Ontology highlight
ABSTRACT:
SUBMITTER: Bellais S
PROVIDER: S-EPMC2987166 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Bellais Samuel S Le Goff Carine C Dagoneau Nathalie N Munnich Arnold A Cormier-Daire Valérie V
European journal of human genetics : EJHG 20100101 1
The Stüve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, thus prompting us to investigate the impact of aminoglycosides on the readthrough of premature termination codons (PTCs). Culturing skin fibroblasts from three SWS patients and controls for 48 h in the presence of g ...[more]