[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 …
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional
regulation. Biallelic MED27 variants have recently been suggested to be responsible for an …
regulation. Biallelic MED27 variants have recently been suggested to be responsible for an …
[HTML][HTML] Exercise in ozone-polluted air evokes pathological cardiac hypertrophy via up-regulation of nuclear lncRNA EYA4-au1 and recruiting Med11 to activating …
J Zhao, F Gong, Q Yang, R Yang, Z Yan, Z Xi… - Ecotoxicology and …, 2024 - Elsevier
Engaging in exercise in an ozone (O 3)-polluted environment can lead to lung damage,
respiratory inflammation, and deterioration in performance, however, the effects on the heart …
respiratory inflammation, and deterioration in performance, however, the effects on the heart …
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
SN Kobren, MA Moldovan, R Reimers, D Traviglia… - …, 2024 - pmc.ncbi.nlm.nih.gov
Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to
perform “N-of-1” analyses on individual patients with ultra-rare diseases. The increasing …
perform “N-of-1” analyses on individual patients with ultra-rare diseases. The increasing …
Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities …
C Zhou, W Wang, H Wang, J Mai, X Wang… - Prenatal …, 2025 - Wiley Online Library
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures,
and brain abnormalities (NDDRSB) is an extremely rare but severe disorder. Here, we …
and brain abnormalities (NDDRSB) is an extremely rare but severe disorder. Here, we …