Ontology highlight
ABSTRACT:
SUBMITTER: Zhang J
PROVIDER: S-EPMC5543723 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Zhang Jing J Gambin Tomasz T Yuan Bo B Szafranski Przemyslaw P Rosenfeld Jill A JA Balwi Mohammed Al MA Alswaid Abdulrahman A Al-Gazali Lihadh L Shamsi Aisha M Al AMA Komara Makanko M Ali Bassam R BR Roeder Elizabeth E McAuley Laura L Roy Daniel S DS Manchester David K DK Magoulas Pilar P King Lauren E LE Hannig Vickie V Bonneau Dominique D Denommé-Pichon Anne-Sophie AS Charif Majida M Besnard Thomas T Bézieau Stéphane S Cogné Benjamin B Andrieux Joris J Zhu Wenmiao W He Weimin W Vetrini Francesco F Ward Patricia A PA Cheung Sau Wai SW Bi Weimin W Eng Christine M CM Lupski James R JR Yang Yaping Y Patel Ankita A Lalani Seema R SR Xia Fan F Stankiewicz Paweł P
Human genetics 20170301 4
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing ...[more]