In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 130-132

  Bellais, Samuel ^a   Le Goff, Carine ^a   Dagoneau, Nathalie ^a   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

gentamycin; lethal condition; premature termination codon readthrough; St ve Wiedemann Syndrome

Indexed keywords

GENTAMICIN; JANUS KINASE; MESSENGER RNA; STAT3 PROTEIN; LEUKEMIA INHIBITORY FACTOR; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA; LIFR PROTEIN, HUMAN; STAT PROTEIN;

ARTICLE; CELL CULTURE; CHONDRODYSPLASIA; CODON; CONTROLLED STUDY; GENE; HUMAN; HUMAN CELL; IN VITRO STUDY; LEUKEMIA INHIBITORY FACTOR RECEPTOR GENE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; STUVE WIEDEMANN SYNDROME; DRUG EFFECT; ENZYME ACTIVATION; ENZYMOLOGY; FIBROBLAST; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; SIGNAL TRANSDUCTION; STOP CODON; SYNDROME;

ABNORMALITIES, MULTIPLE; CODON, TERMINATOR; ENZYME ACTIVATION; FIBROBLASTS; GENTAMICINS; HUMANS; JANUS KINASES; LEUKEMIA INHIBITORY FACTOR; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT; SIGNAL TRANSDUCTION; STAT TRANSCRIPTION FACTORS; SYNDROME;

EID: 77449140016     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.122     Document Type: Article

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