Ask about this productRelated genes to: RFXANK antibody
- Gene:
- RFXANK NIH gene
- Name:
- regulatory factor X associated ankyrin containing protein
- Previous symbol:
- -
- Synonyms:
- BLS, RFX-B, ANKRA1, F14150_1, MGC138628
- Chromosome:
- 19p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1998-11-19
- Date modifiied:
- 2019-04-23
Related products to: RFXANK antibody
Related articles to: RFXANK antibody
- Major histocompatibility complex (MHC) class II deficiency is a rare, life-threatening primary immunodeficiency that presents in early infancy with a SCID phenotype. However, emerging data indicate substantial clinical and immunological heterogeneity, including atypical presentations and neurological involvement. - Source: PubMed
Publication date: 2026/04/22
Haskologlu SuleAytekin CanerIslamoglu CandanKostel Bal SevgiBaskın KubraErman BaranKendirli TanılCeylaner SerdarDogu FigenIkinciogullari Aydan - : Hepatocellular carcinoma (HCC) represents an extremely lethal malignancy on a global scale. The clinical significance and molecular mechanisms of the immune-related gene in HCC remain unclear. This study seeks to elucidate the clinical implications and diagnostic utility of in HCC, while further exploring its underlying molecular mechanisms. Expression differences of in pan-cancer and HCC were analyzed using the TCGA and GEO (GSE45267) databases. Its diagnostic efficacy was evaluated by Cox regression, Kaplan-Meier survival curves, and ROC curves. Potential functional pathways were explored through GO, KEGG, and GSEA enrichment analyses. The correlation between and immune cell infiltration, as well as immune checkpoint molecules, was analyzed using the ssGSEA algorithm and CIBERSORTx. In vitro, siRNA interference was employed to knock down expression in Huh-7 and MHCC97H cells. The effects on cell proliferation and RAF1 protein levels were assessed using a CCK-8 assay and Western blot, respectively. : was significantly overexpressed in HCC tissues and was closely associated with aggressive clinical features, including pathological T stage, histological grade, and AFP levels. Multivariate Cox regression analysis confirmed that was an independent risk factor for survival in HCC patients (HR = 1.871). The area under the ROC curve (AUC) was 0.939, demonstrating excellent diagnostic predictive value. Enrichment analysis revealed a significant association with the cell cycle, PPAR signaling pathway, and lipid metabolism pathways. Immune infiltration analysis further revealed that expression was significantly positively correlated with Th2 and TFH cells, as well as key immune checkpoint molecules such as PD-1, CTLA4, and LAG3, suggesting distinct features of immune polarization and an inhibitory microenvironment. In vitro cellular experiments demonstrated that knocking down significantly inhibited the proliferative capacity of HCC cells and reduced RAF1 protein expression. : may promote HCC progression by driving a multidimensional proliferation-metabolism-immunity mechanism. holds promise as a novel biomarker for diagnostic assessment and a potential therapeutic target for HCC patients. - Source: PubMed
Publication date: 2026/03/31
Qu TaimeiTian Lv - Resistance to targeted therapy remains a major clinical challenge in the treatment of BRAF-mutant melanoma. To elucidate the molecular mechanisms underlying acquired resistance to dual BRAF and MEK inhibition, we performed transcriptomic profiling of two metastatic melanoma cell lines, Hs294T and WM9, that had become resistant to the combination of vemurafenib (a BRAF inhibitor) and cobimetinib (an MEK inhibitor). Resistant cell lines were derived through stepwise drug exposure until stable resistance was achieved in the presence of 0.4 µM vemurafenib and 0.4 µM cobimetinib. Total RNA was extracted and subjected to high-throughput sequencing using the KAPA Stranded mRNA-seq Kit and Illumina NovaSeq 6000 platform, yielding ~ 20 million paired-end reads per sample. Sequencing data were processed with standard RNA-seq pipelines, including