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Mitochondria-related gene and protein changes in craniosynostosis: integrated transcriptomics and Fgfr2C361Y/+ cranial suture proteomics

ABSTRACT: This project maps mitochondria-associated molecular changes in craniosynostosis by integrating public human transcriptomes and by generating proteomic data from a genetically defined mouse model. Differential expression signals were intersected with the MitoCarta 3.0 inventory to prioritize mitochondrial candidates, and cranial suture tissue from Fgfr2C361Y/+ knock-in mice and wild-type littermates was profiled to provide protein-level support.

ORGANISM(S): Mus Musculus

SUBMITTER: XiaoLei Jin

PROVIDER: PXD072912 | iProX | Fri Jan 09 00:00:00 GMT 2026

REPOSITORIES: iProX

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Mitochondria-related gene and protein changes in craniosynostosis: integrated transcriptomics and Fgfr2C361Y/+ cranial suture proteomics.

Zeng Han H Wang Yu Y Dong Miao M Yue Yingying Y Jin Xiaolei X

Functional & integrative genomics 20260608 1

Craniosynostosis is defined by premature cranial suture fusion and is biologically heterogeneous. To map mitochondrial-associated signals in craniosynostosis and rank follow-up candidates, we integrated two public microarray datasets (GSE27976, GSE50796), corrected batch effects, and analyzed 14,186 shared genes using limma. This identified 798 nominal DEGs (388 upregulated and 410 downregulated), of which 19 remained significant after Benjamini-Hochberg correction. Intersecting the nominal DEG ...[more]

PMID: 42258016

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