| http://purl.uniprot.org/citations/28926086 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28926086 | http://www.w3.org/2000/01/rdf-schema#comment | "Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous aetiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P. Two single nucleotide polymorphisms (SNPs), rs338217 and rs7649443, were statistically significant even at the genome-wide level (Ptrend = 9.70E-10 and Ptrend = 8.96E-09, respectively). Three other SNPs, rs9826379, rs6805920 and rs6583202, reached a suggestive genome-wide significance threshold (Ptrend < 1.00E-05). The location of the strongest individual SNP in the intronic sequence of the gene encoding DLG1 antisense RNA suggests that the true causal variant implicated in the risk of nsCL/P may affect the DLG1 gene expression level rather than structure of the encoded protein. In conclusion, we identified a novel cleft-susceptibility locus at chromosome 3q29 with a DLG1 as a novel candidate gene for this common craniofacial anomaly."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13141"xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Knapp M."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Ludwig K.U."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Mangold E."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Biedziak B."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Mostowska A."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Bohmer A.C."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Jagodzinski P.P."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Hozyasz K.K."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Wojcicki P."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Zukowski K."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Lasota A."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Zadurska M."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Heilmann-Heimbach S."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Budner M."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Daktera-Micker A."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/author | "Gaczkowska A."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/pages | "784-793"xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/title | "Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate."xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://purl.uniprot.org/core/volume | "93"xsd:string |
| http://purl.uniprot.org/citations/28926086 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28926086 |