Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
Gene regulatory network from cranial neural crest cells to osteoblast differentiation and calvarial bone development
J Liao, Y Huang, Q Wang, S Chen, C Zhang… - Cellular and Molecular …, 2022 - Springer
Calvarial bone is one of the most complex sequences of developmental events in
embryology, featuring a uniquely transient, pluripotent stem cell-like population known as …
embryology, featuring a uniquely transient, pluripotent stem cell-like population known as …
The exon-junction complex helicase eIF4A3 controls cell fate via coordinated regulation of ribosome biogenesis and translational output
Eukaryotic initiation factor 4A-III (eIF4A3), a core helicase component of the exon junction
complex, is essential for splicing, mRNA trafficking, and nonsense-mediated decay …
complex, is essential for splicing, mRNA trafficking, and nonsense-mediated decay …
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
MC Beauchamp, SS Alam, S Kumar… - Developmental …, 2020 - Wiley Online Library
Mutations in core components of the spliceosome are responsible for a group of syndromes
collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia …
collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia …
An RNAi screen of RNA helicases identifies eIF4A3 as a regulator of embryonic stem cell identity
RNA helicases are involved in multiple steps of RNA metabolism to direct their roles in gene
expression, yet their functions in pluripotency control remain largely unexplored. Starting …
expression, yet their functions in pluripotency control remain largely unexplored. Starting …
The physiological roles of the exon junction complex in development and diseases
The exon junction complex (EJC) becomes an increasingly important regulator of early gene
expression in the central nervous system (CNS) and other tissues. The EJC is comprised of …
expression in the central nervous system (CNS) and other tissues. The EJC is comprised of …
The core splicing factors EFTUD2, SNRPB and TXNL4A are essential for neural crest and craniofacial development
BY Park, M Tachi-Duprat, C Ihewulezi… - Journal of …, 2022 - mdpi.com
Mandibulofacial dysostosis (MFD) is a human congenital disorder characterized by
hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle …
hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle …
TOBF1 modulates mouse embryonic stem cell fate through regulating alternative splicing of pluripotency genes
Embryonic stem cells (ESCs) can undergo lineage-specific differentiation, giving rise to
different cell types that constitute an organism. Although roles of transcription factors and …
different cell types that constitute an organism. Although roles of transcription factors and …
Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β
E Goulart, LC de Caires-Junior, KA Telles-Silva… - Stem cell research & …, 2019 - Springer
Background Liver organoid technology holds great promises to be used in large-scale
population-based drug screening and in future regenerative medicine strategies. Recently …
population-based drug screening and in future regenerative medicine strategies. Recently …
Eukaryotic initiation factor 4 A-3 promotes glioblastoma growth and invasion through the Notch1-dependent pathway
L Wei, M Pan, Q Jiang, B Hu, J Zhao, C Zou, L Chen… - BMC cancer, 2023 - Springer
Background As an adult tumor with the most invasion and the highest mortality rate, the
inherent heterogeneity of glioblastoma (GBM) is the main factor that causes treatment …
inherent heterogeneity of glioblastoma (GBM) is the main factor that causes treatment …