Cargando…
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
Mutations in RNA-binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, limb, and neurological symptoms. Heterogeneous nuclear ribonucleoproteins (hnRNPs) are involved in nucleic acid binding, transcription, and splicing through direct binding to DNA and RNA, or throug...
Autores principales: | Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9073674/ https://www.ncbi.nlm.nih.gov/pubmed/35325113 http://dx.doi.org/10.1093/g3journal/jkac067 |
Ejemplares similares
-
Optimizing genotype quality metrics for individual exomes and cohort analysis
por: Gordon, Paul MK, et al.
Publicado: (2012) -
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
por: Zhao, Tian, et al.
Publicado: (2019) -
Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment
por: Wang, Ying, et al.
Publicado: (2017) -
Functional, structural, and molecular characterizations of the leukemogenic driver MEF2D-HNRNPUL1 fusion
por: Zhang, Ming, et al.
Publicado: (2022) -
Arginine methylation of hnRNPUL1 regulates interaction with NBS1 and recruitment to sites of DNA damage
por: Gurunathan, Gayathri, et al.
Publicado: (2015)