RFXAP antibody - middle region (ARP33226_P050)
- Known as:
- RFXAP (anti-) - middle region (ARP33226_P050)
- Catalog number:
- arp33226_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- RFXAP antibody - middle region (ARP33226_P050)
Related genes to: RFXAP antibody - middle region (ARP33226_P050)
- Gene:
- RFXAP NIH gene
- Name:
- regulatory factor X associated protein
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 13q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-11-05
- Date modifiied:
- 2019-04-23
Related products to: RFXAP antibody - middle region (ARP33226_P050)
Related articles to: RFXAP antibody - middle region (ARP33226_P050)
- Multiple myeloma (MM) is a severe plasma-cell malignancy that continues to cause substantial morbidity and mortality despite major therapeutic advances. Although current therapies target distinct molecular processes, many patients eventually relapse, raising the question of whether diverse treatments impose different pressures that nevertheless converge on shared transcriptional adaptation programs. While many studies have profiled transcriptional changes before and after treatment, these responses are often analyzed within individual drugs, leaving recurrent programs across therapies insufficiently explored. Here, we developed PRISM-MM (Perturbation Response Inference by Sparse integrative Modeling for Multiple Myeloma), an interpretable sparse integrative dictionary-learning framework that decomposes drug-control transcriptional shifts into signed response programs while accounting for drug identity, study background and cell-source state. By incorporating paired scRNA-seq as a calibration layer, PRISM-MM preserved cell-state-level interpretability and outperformed representative perturbation-prediction models in recovering reproducible response structure. Applied to a curated multi-study MM perturbation compendium, PRISM-MM identified conserved treatment-associated programs validated in held-out bulk and external paired scRNA-seq datasets. These programs revealed a recurrent remodeling pattern characterized by depletion of plasma-cell-like secretory activity and enrichment of inflammatory, adhesion-associated and stress-tolerant immune-interface states. We further nominated state-maintaining genes and highlighted a RFXAP-centered immune-regulatory axis that may drive the Program 8 inflammatory adaptation state and shape MM drug response. Together, PRISM-MM provides an interpretable framework for discovering conserved drug-response programs and generating mechanistic hypotheses about treatment adaptation in MM. - Source: PubMed
Publication date: 2026/08/08
Wu MingkeLu JinGe Qing - 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 - 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 - Pancreatic ductal adenocarcinoma (PDAC) continues to exhibit resistance to immunotherapy. In this study, we evaluated the efficacy of combining immunotherapy with chemotherapy for the treatment of advanced pancreatic cancer. Additionally, we employed a multimodal analytical approach to elucidate the immune landscape and conduct transcriptomic profiling in PDAC. - Source: PubMed
Publication date: 2025/10/02
Wu MengyaoLi GeLi YechengChen KaiXu MengdanLi DapengXu CaihuaShen MengLi WeiCao Jinming - Molecular characterization and identification of selection signals at the genome-wide level facilitate the enhancement of ongoing conservation and selection studies in farm animals. This study aimed to reveal genomic diversity and selection signatures in Anatolian Merino sheep via 351 539 bi-allelic single-nucleotide polymorphisms (SNPs) obtained from the double-digest restriction-site-associated DNA sequencing (ddRADseq) technique. Genetic variability parameters such as minor-allele frequency (MAF), nucleotide diversity ( ), observed heterozygosity ( ), and expected heterozygosity ( ) were estimated to be 0.340, 0.235, 0.258, and 0.235, respectively, while the inbreeding coefficient was 0.027 based on runs of homozygosity (ROH). A decreasing trend was detected in the effective population size of Anatolian Merino sheep, the current population of which turned out to be descendants of an ancestral population covering 2500 individuals 400 generations ago. Significant selection signals were detected in 464 SNPs within 14 genomic intervals via the ROH approach, whereas 259 SNPs were categorized into 79 genomic intervals by integrated haplotype score (iHS) statistics. A total of 37 and 72 protein-coding genes overlapped with detected genomic intervals in ROH and iHS approaches, respectively. A survey of a sheep QTL database confirmed that selection signals covered 66 QTL-associated SNPs. A large part of the protein-coding genes under selection pressure were mainly associated with milk production (, , , , , , , , , , , , , , , and ) and udder morphology (, , , and ), while numerous genes turned out to have effects on total muscle area (), bone density (), carcass traits (), fecal egg count (), and immunoglobulin A level in blood circulation (, , , , , and ). The results of this study confirm that high-density next-generation sequencing (NGS) data could be utilized to characterize local sheep breeds to shape conservation programs and shed light on the past breeding practices of the populations whose phenotypic records are absent. - Source: PubMed
Publication date: 2025/02/26
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