Cargando…
New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in RNU4ATAC, transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformation disorders named Taybi–Linder (TALS/MOPD1), Roifm...
Autores principales: | Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800510/ https://www.ncbi.nlm.nih.gov/pubmed/31175170 http://dx.doi.org/10.1261/rna.071423.119 |
Ejemplares similares
-
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex
por: Almentina Ramos Shidi, Fatimat, et al.
Publicado: (2022) -
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
por: Benoit-Pilven, Clara, et al.
Publicado: (2020) -
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
por: Khatri, Deepak, et al.
Publicado: (2023) -
Complementarity of assembly-first and mapping-first approaches for alternative splicing annotation and differential analysis from RNAseq data
por: Benoit-Pilven, Clara, et al.
Publicado: (2018) -
De tal palo, tal astilla /
por: Pereda, José María de, 1833-1906
Publicado: (1996)