| http://purl.uniprot.org/citations/25579819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25579819 | http://www.w3.org/2000/01/rdf-schema#comment | "Summary Van der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2ยท6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the IRF6 region. The duplications and deletions of the chromosomal critical region in 1q32-q41 confirm the involvement of CNVs in IRF6 in South Indian VWS patients. Molecular network analysis of these and other cleft lip/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in IRF6 in causing VWS in the Indian population."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.org/dc/terms/identifier | "doi:10.1017/s0016672314000159"xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/author | "Prasad M."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/author | "Ramachandra N.B."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/author | "Veerappa A.M."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/author | "Manjegowda D.S."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/name | "Genet Res (Camb)"xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/pages | "e12"xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/title | "Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family."xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://purl.uniprot.org/core/volume | "96"xsd:string |
| http://purl.uniprot.org/citations/25579819 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25579819 |
| http://purl.uniprot.org/citations/25579819 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25579819 |
| http://purl.uniprot.org/uniprot/#_B2R762-mappedCitation-25579819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25579819 |
| http://purl.uniprot.org/uniprot/#_G0Z349-mappedCitation-25579819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25579819 |
| http://purl.uniprot.org/uniprot/#_O14896-mappedCitation-25579819 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25579819 |
| http://purl.uniprot.org/uniprot/B2R762 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25579819 |
| http://purl.uniprot.org/uniprot/G0Z349 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25579819 |
| http://purl.uniprot.org/uniprot/O14896 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25579819 |