Ontology highlight
ABSTRACT:
SUBMITTER: Alharatani R
PROVIDER: S-EPMC7372553 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Alharatani Reham R Ververi Athina A Beleza-Meireles Ana A Ji Weizhen W Mis Emily E Patterson Quinten T QT Griffin John N JN Bhujel Nabina N Chang Caitlin A CA Dixit Abhijit A Konstantino Monica M Healy Christopher C Hannan Sumayyah S Neo Natsuko N Cash Alex A Li Dong D Bhoj Elizabeth E Zackai Elaine H EH Cleaver Ruth R Baralle Diana D McEntagart Meriel M Newbury-Ecob Ruth R Scott Richard R Hurst Jane A JA Au Ping Yee Billie PYB Hosey Marie Therese MT Khokha Mustafa M Marciano Denise K DK Lakhani Saquib A SA Liu Karen J KJ
Human molecular genetics 20200701 11
CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from ...[more]