journal article·2025-12Open access

Pathogenicity of Mediator Complex Subunit 27 ( MED27 ) in a Neurodevelopmental Disorder with Cerebellar Atrophy (Adv. Sci. 48/2025)

Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu

Advanced Science· Volume 12· Issue 48

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

SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.

References

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