The Mediator complex as a master regulator of transcription by RNA polymerase II

WF Richter, S Nayak, J Iwasa, DJ Taatjes - Nature Reviews Molecular …, 2022 - nature.com
The Mediator complex, which in humans is 1.4 MDa in size and includes 26 subunits,
controls many aspects of RNA polymerase II (Pol II) function. Apart from its size, a defining …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - nature.com
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Angel or Devil?-CDK8 as the new drug target

D Wu, Z Zhang, X Chen, Y Yan, X Liu - European Journal of Medicinal …, 2021 - Elsevier
Abstract Cyclin-dependent kinase 8 (CDK8) plays an momentous role in transcription
regulation by forming kinase module or transcription factor phosphorylation. A large number …

[HTML][HTML] Whole-genome sequencing to identify candidate genes for litter size and to uncover the variant function in goats (Capra hircus)

K Wang, X Liu, T Qi, Y Hui, H Yan, L Qu, X Lan, C Pan - Genomics, 2021 - Elsevier
To select candidate genes for goat prolificacy, we managed six multi-and six single-kid
female goats at the same feeding level and in the same management mode over a 4-year …

De novo variants in CDK19 are associated with a syndrome involving intellectual disability and epileptic encephalopathy

H Chung, X Mao, H Wang, YJ Park… - The American Journal of …, 2020 - cell.com
We identified three unrelated individuals with de novo missense variants in CDK19,
encoding a cyclin-dependent kinase protein family member that predominantly regulates …

[HTML][HTML] Mediator complex in neurological disease

C Schiano, L Luongo, S Maione, C Napoli - Life Sciences, 2023 - Elsevier
Neurological diseases, including traumatic brain injuries, stroke (haemorrhagic and
ischemic), and inherent neurodegenerative diseases cause acquired disability in humans …

Cyclin-dependent kinases and rare developmental disorders

P Colas - Orphanet Journal of Rare Diseases, 2020 - Springer
Extensive studies in the past 30 years have established that cyclin-dependent kinases
(CDKs) exert many diverse, important functions in a number of molecular and cellular …

[HTML][HTML] Decoding the PTM-switchboard of Notch

D Antfolk, C Antila, K Kemppainen, SKJ Landor… - … et Biophysica Acta (BBA …, 2019 - Elsevier
The developmentally indispensable Notch pathway exhibits a high grade of pleiotropism in
its biological output. Emerging evidence supports the notion of post-translational …

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - biorxiv, 2019 - biorxiv.org
De novo mutations (DNMs) in protein-coding genes are a well-established cause of
developmental disorders (DD). However, known DD-associated genes only account for a …

[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 …