December 7, 2025Pediatric ResearchOpen Access

Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways

View Full Paper

Ask AI

Bookmark

Authors

Discussion

Genetic analysis reveals a novel ZMIZ1 variant in NEDDFSA, suggesting altered signaling pathways and cellular processes.

ZMIZ1 mRNA and protein expression levels increased significantly due to the novel variant identified.
Subcellular localization of the ZMIZ1 protein was altered, impacting cellular mechanisms in muscle cells.
Assessment using exome sequencing and co-immunoprecipitation with mass spectrometry provided insights into gene function.
Findings may facilitate the development of targeted therapies for neurodevelopmental disorders with cellular implications.

Li et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark