Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifma...

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Detalles Bibliográficos
Autores principales: Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9992838/
https://www.ncbi.nlm.nih.gov/pubmed/36802443
http://dx.doi.org/10.1073/pnas.2102569120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9992838/
https://www.ncbi.nlm.nih.gov/pubmed/36802443
http://dx.doi.org/10.1073/pnas.2102569120

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