[HTML][HTML] Mediator complex in transcription regulation and DNA repair: Relevance for human diseases
CA Maalouf, A Alberti, J Soutourina - DNA repair, 2024 - Elsevier
The Mediator complex is an essential coregulator of RNA polymerase II transcription. More
recent developments suggest Mediator functions as a link between transcription regulation …
recent developments suggest Mediator functions as a link between transcription regulation …
GBF1 deficiency causes cataracts in human and mouse
W Jia, C Zhang, Y Luo, J Gao, C Yuan, D Zhang… - Human Genetics, 2024 - Springer
Any opacification of the lens can be defined as cataracts, and lens epithelium cells play a
crucial role in guaranteeing lens transparency by maintaining its homeostasis. Although …
crucial role in guaranteeing lens transparency by maintaining its homeostasis. Although …
Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research
G Wu, R Lian, M Li, L Jin, T Jia, L Wang, L Gan, S Zhao… - Heliyon, 2024 - cell.com
Background Neurodevelopmental disorder with spasticity, cataracts, and cerebellar
hypoplasia (NEDSCAC), induced by MED27 gene, is an autosomal recessive rare disorder …
hypoplasia (NEDSCAC), induced by MED27 gene, is an autosomal recessive rare disorder …