Ask about this productRelated genes to: ASPSCR1 antibody
- Gene:
- ASPSCR1 NIH gene
- Name:
- ASPSCR1 tether for SLC2A4, UBX domain containing
- Previous symbol:
- -
- Synonyms:
- ASPS, ASPL, UBXD9, UBXN9, TUG
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-04-05
- Date modifiied:
- 2019-01-25
Related products to: ASPSCR1 antibody
Related articles to: ASPSCR1 antibody
- ASPSCR1::TFE3 renal cell carcinoma (RCC) is a distinct subtype of renal cell carcinoma characterized by a high rate of lymph node metastasis and poor prognosis. Its unclear pathogenesis and immune microenvironment have hindered clinical treatment. This study analyzed formalin-fixed, paraffin-embedded samples of ASPSCR1::TFE3 RCC and clear cell renal cell carcinoma (ccRCC) using single-cell sequencing and high-resolution spatial transcriptomics. The results showed significant differences in tumor and immune microenvironment between ASPSCR1::TFE3 RCC and ccRCC: ccRCC was enriched in pathways such as interferon response and hypoxia, whereas ASPSCR1::TFE3 RCC was involved in processes including oxidative phosphorylation and epithelial-mesenchymal transition. Tumor cells of ASPSCR1::TFE3 RCC could be divided into C3/C4 subtypes; among them, the C3 subtype, which is mainly involved in cell metastasis, showed significantly higher expression of pro-invasive genes, such as MDK, MMP7, and VCAN. In terms of the immune microenvironment, ASPSCR1::TFE3 RCC exhibited an immunosuppressive phenotype, manifested by an increase in macrophages and exhausted T/natural killer cells. Moreover, the interaction between tumor cells and macrophages mediated by MDK-LRP1 led to its immune escape. This study confirms that ASPSCR1::TFE3 RCC is a malignant tumor with immunosuppressive features and high metastatic potential, characterized by the enrichment of the C3 subgroup and elevated MDK expression. It provides new insights for the clinical targeted therapy of ASPSCR1::TFE3 RCC and is expected to expand the population of beneficiaries of immunotherapy. - Source: PubMed
Publication date: 2026/04/18
Wang YingjingWu XiaCheng XiaoFang RongZhang PingWang HeliYu SenxiaoZhang HuizhiZhao Ming - We previously reported initial results of the pivotal phase II trial of atezolizumab for patients with alveolar soft part sarcoma (ASPS; ClinicalTrials.gov identifier: NCT03141684). Here, we report on three additional years of observation. Fifty-three patients with ASPS received atezolizumab. Median duration of response increased to 37.0 months. Objective response rate (ORR) and median progression-free survival (mPFS) remained essentially as previously reported (35.8% [95% CI, 23.1 to 50.2] and 20.8 months [IQR, 7.6-not reached], respectively). ASPSCR1::TFE3 fusion type was determined for 47/53 patients; ORR and mPFS were higher among the 41 patients expressing type 1 (43.9% [95% CI, 28.5 to 60.2] and 28.3 months [IQR, 9.2-not reached], respectively) than the six patients expressing type 2 (0% [95% CI, 0 to 45.9] and 7.5 months [IQR, 3.9-not reached], respectively, PFS HR, 3.2 [95% CI, 1.01 to 10.2]). Eleven patients chose a per-protocol drug holiday (range, 3.5-26.4 months) after ≥2 years of treatment; two experienced disease progression during the holiday. Nine eligible patients elected to receive bevacizumab plus atezolizumab after progressing on monotherapy; ORR was 0% and mPFS was 18.5 months (IQR, 7.9-21.1) in this small cohort. Long-term results support using atezolizumab to treat ASPS, even for several years; a drug holiday with careful monitoring may be an option for some patients. - Source: PubMed
Publication date: 2026/04/18
