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 …

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 …

The exon-junction complex helicase eIF4A3 controls cell fate via coordinated regulation of ribosome biogenesis and translational output

DC Kanellis, JA Espinoza, A Zisi, E Sakkas… - Science …, 2021 - science.org
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 …

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 …

An RNAi screen of RNA helicases identifies eIF4A3 as a regulator of embryonic stem cell identity

D Li, J Yang, V Malik, Y Huang, X Huang… - Nucleic acids …, 2022 - academic.oup.com
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 …

The physiological roles of the exon junction complex in development and diseases

S Asthana, H Martin, J Rupkey, S Patel, J Yoon… - Cells, 2022 - mdpi.com
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 …

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 …

TOBF1 modulates mouse embryonic stem cell fate through regulating alternative splicing of pluripotency genes

M Aich, AH Ansari, L Ding, V Iesmantavicius, D Paul… - Cell Reports, 2023 - cell.com
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 …

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 …

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 …