| http://purl.uniprot.org/citations/28686854 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28686854 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28686854 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern. Here we report 11 individuals with HGF from three unrelated families. Whole-exome sequencing (WES) revealed three different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing transcription factor (REST) in the probands from all families and further genetic and genomic analyses confirmed the WES-identified findings. REST is a transcriptional repressor that is expressed throughout the body; it has different roles in different cellular contexts, such as oncogenic and tumor-suppressor functions and hematopoietic and cardiac differentiation. Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2017.06.006"xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2017.06.006"xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Gibbs R.A."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Carvalho C.M.B."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Carvalho C.M.B."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Kasapcopur O."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Kasapcopur O."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Begtrup A."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Begtrup A."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Jhangiani S.N."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Jhangiani S.N."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Karaca E."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Karaca E."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Pehlivan D."xsd:string |
| http://purl.uniprot.org/citations/28686854 | http://purl.uniprot.org/core/author | "Pehlivan D."xsd:string |