Ask about this productRelated genes to: RAB23 antibody
- Gene:
- RAB23 NIH gene
- Name:
- RAB23, member RAS oncogene family
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 6p12.1-p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-18
- Date modifiied:
- 2018-02-13
Related products to: RAB23 antibody
Related articles to: RAB23 antibody
- Carpenter syndrome, caused by biallelic mutations in MEGF8 or RAB23, manifests with craniosynostosis through incompletely defined mechanisms. While both genes encode negative regulators of Hedgehog (Hh) signaling, we demonstrate that MEGF8 maintains cranial suture patency through a distinct, Hh-independent pathway. Loss of MEGF8 disrupts ubiquitination and lysosomal degradation of BMPR1A, leading to BMPR1A accumulation and hyperactivation of canonical BMP-SMAD1/5/9 signaling, which accelerates osteogenic differentiation of cranial mesenchyme. Using Megf8 mutant mice, we show tissue-specific specialization: limb defects are Hh-dependent and rescued by SMO inhibition, whereas craniosynostosis is BMP-driven and refractory to Hh blockade, with BMP type I receptor inhibition selectively rescuing the cranial phenotype. Comparative analyses reveal that MEGF8 and RAB23 promote osteogenic differentiation through distinct mechanisms-MEGF8 via ubiquitin-mediated BMPR1A turnover and BMP-SMAD activation, RAB23 through FGF-ERK signaling-despite both affecting GLI1-mediated transcription. Reintroduction of human MEGF8 in MEGF8-knockdown cells restores BMPR1A protein levels, validating the specificity of MEGF8-mediated BMPR1A regulation. These findings suggest that MEGF8 modulates BMP signaling post-transcriptionally, establishes tissue-specific regulatory mechanisms in syndromic disorders, and demonstrates how divergent pathways converge on shared phenotypes, with implications for pathway-specific therapeutic strategies. - Source: PubMed
Publication date: 2026/07/03
Hwangbo KoeunPark JihyunRho HyunjinWoo Dong-CheolSung Young HoonKim Soo-HyunSong JaewhanKo Hyuk Wan - BackgroundThe main aim of this study is to identify prognostic biomarkers through integrating bioinformatics analysis in gastric cancer, which is a significant global health challenge.MethodsGene expression datasets related to blood, tissue, and saliva in gastric cancer were downloaded from the Gene Expression Omnibus (GEO) database and analyzed. The bioinformatics approaches included the identification of differentially expressed genes (DEGs) and enrichment analysis, as well as Kaplan-Meier Plotter survival analysis. The DEGs were also validated through The Cancer Genome Atlas (TCGA) database. Additionally, DEGs-associated lncRNAs and microRNAs were identified. Subsequently, Tumor and Immune System Interaction Database (TISIDB) was utilized to examine the correlation of the genes of interest with immune and molecular subtypes.ResultsTwenty-six common DEGs were identified across blood, tissue, and saliva samples. Among them, 17 genes showed significant expression based on TCGA data. RAB23, LOX, ELL2, ELK3, CENPF, CD44, ANP32E, AKR1C2, and SMAD5 displayed significant association with patient survival. Particularly, ELL2 exhibit decreased expression in all specimens. The results indicated that ELL2 has a significant correlation with the immune system. The ELL2 gene regulates immune cell functions in gastric cancer, potentially influencing cancer immune responses, and tumor progression.ConclusionELL2 downregulated expression and its correlation with survival across blood, tissue, and saliva samples using bioinformatics analysis underscores the necessity of more investigation to fully comprehend its function in cancer immunology. - Source: PubMed
Publication date: 2026/06/23
Zare KiarashSalehi ZahraMorovat Ali RezaAghajani AliMohammadi Pour PardisGhanbariasad AliNaghizadeh Mohammad Mehdi - Diabetic retinopathy (DR) can significantly impair vision and lead to blindness. Vitamin D (VD) has been shown to enhance the production of anti-inflammatory factors, alleviating the effects of hyperglycemia. However, downstream genes and molecular networks associated with VD signaling in DR remain unidentified. This study aimed to employ a systems biology approach to nominate high-priority candidate genes and cellular contexts as a hypothesis-generating effort to facilitate future functional studies on the role of VD in DR. - Source: PubMed
Chen PengfeiLi RuiqiZhao KerenLiu RuiHao Yuhua - The Clinical Genome Resource Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. The current work summarizes the findings of the Cranio GCEP during its first round of curation and aims to provide expert guidance on the clinical validity of gene-disease relationships in the context of craniofacial malformations. - Source: PubMed
Publication date: 2026/04/29
Edoh Enyonam Y AMighton ChloeBroeren Eleanor CGitau Vanessa NRatliff JulieDiStefano Marina TGadalla SandraGirod AmandaHughes Madeline YMcCurry HannahPatel Mayher JWilcox Emma HMohammadi MoosaPaschal Cate RSpector ElaineWilkie Andrew O MZackai ElaineZarate Yuri AGraham John MJabs Ethylin WangSanchez-Lara Pedro A - Human periodontal ligament mesenchymal cells (PDLCs) are promising for regenerative therapies but show heterogeneous osteogenic commitment that limits bone regeneration. To attempt to overcome this limitation, we focus on the Hedgehog (Hh) signaling pathway, which is crucial for osteoblastic differentiation as the mechanistic focus of the study and as a strategy to overcome this heterogeneous osteogenic commitment. Resveratrol, a naturally occurring polyphenol, exhibits osteoinductive properties, but its effects on osteogenesis in PDLCs with low osteogenic potential (l-PDLCs) remain unclear. We aimed to investigate whether resveratrol could activate the transcriptional program of Hh signaling in l-PDLCs, as the mechanistic focus of the study and as a strategy to overcome the heterogeneous osteogenic commitment, thereby enhancing mineralization in vitro. Cell viability and osteogenic potential were analyzed under different concentrations and treatment protocols. RNA sequencing, gene expression analysis, transcriptional correlation, and molecular docking were performed in l-PDLCs cultured for 10 days under osteogenic medium (OM) or pretreated for 3 days with resveratrol followed by 10 days of induction (OM/Resv). Pretreatment with 0.1 μM resveratrol exhibited a two-fold increase in mitochondrial metabolism and mineral deposition in vitro. Although multiple osteogenic pathways were modulated, Hh signaling was notably activated, with SHH, DHH, IHH, GLI1 and PTCH1 significantly enriched in OM/Resv compared to OM. Importantly, IHH and SP7 were upregulated and strongly correlated after resveratrol treatment. Resveratrol pretreatment during osteogenic induction upregulated GLI1, PTCH1, and SMO, while downregulating RAB23 (p ≤ 0.01), corroborating RNA-seq results. Molecular docking predicted 23 interactions between resveratrol and RAB23, a negative regulator of Hh signaling, suggesting competition with GDP at the RAB23 active site. Resveratrol enhanced proliferation and osteogenic differentiation in l-PDLCs. Activation of osteogenic markers via the Hh pathway and RAB23 downregulation suggests its role in bone regeneration. These findings provide insights into resveratrol-induced osteogenesis and support its potential as a bioactive modulator of osteogenic pathways in PDLCs for bone regenerative therapies. - Source: PubMed
Publication date: 2026/04/02
Ferreira Rogério Salinasde Assis Rahyza Inácio FreireRacca FrancescaBontempi Ana Carolinade Carvalho Anne Caroline Teles CamposWiench MalgorzataAndia Denise Carleto