dc.contributor.author | CHO, Megan T. | |
dc.contributor.author | LUPSKI, James R. | |
dc.contributor.author | Ozturk, Sukru | |
dc.contributor.author | Pehlivan, Davut | |
dc.contributor.author | Palanduz, Sukru | |
dc.contributor.author | Cefle, Kivanc | |
dc.contributor.author | Kasapcopur, Ozgur | |
dc.contributor.author | Karaca, Ender | |
dc.contributor.author | Gedikbasi, Asuman | |
dc.contributor.author | Bektas-Kayhan, Kıvanç | |
dc.contributor.author | BAYRAM, Yavuz | |
dc.contributor.author | WHITE, Janson J. | |
dc.contributor.author | Elcioglu, Nursel | |
dc.contributor.author | ZADEH, Neda | |
dc.contributor.author | AKDEMIR, Zeynep Coban | |
dc.contributor.author | BEGTRUP, Amber | |
dc.contributor.author | CARVALHO, Claudia M. B. | |
dc.contributor.author | PAINE, Ingrid Sophie | |
dc.contributor.author | Mentes, Ali | |
dc.contributor.author | JHANGIANI, Shalini N. | |
dc.contributor.author | MUZNY, Donna M. | |
dc.contributor.author | GIBBS, Richard A. | |
dc.date.accessioned | 2021-03-03T20:22:37Z | |
dc.date.available | 2021-03-03T20:22:37Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | BAYRAM Y., WHITE J. J. , Elcioglu N., CHO M. T. , ZADEH N., Gedikbasi A., Palanduz S., Ozturk S., Cefle K., Kasapcopur O., et al., "REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.101, sa.1, ss.149-156, 2017 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.other | av_599997da-0792-4523-b3df-992cc323d2b8 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/63030 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2017.06.006 | |
dc.description.abstract | 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-exontruncating mutations in REST for organismal development and the association with the HGF phenotype. | |
dc.language.iso | eng | |
dc.subject | Temel Bilimler | |
dc.subject | Tıp | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Genetics | |
dc.subject | Molecular Biology | |
dc.subject | Genetics (clinical) | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.title | REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF HUMAN GENETICS | |
dc.contributor.department | , , | |
dc.identifier.volume | 101 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 149 | |
dc.identifier.endpage | 156 | |
dc.contributor.firstauthorID | 42092 | |