Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes Dauwerse and colleagues report the identification of mutations in the genes encoding subunits of RNA polymerases I and III, which are involved in transcription of rRNA and tRNA, in individuals with Treacher Collins syndrome. These findings support the hypothesis that TCS is a ribosomopathy....

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Veröffentlicht in:	Nature genetics 2011-01, Vol.43 (1), p.20-22
Hauptverfasser:	Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144 631/208/737 692/699/1670/1669 Adult Agriculture Alleles Animal Genetics and Genomics Apoptosis Biological and medical sciences Biomedical and Life Sciences Biomedical research Biomedicine Biosynthesis brief-communication Cancer Research Cell cycle Child Child, Preschool Craniofacial dysostosis Diseases of the osteoarticular system Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genetic aspects Genetic Heterogeneity Genetics Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Health aspects Heterogeneity Human Genetics Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Mandibulofacial Dysostosis - enzymology Mandibulofacial Dysostosis - genetics Medical sciences Mutation Phenotype Physiological aspects Protein Subunits - genetics Risk factors RNA Polymerase I - genetics RNA Polymerase III - genetics RNA polymerases Transfer RNA
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