Chen Alice PRosenberger Christina LMoore NancyFoster Jared CNaqash Abdul RafehSharon EladO'Sullivan Coyne GeraldineSchwartz Gary KRiedel Richard FGlod JohnHu James SConley Anthony PRead William LBurgess Melissa ADavis Elizabeth JMerriam PriscillaDeshpande Hari ALadle Brian HOkuno Scott HBeck Jill CChen James LFerry-Galow Katherine VFino Kristin KMiller Brandon LWilsker Deborah FBegum AsmaParchment Ralph EDoroshow James H - Renal cell carcinomas (RCCs) driven by rearrangement or alteration (MiT-RCC) account for up to 40% of pediatric RCCs but are rare in adults. MiT-RCC includes fusion-driven tumors with or rearrangements (translocation RCC, tRCC) and -amplified RCC. Morphologic heterogeneity and historical exclusion from trials have limited evidence-based management. We reviewed the literature through January 2026 to summarize molecular biology, pathology, clinical behavior, and systemic therapy. MiT-RCC comprises biologically distinct entities: -rearranged tumors are often indolent in younger patients, whereas -amplified RCC, frequently co-amplifying , behaves aggressively in older adults. In -rearranged RCC, fusion partner influences prognosis. Paradoxically, :: fusions have the poorest natural history, yet fusion-annotated cohorts suggest these tumors may derive particular benefit from immune checkpoint inhibitor (ICI) plus VEGF receptor tyrosine kinase inhibitor (VEGFR-TKI) combinations. Diagnostic advances including GPNMB immunohistochemistry, RNA in situ hybridization, and sequencing-based fusion panels improve detection of cryptic alterations. First-line ICI + VEGFR-TKI combinations are increasingly favored for metastatic tRCC in eligible patients, while optimal management of -amplified RCC remains uncertain. - Source: PubMed
Publication date: 2026/03/16
Portu MikelBalsa MarioCotaina MariaAnguera GeorgiaGarcía Del Muro XavierAlgaba FerranMaroto Pablo - Alzheimer's disease (AD) is the most common form of dementia. Studies have suggested prevalence is greater in individuals self-identifying as Hispanic. Population-specific results enable personalized and equitable interventions. Ethnicity as a stratifier co-occurs with genomic inflation due to heterogeneity. - Source: PubMed
Willett Julian Daniel SundayWaqas MohamadNaumenko SerhiyMullin KristinaHecker JulianBertram LarsLange ChristophVlachos IoannisHide WinstonTanzi Rudolph EProkopenko Dmitry - Several lines of evidence suggest that normal-range facial features and nonsyndromic orofacial clefts (OFCs) exhibit a shared genetic basis. Approaches designed to leverage this relationship hold the possibility of revealing new OFC risk loci by boosting discovery power. To test this idea, we applied a pleiotropy-informed GWAS method (cFDR-GWAS) with summary statistics from large, independent European GWASs of normal facial shape (n=4,680; n=3,566) and nonsyndromic cleft lip with or without cleft palate (nsCL/P, n=3,969). The cFDR approach identified 21 independent genomic loci significantly associated with nsCL/P, providing further evidence of the interconnected genetic architecture between these traits. The five original nsCL/P GWAS signals were detected and joined by nine additional loci previously implicated in other OFC association studies. The remaining seven loci represent new nsCL/P genomic regions, and three of these replicated (P < 0.05) in an independent nsCL/P cohort: , , and . A relaxed 10% cFDR-GWAS threshold identified 15 more independent loci with comparable effect sizes to those detected at the strict 5% threshold, two of which replicated: and . Gene expression patterns in major cell types and spatial transcriptomics data highlighted our gene candidates' roles in craniofacial development. In conclusion, the application of an empirical Bayesian strategy to draw on association signals from genetically related traits can boost the power to identify and prioritize OFC risk loci missed by agnostic gene mapping approaches. These results hold promise that the cFDR-GWAS approach may be able to enhance our understanding of the genetic architecture of other structural birth defects. - Source: PubMed
Publication date: 2026/02/03
Herrick NoahGoovaerts SeppeManchel AlexandraLee Myoung KeunZhang XinyiDavies AmyCarlson Jenna CLeslie-Clarkson Elizabeth JLewis Sarah JMarazita Mary LCotney JustinClaes PeterShaffer John RWeinberg Seth M