 @default.
- W2045450711 cites W2044387885 @default.
- W2045450711 cites W2050381468 @default.
- W2045450711 cites W2059830809 @default.
- W2045450711 cites W2062113330 @default.
- W2045450711 cites W2064081765 @default.
- W2045450711 cites W2064310741 @default.
- W2045450711 cites W2067286200 @default.
- W2045450711 cites W2067720504 @default.
- W2045450711 cites W2072799132 @default.
- W2045450711 cites W2076627274 @default.
- W2045450711 cites W2079754802 @default.
- W2045450711 cites W2089574530 @default.
- W2045450711 cites W2097763610 @default.
- W2045450711 cites W2101022917 @default.
- W2045450711 cites W2107277218 @default.
- W2045450711 cites W2126679757 @default.
- W2045450711 cites W2129223193 @default.
- W2045450711 cites W2130013201 @default.
- W2045450711 cites W2143090029 @default.
- W2045450711 cites W2144678992 @default.
- W2045450711 cites W2148855636 @default.
- W2045450711 cites W2149551358 @default.
- W2045450711 cites W2155640249 @default.
- W2045450711 cites W2159157712 @default.
- W2045450711 cites W2163242852 @default.
- W2045450711 cites W2164808256 @default.
- W2045450711 cites W2168050478 @default.
- W2045450711 cites W4212962560 @default.
- W2045450711 doi "https://doi.org/10.1002/jbmr.2436" @default.
- W2045450711 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25556649" @default.
- W2045450711 hasPublicationYear "2015" @default.
- W2045450711 type Work @default.
- W2045450711 sameAs 2045450711 @default.
- W2045450711 citedByCount "30" @default.
- W2045450711 countsByYear W20454507112015 @default.
- W2045450711 countsByYear W20454507112016 @default.
- W2045450711 countsByYear W20454507112017 @default.
- W2045450711 countsByYear W20454507112018 @default.
- W2045450711 countsByYear W20454507112019 @default.
- W2045450711 countsByYear W20454507112020 @default.
- W2045450711 countsByYear W20454507112021 @default.
- W2045450711 countsByYear W20454507112022 @default.
- W2045450711 countsByYear W20454507112023 @default.
- W2045450711 crossrefType "journal-article" @default.
- W2045450711 hasAuthorship W2045450711A5018393782 @default.
- W2045450711 hasAuthorship W2045450711A5025781271 @default.
- W2045450711 hasAuthorship W2045450711A5033378420 @default.
- W2045450711 hasAuthorship W2045450711A5042694502 @default.
- W2045450711 hasAuthorship W2045450711A5043979648 @default.
- W2045450711 hasAuthorship W2045450711A5045649756 @default.
- W2045450711 hasAuthorship W2045450711A5056344611 @default.
- W2045450711 hasAuthorship W2045450711A5063089353 @default.
- W2045450711 hasAuthorship W2045450711A5066687791 @default.
- W2045450711 hasAuthorship W2045450711A5067810544 @default.
- W2045450711 hasAuthorship W2045450711A5070112575 @default.
- W2045450711 hasAuthorship W2045450711A5077946108 @default.
- W2045450711 hasAuthorship W2045450711A5085971155 @default.
- W2045450711 hasBestOaLocation W20454507111 @default.
- W2045450711 hasConcept C104317684 @default.
- W2045450711 hasConcept C105951970 @default.
- W2045450711 hasConcept C127716648 @default.
- W2045450711 hasConcept C143065580 @default.
- W2045450711 hasConcept C207001950 @default.