FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4319461001> ?p ?o ?g. }

• W4319461001 endingPage "1281" @default.
• W4319461001 startingPage "1273" @default.
• W4319461001 abstract "The clinical heterogeneity in 22q11.2 deletion syndrome (22q11.2DS) underlies complex genetic mechanisms including variants in other regions of the genome, known as genetic modifiers. Congenital heart disease (CHD) is one of the most relevant phenotypes in the syndrome and copy number variants (CNVs) outside the 22q11.2 region could play a role in its variable expressivity. Since those described loci account for a small proportion of the variability, the CNV analysis in new cohorts from different ancestry-based populations constitutes a valuable resource to identify a wider range of modifiers. We performed SNP-array in 117 Brazilian patients with 22q11.2DS, with and without CHD, and leveraged genome-wide CNV analysis. After quality control, we selected 50 CNVs in 38 patients for downstream analysis. CNVs' genetic content and implicated biological pathways were compared between patients with and without CHD. CNV-affected genes in patients with CHD were enriched for several functional terms related to ubiquitination, transcription factor binding sites and miRNA targets, highlighting the complexity of the phenotype's expressivity. Cardiac-related genes were identified in both groups of patients suggesting that increasing risk and protective mechanisms could be involved. These genes and enriched pathways could indicate new modifiers to the cardiac phenotype in 22q11.2DS patients." @default.
• W4319461001 created "2023-02-09" @default.
• W4319461001 creator A5000893407 @default.
• W4319461001 creator A5004885681 @default.
• W4319461001 creator A5017198034 @default.
• W4319461001 creator A5043976150 @default.
• W4319461001 creator A5047425363 @default.
• W4319461001 creator A5056694317 @default.
• W4319461001 creator A5062075718 @default.
• W4319461001 creator A5077078206 @default.
• W4319461001 creator A5090498175 @default.
• W4319461001 date "2023-02-07" @default.
• W4319461001 modified "2023-10-17" @default.
• W4319461001 title "Phenotypic heterogeneity in 22q11.2 deletion syndrome: <scp>Copy Number Variants</scp> as genetic modifiers for congenital heart disease in a Brazilian cohort" @default.
• W4319461001 cites W1964903564 @default.
• W4319461001 cites W1992797971 @default.
• W4319461001 cites W2032880297 @default.
• W4319461001 cites W2034197594 @default.
• W4319461001 cites W2079881193 @default.
• W4319461001 cites W2084428196 @default.
• W4319461001 cites W2093106443 @default.
• W4319461001 cites W2097000949 @default.
• W4319461001 cites W2099085143 @default.
• W4319461001 cites W2104276565 @default.
• W4319461001 cites W2126275521 @default.
• W4319461001 cites W2136401976 @default.
• W4319461001 cites W2143837955 @default.
• W4319461001 cites W2149681218 @default.
• W4319461001 cites W2157171602 @default.
• W4319461001 cites W2166657289 @default.
• W4319461001 cites W2166972310 @default.
• W4319461001 cites W2230656280 @default.
• W4319461001 cites W2238514531 @default.
• W4319461001 cites W2253685848 @default.
• W4319461001 cites W2419598250 @default.
• W4319461001 cites W2470567162 @default.
• W4319461001 cites W2528333164 @default.
• W4319461001 cites W2609207868 @default.
• W4319461001 cites W2609685992 @default.
• W4319461001 cites W2610263288 @default.
• W4319461001 cites W2898841388 @default.
• W4319461001 cites W2968207218 @default.
• W4319461001 cites W3017259339 @default.
• W4319461001 cites W3032034316 @default.
• W4319461001 cites W3034933665 @default.
• W4319461001 cites W3089630552 @default.
• W4319461001 cites W3193738716 @default.
• W4319461001 cites W4220801573 @default.
• W4319461001 doi "https://doi.org/10.1002/ajmg.a.63145" @default.
• W4319461001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36751694" @default.
• W4319461001 hasPublicationYear "2023" @default.
• W4319461001 type Work @default.
• W4319461001 citedByCount "0" @default.
• W4319461001 crossrefType "journal-article" @default.
• W4319461001 hasAuthorship W4319461001A5000893407 @default.
• W4319461001 hasAuthorship W4319461001A5004885681 @default.
• W4319461001 hasAuthorship W4319461001A5017198034 @default.
• W4319461001 hasAuthorship W4319461001A5043976150 @default.
• W4319461001 hasAuthorship W4319461001A5047425363 @default.
• W4319461001 hasAuthorship W4319461001A5056694317 @default.
• W4319461001 hasAuthorship W4319461001A5062075718 @default.
• W4319461001 hasAuthorship W4319461001A5077078206 @default.
• W4319461001 hasAuthorship W4319461001A5090498175 @default.
• W4319461001 hasConcept C104317684 @default.
• W4319461001 hasConcept C106208931 @default.
• W4319461001 hasConcept C120821319 @default.
• W4319461001 hasConcept C126322002 @default.
• W4319461001 hasConcept C127716648 @default.
• W4319461001 hasConcept C135763542 @default.
• W4319461001 hasConcept C139275648 @default.
• W4319461001 hasConcept C141231307 @default.
• W4319461001 hasConcept C153209595 @default.
• W4319461001 hasConcept C2779134260 @default.
• W4319461001 hasConcept C2779688345 @default.
• W4319461001 hasConcept C2780074459 @default.
• W4319461001 hasConcept C54355233 @default.
• W4319461001 hasConcept C64618202 @default.
• W4319461001 hasConcept C71924100 @default.
• W4319461001 hasConcept C86803240 @default.
• W4319461001 hasConceptScore W4319461001C104317684 @default.
• W4319461001 hasConceptScore W4319461001C106208931 @default.
• W4319461001 hasConceptScore W4319461001C120821319 @default.
• W4319461001 hasConceptScore W4319461001C126322002 @default.
• W4319461001 hasConceptScore W4319461001C127716648 @default.
• W4319461001 hasConceptScore W4319461001C135763542 @default.
• W4319461001 hasConceptScore W4319461001C139275648 @default.
• W4319461001 hasConceptScore W4319461001C141231307 @default.
• W4319461001 hasConceptScore W4319461001C153209595 @default.
• W4319461001 hasConceptScore W4319461001C2779134260 @default.
• W4319461001 hasConceptScore W4319461001C2779688345 @default.
• W4319461001 hasConceptScore W4319461001C2780074459 @default.
• W4319461001 hasConceptScore W4319461001C54355233 @default.
• W4319461001 hasConceptScore W4319461001C64618202 @default.
• W4319461001 hasConceptScore W4319461001C71924100 @default.
• W4319461001 hasConceptScore W4319461001C86803240 @default.
• W4319461001 hasFunder F4320320997 @default.
• W4319461001 hasFunder F4320321091 @default.
• W4319461001 hasIssue "5" @default.

• next