Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Tre...

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Veröffentlicht in:	Cell death & disease 2016-10, Vol.7 (10), p.e2397-e2397
Hauptverfasser:	de Peralta, Mauro S Porcel, Mouguelar, Valeria S, Sdrigotti, María Antonella, Ishiy, Felipe A A, Fanganiello, Roberto D, Passos-Bueno, Maria R, Coux, Gabriela, Calcaterra, Nora B
Format:	Artikel
Sprache:	eng
Schlagworte:	38 38/77 38/90 631/208/199 631/80/86 64 64/116 692/699/1670/1669 692/700/565/1436/2185 82 82/1 Animals Antibodies Apoptosis Biochemistry Biomedical and Life Sciences Cell Biology Cell Culture Congenital diseases Craniofacial Abnormalities - complications Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Danio rerio Deformities Embryo, Nonmammalian - metabolism Gene expression Gene Expression Profiling Gene Knockdown Techniques Humans Immunology Life Sciences Mandibulofacial Dysostosis - complications Mandibulofacial Dysostosis - genetics Mandibulofacial Dysostosis - pathology Mesoderm - metabolism Models, Biological Mutation Original original-article Oxidation-Reduction Phenotype Reactive Oxygen Species - metabolism RNA, Messenger - genetics RNA, Messenger - metabolism RNA-Binding Proteins - genetics RNA-Binding Proteins - metabolism Signal Transduction - genetics Transcription, Genetic Tumor Suppressor Protein p53 - metabolism Zebrafish - embryology Zebrafish - genetics Zebrafish Proteins - genetics Zebrafish Proteins - metabolism
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