ACVR1
- Known as:
- ACVR1
- Catalog number:
- Y213832
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACVR1
Related genes to: ACVR1
- Gene:
- ACVR1 NIH gene
- Name:
- activin A receptor type 1
- Previous symbol:
- ACVRLK2
- Synonyms:
- SKR1, ALK2, ACVR1A
- Chromosome:
- 2q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-01-10
- Date modifiied:
- 2016-10-05
Related products to: ACVR1
Related articles to: ACVR1
- Four Janus kinase inhibitors (JAKinibs), ruxolitinib, fedratinib, pacritinib, and momelotinib, are indicated for myelofibrosis. All inhibit JAK2, but effects on additional kinases vary markedly, shaping their specific clinical pharmacology. Published comparative inhibitory profiles and cellular pharmacology data are incomplete and were determined here. Inhibitory potency and relative selectivity of JAKinibs were determined by full kinome profiling. JAKinib effects on signaling and cell growth were measured using JAK2-dependent and JAK2-independent cell lines. Ruxolitinib was the most potent JAK2 inhibitor (half-maximal inhibitory concentration [IC] at physiological [1mM] ATP, 2.9nM), followed by fedratinib (17nM), momelotinib (29nM), and pacritinib (39nM), and the most selective. The other JAKinibs inhibited multiple additional kinases beyond the few typically reported for each drug in the literature. Interestingly, pacritinib and momelotinib showed only modest activin A receptor type 1 (ACVR1) inhibition at clinical doses and physiological ATP concentrations, suggesting the role of ACVR1 inhibition in mediating their anemia-related benefits may be overestimated. The observed inhibitory levels are unlikely to translate to a clinically meaningful reduction in hepcidin levels. In JAK2-dependent cellular assays, ruxolitinib showed most potent inhibition of STAT5 phosphorylation (IC 14nM), followed by momelotinib (201nM), pacritinib (421nM), and fedratinib (669nM), and was the only JAKinib that had minimal impact on growth in JAK2-independent cell lines. In conclusion, ruxolitinib was the most potent, and selective JAKinib with no relevant effects in JAK2-independent cells. In contrast, fedratinib, pacritinib, and momelotinib inhibited many other kinases and inhibited cell growth by JAK2-unrelated mechanisms at clinically relevant concentrations. - Source: PubMed
Publication date: 2026/02/16
Celik HamzaWass BrittneyZolotarjova NinaTrivedi GaurangMargulis AlexDrake KatherineCovington MaryanneLaranjeira Angelo Brunelli AlbertoniKatiyar KamnaSmith AmandaZhang GuofengMacarrón Ricardo - Inflammatory diseases cause significant morbidity and mortality, but their pathobiology is often difficult to dissect due to complex genetic-environmental interactions. Genetic forms of heterotopic ossification, such as fibrodysplasia ossificans progressiva (FOP), reduce genetic variability, allowing careful dissection of non-genetic drivers of inflammation. While >95% of FOP patients harbor the mutation, patients exhibit significant variability in disease progression, suggesting a role of environmental drivers. Here, we identify the gut microbiome as a regulator of inflammation-driven HO in FOP. Metagenomic profiling of cohabitating FOP/unaffected sibling pairs revealed a pathogenic gut microbiome profile in FOP patients (Bray-Curtis, p < 0.05). In (FOP) mice, gut microbiome ablation by antibiotics reduced spontaneous HO formation (47.4% reduction, p < 0.05) and reduced plasma IL-1 pathway activity. IL-1β blockade in FOP mice suppressed trauma-induced HO formation. These findings identify a gut microbiome-IL-1-HO axis with modifiable targets for developing treatments for HO and related inflammatory conditions. - Source: PubMed
Publication date: 2026/04/08
Herzog Hannah MFang CamilleLam LiamJin KatherineZamarioli ArianeDinh EthanGupta Chhedi LalSharma AditiMoody TaniaPierce Jessica LHohl Michael STakimoto Sarah WLyalina SvetlanaWentworth Kelly LYu KristieLu Vivian FMamikunian IsadoraHunt Natasha KLynch SusanPollard Katherine SHernandez Christopher JPerrien Daniel SHsiao Edward C - We investigated whether neuronal activin A receptor type 1 (ACVR1) drives glycolytic lactate production to fuel histone H3K18 lactylation (H3K18la), thereby activating NLRP3-dependent neuronal pyroptosis and sustaining pain, while assessing therapeutic reversal. - Source: PubMed
Publication date: 2026/04/15
Zhao XiaoweiZhang XiaoxuLi YaqianFu ChunmengYuan LiCong TingNiu Zejun - Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues, caused by mutations in the ACVR1 gene. Flare-ups are painful inflammatory episodes that may occur spontaneously or following minor trauma. The estimated incidence is rare, and to our knowledge, a genetically unconfirmed case has previously been reported in the United Arab Emirates. We report a 15-year-old Sudanese girl with genetically confirmed FOP, diagnosed at two years of age. She initially presented in infancy with painful shoulder restriction, followed by recurrent trauma- and infection-triggered flare-ups. Progressive heterotopic ossification led to jaw ankylosis, hip involvement with gait impairment, and eventual wheelchair dependence. During her most recent admission, she presented with painful right forearm swelling that was managed as cellulitis; this was later recognized as an FOP flare-up. Corticosteroid therapy was not initiated because she presented six days after symptom onset, whereas current recommendations support administration within 24 hours of flare-up onset. Management has primarily consisted of supportive care, physiotherapy for mobility preservation, and family education focused on trigger avoidance and early presentation to medical care at the onset of known flare-ups. To our knowledge, this case represents the first genetically confirmed reported case of FOP in the region. It underscores the importance of early recognition of flare-ups and timely presentation to optimize management and improve patient education in this rare condition. - Source: PubMed
Publication date: 2026/03/11
Al Karam Tabarak MAlkaram Batool MBasil Rafah ZAlzaghal Safwan AAhmed Abdalla - To investigate the clinicopathological and molecular genetic characteristics of fibrodysplasia ossificans progressiva (FOP). Three cases of FOP were collected in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2024. The clinicopathological characteristics were reviewed. Immunohistochemistry and DNA-based NGS were performed. The cohort included two males and one female, with ages of 1, 11, and 11 years, respectively. All patients presented with multiple soft tissue masses in the trunk and hallux valgus deformity. Due to clinical suspicion of malignancy, biopsies were performed in all three cases, and one patient subsequently underwent excision. Histologically, biopsy specimens revealed spindle cell proliferation within a myxoid and collagenous background, infiltrating skeletal muscle fibers, accompanied by thin-walled blood vessels and minimal inflammatory infiltrates. Multifocal ossification was observed in the excised specimen. Immunohistochemically, the spindle cells were positive for SMA (3/3), and negative for desmin (3/3), S-100 (3/3), CD34 (3/3), and MUC4 (1/1). AB-PAS staining revealed extensive mucin deposition in the stroma (2/2). Next-generation sequencing (NGS) identified the ACVR1 R206H mutation in all three cases. Early-stage FOP exhibits distinct histological features, with congenital hallux deformity serving as a crucial diagnostic clue. Molecular testing for ACVR1 mutations facilitates early disease diagnosis. - Source: PubMed
Meng Z QZhao Z HLiu E JYang M LZhu XLi S LLi W C