FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2104885994> ?p ?o ?g. }

• W2104885994 abstract "Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms occur between chromosomes versus between or within chromatids has not been systematically investigated. We hypothesized that distinct CNV mutational mechanisms, based on their intrinsic properties, may occur in a biased intrachromosomal versus interchromosomal manner. Here, we studied 62 genomic duplications observed in association with sporadic Potocki-Lupski syndrome (PTLS), in which multiple mutational mechanisms appear to be operative. Intriguingly, more interchromosomal than intrachromosomal events were identified in recurrent PTLS duplications mediated by non-allelic homologous recombination, whereas the reciprocal distribution was found for replicative mechanisms and non-homologous end-joining, likely reflecting the differences in spacial proximity of homologous chromosomes during different mutational processes." @default.
• W2104885994 created "2016-06-24" @default.
• W2104885994 creator A5000612576 @default.
• W2104885994 creator A5002014068 @default.
• W2104885994 creator A5022934107 @default.
• W2104885994 creator A5029636776 @default.
• W2104885994 creator A5079386874 @default.
• W2104885994 creator A5080662028 @default.
• W2104885994 creator A5084027644 @default.
• W2104885994 date "2012-11-16" @default.
• W2104885994 modified "2023-09-23" @default.
• W2104885994 title "Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome" @default.
• W2104885994 cites W1517532080 @default.
• W2104885994 cites W1608063239 @default.
• W2104885994 cites W1968206926 @default.
• W2104885994 cites W1969273522 @default.
• W2104885994 cites W1979250362 @default.
• W2104885994 cites W1979879639 @default.
• W2104885994 cites W1984455464 @default.
• W2104885994 cites W1988054740 @default.
• W2104885994 cites W2002252858 @default.
• W2104885994 cites W2005191830 @default.
• W2104885994 cites W2011484621 @default.
• W2104885994 cites W2017151800 @default.
• W2104885994 cites W2026269915 @default.
• W2104885994 cites W2027503069 @default.
• W2104885994 cites W2034979835 @default.
• W2104885994 cites W2035380874 @default.
• W2104885994 cites W2035997553 @default.
• W2104885994 cites W2042482078 @default.
• W2104885994 cites W2044354585 @default.
• W2104885994 cites W2045040686 @default.
• W2104885994 cites W2056657560 @default.
• W2104885994 cites W2058336786 @default.
• W2104885994 cites W2059241865 @default.
• W2104885994 cites W2060453248 @default.
• W2104885994 cites W2067338267 @default.
• W2104885994 cites W2071026538 @default.
• W2104885994 cites W2075077955 @default.
• W2104885994 cites W2081551908 @default.
• W2104885994 cites W2090674469 @default.
• W2104885994 cites W2101856864 @default.
• W2104885994 cites W2106982327 @default.
• W2104885994 cites W2112438558 @default.
• W2104885994 cites W2141737525 @default.
• W2104885994 cites W2147429782 @default.
• W2104885994 cites W2162927194 @default.
• W2104885994 cites W2171787074 @default.
• W2104885994 doi "https://doi.org/10.1093/hmg/dds482" @default.
• W2104885994 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3554201" @default.
• W2104885994 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23161748" @default.
• W2104885994 hasPublicationYear "2012" @default.
• W2104885994 type Work @default.
• W2104885994 sameAs 2104885994 @default.
• W2104885994 citedByCount "11" @default.
• W2104885994 countsByYear W21048859942013 @default.
• W2104885994 countsByYear W21048859942014 @default.
• W2104885994 countsByYear W21048859942015 @default.
• W2104885994 countsByYear W21048859942016 @default.
• W2104885994 countsByYear W21048859942018 @default.
• W2104885994 countsByYear W21048859942019 @default.
• W2104885994 crossrefType "journal-article" @default.
• W2104885994 hasAuthorship W2104885994A5000612576 @default.
• W2104885994 hasAuthorship W2104885994A5002014068 @default.
• W2104885994 hasAuthorship W2104885994A5022934107 @default.
• W2104885994 hasAuthorship W2104885994A5029636776 @default.
• W2104885994 hasAuthorship W2104885994A5079386874 @default.
• W2104885994 hasAuthorship W2104885994A5080662028 @default.
• W2104885994 hasAuthorship W2104885994A5084027644 @default.
• W2104885994 hasBestOaLocation W21048859941 @default.
• W2104885994 hasConcept C101434241 @default.
• W2104885994 hasConcept C102744134 @default.
• W2104885994 hasConcept C104317684 @default.
• W2104885994 hasConcept C120821319 @default.
• W2104885994 hasConcept C141231307 @default.
• W2104885994 hasConcept C156695909 @default.
• W2104885994 hasConcept C30481170 @default.
• W2104885994 hasConcept C501734568 @default.
• W2104885994 hasConcept C54355233 @default.
• W2104885994 hasConcept C57808653 @default.
• W2104885994 hasConcept C5911399 @default.
• W2104885994 hasConcept C64894306 @default.
• W2104885994 hasConcept C73397532 @default.
• W2104885994 hasConcept C7602840 @default.
• W2104885994 hasConcept C82040048 @default.
• W2104885994 hasConcept C86803240 @default.
• W2104885994 hasConceptScore W2104885994C101434241 @default.
• W2104885994 hasConceptScore W2104885994C102744134 @default.
• W2104885994 hasConceptScore W2104885994C104317684 @default.
• W2104885994 hasConceptScore W2104885994C120821319 @default.
• W2104885994 hasConceptScore W2104885994C141231307 @default.
• W2104885994 hasConceptScore W2104885994C156695909 @default.
• W2104885994 hasConceptScore W2104885994C30481170 @default.
• W2104885994 hasConceptScore W2104885994C501734568 @default.
• W2104885994 hasConceptScore W2104885994C54355233 @default.
• W2104885994 hasConceptScore W2104885994C57808653 @default.
• W2104885994 hasConceptScore W2104885994C5911399 @default.
• W2104885994 hasConceptScore W2104885994C64894306 @default.
• W2104885994 hasConceptScore W2104885994C73397532 @default.
• W2104885994 hasConceptScore W2104885994C7602840 @default.

• next