Pathogenicity of Mediator Complex Subunit 27 ( MED27 ) in a Neurodevelopmental Disorder with Cerebellar Atrophy (Adv. Sci. 48/2025)
Source abstract
Abstract
Neurodevelopmental Disorder This cover features a comprehensive study on the pathogenic mechanisms underlying a neurodevelopmental disorder caused by deleterious variants in the MED27 gene. MED27 is a key subunit of the human Mediator complex (MED). Pathogenic genetic variants in MED27 destabilize MED, leading to its impaired DNA occupancy, disrupted chromatin interactions, and transcriptional dysregulation of critical downstream genes essential for early neurogenesis and cerebellar development. More details can be found in the Research Article by Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Shen Gu and co-workers (DOI: 10.1002/advs.202505535).
Source: openalex_inverted_index · Quality: baseline
Research context
OpenAlex topics: Genetic Neurodegenerative Diseases · Fetal and Pediatric Neurological Disorders · Hereditary Neurological Disorders
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References
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