FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000600865> ?p ?o ?g. }

• W2000600865 endingPage "e26195" @default.
• W2000600865 startingPage "e26195" @default.
• W2000600865 abstract "The OFD1 (oral-facial-digital, type 1) gene is implicated in several developmental disorders in humans. The X-linked OFD1 (OFD1X) is conserved in Eutheria. Knowledge about the Y-linked paralog (OFD1Y) is limited. In this study, we identified an OFD1Y on the bovine Y chromosome, which is expressed differentially from the bovine OFD1X. Phylogenetic analysis indicated that: a) the eutherian OFD1X and OFD1Y were derived from the pair of ancestral autosomes during sex chromosome evolution; b) the autosomal OFD1 pseudogenes, present in Catarrhini and Murinae, were derived from retropositions of OFD1X after the divergence of primates and rodents; and c) the presence of OFD1Y in the ampliconic region of the primate Y chromosome is an indication that the expansion of the ampliconic region may initiate from the X-degenerated sequence. In addition, we found that different regions of OFD1/OFD1X/OFD1Y are under differential selection pressures. The C-terminal half of OFD1 is under relaxed selection with an elevated Ka/Ks ratio and clustered positively selected sites, whereas the N-terminal half is under stronger constraints. This study provides some insights into why the OFD1X gene causes OFD1 (male-lethal X-linked dominant) and SGBS2 & JSRDs (X-linked recessive) syndromes in humans, and reveals the origin and evolution of the OFD1 family, which will facilitate further clinical investigation of the OFD1-related syndromes." @default.
• W2000600865 created "2016-06-24" @default.
• W2000600865 creator A5018625307 @default.
• W2000600865 creator A5059798494 @default.
• W2000600865 creator A5085550920 @default.
• W2000600865 date "2011-10-14" @default.
• W2000600865 modified "2023-10-16" @default.
• W2000600865 title "Regional Selection Acting on the OFD1 Gene Family" @default.
• W2000600865 cites W1963957860 @default.
• W2000600865 cites W1968830099 @default.
• W2000600865 cites W1988904864 @default.
• W2000600865 cites W1989882597 @default.
• W2000600865 cites W1994677936 @default.
• W2000600865 cites W2003463914 @default.
• W2000600865 cites W2004293751 @default.
• W2000600865 cites W2006195332 @default.
• W2000600865 cites W2010562366 @default.
• W2000600865 cites W2011623789 @default.
• W2000600865 cites W2018075425 @default.
• W2000600865 cites W2023273561 @default.
• W2000600865 cites W2039628033 @default.
• W2000600865 cites W2040770546 @default.
• W2000600865 cites W2044321794 @default.
• W2000600865 cites W2049876198 @default.
• W2000600865 cites W2052381999 @default.
• W2000600865 cites W2058536769 @default.
• W2000600865 cites W2068598872 @default.
• W2000600865 cites W2069773914 @default.
• W2000600865 cites W2077266233 @default.
• W2000600865 cites W2078075583 @default.
• W2000600865 cites W2081869368 @default.
• W2000600865 cites W2082109223 @default.
• W2000600865 cites W2096159130 @default.
• W2000600865 cites W2096413602 @default.
• W2000600865 cites W2096495474 @default.
• W2000600865 cites W2097977090 @default.
• W2000600865 cites W2103546861 @default.
• W2000600865 cites W2104764309 @default.
• W2000600865 cites W2109627636 @default.
• W2000600865 cites W2110335151 @default.
• W2000600865 cites W2112101855 @default.
• W2000600865 cites W2112821834 @default.
• W2000600865 cites W2115269983 @default.
• W2000600865 cites W2122194305 @default.
• W2000600865 cites W2124589223 @default.
• W2000600865 cites W2126212740 @default.
• W2000600865 cites W2132629607 @default.
• W2000600865 cites W2133536539 @default.
• W2000600865 cites W2135979384 @default.
• W2000600865 cites W2136145671 @default.
• W2000600865 cites W2137015675 @default.
• W2000600865 cites W2138008048 @default.
• W2000600865 cites W2143255074 @default.
• W2000600865 cites W2146058063 @default.
• W2000600865 cites W2153452535 @default.
• W2000600865 cites W2155201844 @default.
• W2000600865 cites W2156674957 @default.
• W2000600865 cites W2158714788 @default.
• W2000600865 cites W2158766159 @default.
• W2000600865 cites W2159957100 @default.
• W2000600865 cites W2161005382 @default.
• W2000600865 cites W2163035368 @default.
• W2000600865 cites W4242105792 @default.
• W2000600865 cites W4254275792 @default.
• W2000600865 doi "https://doi.org/10.1371/journal.pone.0026195" @default.
• W2000600865 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3193505" @default.
• W2000600865 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22022562" @default.
• W2000600865 hasPublicationYear "2011" @default.
• W2000600865 type Work @default.
• W2000600865 sameAs 2000600865 @default.
• W2000600865 citedByCount "9" @default.
• W2000600865 countsByYear W20006008652013 @default.
• W2000600865 countsByYear W20006008652014 @default.
• W2000600865 countsByYear W20006008652015 @default.
• W2000600865 countsByYear W20006008652019 @default.
• W2000600865 countsByYear W20006008652020 @default.
• W2000600865 countsByYear W20006008652022 @default.
• W2000600865 crossrefType "journal-article" @default.
• W2000600865 hasAuthorship W2000600865A5018625307 @default.
• W2000600865 hasAuthorship W2000600865A5059798494 @default.
• W2000600865 hasAuthorship W2000600865A5085550920 @default.
• W2000600865 hasBestOaLocation W20006008651 @default.
• W2000600865 hasConcept C104317684 @default.
• W2000600865 hasConcept C134925867 @default.
• W2000600865 hasConcept C141231307 @default.
• W2000600865 hasConcept C30481170 @default.
• W2000600865 hasConcept C34957205 @default.
• W2000600865 hasConcept C35158069 @default.
• W2000600865 hasConcept C54355233 @default.
• W2000600865 hasConcept C78458016 @default.
• W2000600865 hasConcept C86803240 @default.
• W2000600865 hasConceptScore W2000600865C104317684 @default.
• W2000600865 hasConceptScore W2000600865C134925867 @default.
• W2000600865 hasConceptScore W2000600865C141231307 @default.
• W2000600865 hasConceptScore W2000600865C30481170 @default.
• W2000600865 hasConceptScore W2000600865C34957205 @default.
• W2000600865 hasConceptScore W2000600865C35158069 @default.
• W2000600865 hasConceptScore W2000600865C54355233 @default.

• next