Article
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
American journal of human genetics - 6 Apr 2017
Xu Mingchu, Xie Yajing Angela, Abouzeid Hana, Gordon Christopher T, Fiorentino Alessia, Sun Zixi, Lehman Anna, Osman Ihab S, Dharmat Rachayata, Riveiro-Alvarez Rosa, Bapst-Wicht Linda, Babino Darwin, Arno Gavin, Busetto Virginia, Zhao Li, Li Hui, Lopez-Martinez Miguel A, Azevedo Liliana F, Hubert Laurence, Pontikos Nikolas, Eblimit Aiden, Lorda-Sanchez Isabel, Kheir Valeria, Plagnol Vincent, Oufadem Myriam, Soens Zachry T, Yang Lizhu, Bole-Feysot Christine, Pfundt Rolph, Allaman-Pillet Nathalie, Nitschké Patrick, Cheetham Michael E, Lyonnet Stanislas, Agrawal Smriti A, Li Huajin, Pinton Gaëtan, Michaelides Michel, Besmond Claude, Li Yumei, Yuan Zhisheng, von Lintig Johannes, Webster Andrew R, Le Hir Hervé, Stoilov Peter, Amiel Jeanne, Hardcastle Alison J, Ayuso Carmen, Sui Ruifang, Chen Rui, Allikmets Rando, Schorderet Daniel F
Abstract excerpt
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated...
Read the complete abstract on PubMed