read alignment (STAR), quantification (featureCounts), normalization, and differential expression analysis (DESeq2). Gene set enrichment analysis (GSEA) was performed using MSigDB collections. Transcription factors and kinases activity were inferred using the decoupleR package. All statistical analyses incorporated multiple-testing correction using the Benjamini-Hochberg method. Both resistant cell lines exhibited strong upregulation of extracellular matrix components, epithelial-mesenchymal transition (EMT) markers, and chemokine signaling genes, along with repression of melanocytic lineage markers. Inference of transcription factors and kinases activity uncovered line-specific regulatory rewiring, including activation of MYOCD, SMAD3, and TP53, and suppression of immune regulators such as RFX5 and RFXANK. WM9 cells exhibited broader transcriptional reprogramming and a more pronounced engagement of inflammatory and immune-related pathways. At the same time, Hs294T resistance was marked by a more restricted program focused on stromal remodeling and impaired antigen presentation. RNA-seq-based profiling of dual-resistant melanoma cell lines revealed distinct, context-specific transcriptional programs associated with acquired resistance. These findings complement prior characterization of the same models and highlight divergent adaptive strategies, providing a transcriptomic resource to inform follow-up in vitro testing of candidate combinations aimed at overcoming BRAF/MEK inhibitor resistance. - Source: PubMed
Publication date: 2026/03/23
Kujawa TomaszSimiczyjew AleksandraKot MagdalenaGambin TomaszNowak DorotaKobiela Tomasz - - Source: PubMed
Publication date: 2026/01/19
Nuñez-Nuñez Maria EnriquetaValenzuela-Vazquez LuceroBustamante-Ogando Juan CarlosBayardo-Gutierrez BeatrizLona-Reyes Juan CarlosEstrada-Arce Emma ValeriaMartinez-Duncker IvanLugo-Reyes Saul OEspinosa-Padilla Sara ElvaCruz-Muñoz Mario Ernesto - Major histocompatibility complex class II (MHC II) deficiency (bare lymphocyte syndrome type II) is an autosomal-recessive combined immunodeficiency caused by pathogenic variants in the transcriptional regulators CIITA, RFXANK, RFX5, or RFXAP. While RFXANK founder mutations predominate in North Africa, CIITA-related disease is extremely rare. We report two siblings from a consanguineous Moroccan family with the classic early-infancy phenotype. The elder sister developed recurrent febrile rashes, oral candidiasis, and locoregional BCGitis with acid-fast bacilli in granulomas, followed by progressive respiratory failure and fatal cytomegalovirus pneumonitis despite antiviral therapy; immunology showed profound CD4 lymphopenia with CD4/CD8 inversion, near-absent HLA-DR on B cells, undetectable IgG/IgA, and elevated IgM. The proband, identified during family follow-up, had recurrent mucocutaneous infections, marked CD4 lymphopenia with CD4/CD8 inversion, and near-absent HLA-DR on B cells; he was started on monthly intravenous immunoglobulin and trimethoprim-sulfamethoxazole prophylaxis. Targeted next-generation sequencing revealed a novel homozygous nonsense CIITA variant (c.1615C>T; p.R539*), predicted to truncate the GTP-binding domain, abolish downstream leucine-rich repeats, and undergo nonsense-mediated decay, and classified as pathogenic according to ACMG criteria. Molecular confirmation enabled genetic counseling, cascade testing, withholding BCG, and urgent evaluation for allogeneic hematopoietic stem-cell transplantation. This case, likely the first CIITA-related MHC II deficiency reported from Morocco, expands the regional genotypic spectrum and underscores the value of early HLA-DR flow-cytometric assessment and prompt molecular testing in infants from consanguineous families to guide prophylaxis, vaccination decisions, and timely referral for curative therapy. - Source: PubMed
Publication date: 2025/11/25
Kattra Aziza BachirAilal FatimaBenhsaien IbtihalFahi MohammedDrissi Bourhanbour AsmaaElamine AhamadaAadam ZahraErrami AbderrahmaneBousfiha Ahmed AzizEl Bakkouri Jalila