FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079531131> ?p ?o ?g. }

• W2079531131 endingPage "e1002843" @default.
• W2079531131 startingPage "e1002843" @default.
• W2079531131 abstract "Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology of TOF. Using high-resolution genome-wide microarrays and stringent calling methods, we investigated rare CNVs in a prospectively recruited cohort of 433 unrelated adults with TOF and/or pulmonary atresia at a single centre. We excluded those with recognized syndromes, including 22q11.2 deletion syndrome. We identified candidate genes for TOF based on converging evidence between rare CNVs that overlapped the same gene in unrelated individuals and from pathway analyses comparing rare CNVs in TOF cases to those in epidemiologic controls. Even after excluding the 53 (10.7%) subjects with 22q11.2 deletions, we found that adults with TOF had a greater burden of large rare genic CNVs compared to controls (8.82% vs. 4.33%, p = 0.0117). Six loci showed evidence for recurrence in TOF or related congenital heart disease, including typical 1q21.1 duplications in four (1.18%) of 340 Caucasian probands. The rare CNVs implicated novel candidate genes of interest for TOF, including PLXNA2, a gene involved in semaphorin signaling. Independent pathway analyses highlighted developmental processes as potential contributors to the pathogenesis of TOF. These results indicate that individually rare CNVs are collectively significant contributors to the genetic burden of TOF. Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models." @default.
• W2079531131 created "2016-06-24" @default.
• W2079531131 creator A5009995418 @default.
• W2079531131 creator A5010902712 @default.
• W2079531131 creator A5035343631 @default.
• W2079531131 creator A5049296994 @default.
• W2079531131 creator A5050099013 @default.
• W2079531131 creator A5055989261 @default.
• W2079531131 creator A5071965611 @default.
• W2079531131 creator A5072404345 @default.
• W2079531131 creator A5077818820 @default.
• W2079531131 creator A5085885383 @default.
• W2079531131 creator A5090808126 @default.
• W2079531131 creator A5090963267 @default.
• W2079531131 date "2012-08-09" @default.
• W2079531131 modified "2023-10-16" @default.
• W2079531131 title "Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways" @default.
• W2079531131 cites W159449916 @default.
• W2079531131 cites W1964695940 @default.
• W2079531131 cites W1967437307 @default.
• W2079531131 cites W1967836288 @default.
• W2079531131 cites W1968040844 @default.
• W2079531131 cites W1972698810 @default.
• W2079531131 cites W1975066506 @default.
• W2079531131 cites W1977838689 @default.
• W2079531131 cites W1978934956 @default.
• W2079531131 cites W1980740976 @default.
• W2079531131 cites W1986002337 @default.
• W2079531131 cites W1997393389 @default.
• W2079531131 cites W1998465906 @default.
• W2079531131 cites W1999674531 @default.
• W2079531131 cites W2002732720 @default.
• W2079531131 cites W2002969945 @default.
• W2079531131 cites W2007733142 @default.
• W2079531131 cites W2009318174 @default.
• W2079531131 cites W2013281213 @default.
• W2079531131 cites W2035631829 @default.
• W2079531131 cites W2044137549 @default.
• W2079531131 cites W2044823121 @default.
• W2079531131 cites W2045775154 @default.
• W2079531131 cites W2051977513 @default.
• W2079531131 cites W2055613750 @default.
• W2079531131 cites W2059145105 @default.
• W2079531131 cites W2061141706 @default.
• W2079531131 cites W2064204236 @default.
• W2079531131 cites W2064659330 @default.
• W2079531131 cites W2066018706 @default.
• W2079531131 cites W2068398512 @default.
• W2079531131 cites W2072008562 @default.
• W2079531131 cites W2073228416 @default.
• W2079531131 cites W2077016335 @default.
• W2079531131 cites W2083904901 @default.
• W2079531131 cites W2091644892 @default.
• W2079531131 cites W2094015041 @default.
• W2079531131 cites W2094281807 @default.
• W2079531131 cites W2094920719 @default.
• W2079531131 cites W2097948046 @default.
• W2079531131 cites W2098380802 @default.
• W2079531131 cites W2099613443 @default.
• W2079531131 cites W2101375380 @default.
• W2079531131 cites W2103444420 @default.
• W2079531131 cites W2106982327 @default.
• W2079531131 cites W2107555330 @default.
• W2079531131 cites W2109810791 @default.
• W2079531131 cites W2110374888 @default.
• W2079531131 cites W2118376438 @default.
• W2079531131 cites W2119907069 @default.
• W2079531131 cites W2122965970 @default.
• W2079531131 cites W2129559300 @default.
• W2079531131 cites W2129600117 @default.
• W2079531131 cites W2130565018 @default.
• W2079531131 cites W2131587128 @default.
• W2079531131 cites W2134054804 @default.
• W2079531131 cites W2135554379 @default.
• W2079531131 cites W2140968934 @default.
• W2079531131 cites W2141882676 @default.
• W2079531131 cites W2148375722 @default.
• W2079531131 cites W2155582359 @default.
• W2079531131 cites W2155707112 @default.
• W2079531131 cites W2158591109 @default.
• W2079531131 cites W2163177727 @default.
• W2079531131 cites W2164608717 @default.
• W2079531131 cites W2169055103 @default.
• W2079531131 cites W2170417219 @default.
• W2079531131 cites W2170792029 @default.
• W2079531131 cites W2253685848 @default.
• W2079531131 cites W2304356514 @default.
• W2079531131 cites W2319601890 @default.
• W2079531131 cites W2414270086 @default.
• W2079531131 doi "https://doi.org/10.1371/journal.pgen.1002843" @default.
• W2079531131 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3415418" @default.
• W2079531131 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22912587" @default.
• W2079531131 hasPublicationYear "2012" @default.
• W2079531131 type Work @default.
• W2079531131 sameAs 2079531131 @default.
• W2079531131 citedByCount "152" @default.
• W2079531131 countsByYear W20795311312013 @default.
• W2079531131 countsByYear W20795311312014 @default.

• next