ArticleFunctional & integrative genomics2026
Mitochondria-related gene and protein changes in craniosynostosis: integrated transcriptomics and Fgfr2C361Y/+ cranial suture proteomics.
Article in Functional & integrative genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 list with the MitoCarta 3.0 inventory yielded 24 mitochondrial DEGs (MitoDEGs). Complementary feature selection reduced these 24 MitoDEGs to an eight-gene panel (TMEM11, SLC25A21, GPT2, CYP27A1, MRPS30, ACAA2, GSR, and LIG3); a multigene score reached an apparent AUC of 0.806 in the integrated dataset. Correlation-based co-expression analyses linked the panel to mitochondrial translation, electron transport, amino-acid metabolism, redox control, and cell-matrix signaling. Among craniosynostosis cases, consensus clustering on the eight genes separated two molecular subtypes with distinct GSVA pathway profiles. For experimental support in a genetically defined mouse model, we profiled bilateral coronal suture complexes from Fgfr2C361Y/+ knock-in (KI) pups and WT littermates. Jess capillary immunoassay showed higher CYP27A1 abundance in KI sutures (P = 0.0276), whereas ACAA2, LIG3, MRPS30, and TMEM11 were not significant. Data-independent acquisition (DIA) proteomics identified 523 differentially abundant proteins (516 increased, 7 decreased in KI), followed by stricter-threshold reporting, sensitivity analysis, and threshold-free rank-based enrichment. MitoCarta proteins and mitochondrial pathways remained supported under these more conservative analyses. These results support mitochondria-associated transcriptomic and proteomic changes in craniosynostosis and prioritize a limited set of mitochondrial candidates for future mechanistic work.
Indexed as
Identifiers
42258016What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.