| http://purl.uniprot.org/citations/32579612 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32579612 | http://www.w3.org/2000/01/rdf-schema#comment | "While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of neuronal defects. We report a systematic functional analysis of non-neuronal defects for homologs of 59 genes within ten pathogenic CNVs and 20 neurodevelopmental genes in Drosophila melanogaster. Using wing-specific knockdown of 136 RNA interference lines, we identified qualitative and quantitative phenotypes in 72/79 homologs, including 21 lines with severe wing defects and six lines with lethality. In fact, we found that 10/31 homologs of CNV genes also showed complete or partial lethality at larval or pupal stages with ubiquitous knockdown. Comparisons between eye and wing-specific knockdown of 37/45 homologs showed both neuronal and non-neuronal defects, but with no correlation in the severity of defects. We further observed disruptions in cell proliferation and apoptosis in larval wing discs for 23/27 homologs, and altered Wnt, Hedgehog and Notch signaling for 9/14 homologs, including AATF/Aatf, PPP4C/Pp4-19C, and KIF11/Klp61F. These findings were further supported by tissue-specific differences in expression patterns of human CNV genes, as well as connectivity of CNV genes to signaling pathway genes in brain, heart and kidney-specific networks. Our findings suggest that multiple genes within each CNV differentially affect both global and tissue-specific developmental processes within conserved pathways, and that their roles are not restricted to neuronal functions."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1008792"xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Lai Z.C."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Jensen M."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Girirajan S."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Matsui Y."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Karthikeyan S."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Iyer J."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Gould D.J."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Sarker A."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Yusuff T."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Pizzo L."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Gedvilaite E."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/author | "Yennawar S."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/name | "PLoS Genet"xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/pages | "e1008792"xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/title | "Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development."xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://purl.uniprot.org/core/volume | "16"xsd:string |
| http://purl.uniprot.org/citations/32579612 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32579612 |
| http://purl.uniprot.org/citations/32579612 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32579612 |
| http://purl.uniprot.org/uniprot/#_A0A0B4LF73-mappedCitation-32579612 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32579612 |
| http://purl.uniprot.org/uniprot/#_A0A0B4LFE7-mappedCitation-32579612 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32579612 |
| http://purl.uniprot.org/uniprot/#_Q0PQ30-mappedCitation-32579612 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32579612 |