ACVRL1 antibody
- Known as:
- ACVRL1 (anti-)
- Catalog number:
- orb100117
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- ACVRL1 antibody
Related genes to: ACVRL1 antibody
- Gene:
- ACVRL1 NIH gene
- Name:
- activin A receptor like type 1
- Previous symbol:
- ACVRLK1, ORW2
- Synonyms:
- HHT2, ALK1, HHT
- Chromosome:
- 12q13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-12
- Date modifiied:
- 2019-04-23
Related products to: ACVRL1 antibody
Related articles to: ACVRL1 antibody
- Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder most commonly caused by pathogenic variants in ACVRL1 or ENG. Most pathogenic variants are coding missense, nonsense, splice-site variants, or small insertions/deletions, as well as exon-level deletions or duplications, and are typically detectable by next-generation sequencing (NGS). However, balanced structural rearrangements and deep intronic variants are not reliably detected by standard exome-based approaches and may contribute to genetically unresolved cases. - Source: PubMed
Publication date: 2026/06/06
Esteve-Garcia AnnaMadrigal IreneAguilera CinthiaSau CristinaAquino VirginiaBarberà Joan AlbertSánchez AuroraMorte BeatrizRodríguez-Revenga LaiaAlvarez-Mora María IsabelRibas JesusTorres-Iglesias RaquelMedina Alejandro PortilloRiera-Mestre AntoniPadró-Miquel Ariadna - Global cancer data show a continuous rise in cervical cancer incidence and mortality, burdening public health. To effectively mitigate this challenge, elucidating molecular pathogenesis and novel drug targets are critical for advancing clinical care. In this study, abnormally expressed miRNAs in cervical cancer were identified through TCGA data analysis. Expression levels were quantified using qRT-PCR and Western Blot, at both mRNA and protein levels, respectively. miR-141-5p and ACVRL1's interaction was validated with dual-luciferase assays. Cell behavior was evaluated using assays including CCK-8 assay. In vivo tumor growth was assessed in nude mice xenograft model. Database screening and subsequent validation using cancer cell lines and clinical samples revealed aberrantly elevated expression of miR-141-5p in cervical cancer. High expression of miR-141-5p in SiHa/HeLa cells significantly promoted cellular proliferation, migration, and invasion while concurrently inhibiting apoptosis, whereas its downregulation elicited opposing effects. ACVRL1 was identified as a direct target of miR-141-5p. Overexpressing miR-141-5p markedly upregulated ACVRL1 mRNA and protein levels, while its knockdown significantly reduced ACVRL1 expression at both mRNA and protein levels. Further functional analysis showed that ACVRL1 knockdown significantly impaired cellular proliferation, migration, and invasion while enhancing apoptosis in cervical cancer cells. Rescue experiments confirmed that miR-141-5p exerted regulatory effects on these cellular behaviors, at least partially through ACVRL1. miR-141-5p downregulation significantly suppressed tumor growth in vivo, as evidenced by reduced tumor volume and weight in nude mice. In brief, this study shows that miR-141-5p upregulation in cervical cancer promotes tumor progression via ACVRL1 regulation, indicating its potential in precision oncology. - Source: PubMed
Publication date: 2026/05/28
Liu JianbingJiao YongzhiWang JinjuanCui XiaohuaGao YingZhang YanXu JingHao JianqingHou YongliWang WeiYang GuangLi Li - Hereditary haemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant vascular disorder, most frequently associated with pathogenic variants in ENG or ACVRL1, resulting in multisystem arteriovenous malformations (AVMs). We report a middle-aged woman with primary antiphospholipid syndrome on chronic enoxaparin therapy who presented with exertional dyspnoea. CT demonstrated bilateral pulmonary AVMs (PAVMs), and clinical evaluation revealed mucocutaneous telangiectasias. Genetic testing identified an ENG mutation, confirming HHT type 1 according to the three Curaçao criteria. Selective microcoil embolisation of PAVMs with feeding arteries >3 mm led to marked improvement in functional capacity. HHT1 is predominantly associated with pulmonary and cerebral AVMs, whereas HHT2 and juvenile polyposis-hereditary haemorrhagic telangiectasia syndrome involve hepatic and gastrointestinal manifestations. Diagnostic assessment relies on echocardiographic contrast studies and CT angiography. Embolisation represents the standard of care for significant PAVMs with periodic radiological surveillance recommended. This case underscores the importance of early recognition and multidisciplinary management to mitigate HHT-associated complications. - Source: PubMed
Publication date: 2026/05/27
Lopes LauraFerreira Pedro Gonçalo - Tibial dyschondroplasia (TD) is a chronic cartilage disorder commonly found in fast-growing broiler chickens, characterized by impaired tibial development and subsequent growth retardation, which collectively compromise poultry health and production efficiency. Circular RNAs (circRNAs), a class of non-coding RNAs with covalently closed loop structures, have recently garnered increasing attention in biological research. Growing evidence suggests that circRNAs are involved in the fine-tuned regulation of TD in broiler through competitive endogenous RNA (ceRNA) networks. However, the role of circRNA in TD pathogenesis via protein-binding mechanisms remains unclear. In our previous study, we identified circCOG6 (circ_0002951), a circular RNA derived from the COG6 gene, as significantly upregulated in a Thiram-induced TD model, indicating its potential critical role in TD onset and progression. In vitro functional assays revealed that overexpression of circCOG6 suppresses proliferation and differentiation of TD chondrocytes and promotes apoptosis. Mechanistically, through AGO2-RIP, RNA pull-down, and RIP experiments, we demonstrated that circCOG6 interacts with activin receptor type-1-like (ACVRL1) to inhibit chondrocyte proliferation and differentiation, promote apoptosis, and synergistically enhance BMP/Smad signaling activation, thereby contributing to TD pathogenesis. Furthermore, in vivo studies showed that intra-articular injection of adeno-associated virus carrying shRNA targeting circCOG6 (AAV-sh-circCOG6) alleviates TD lesions in a broiler chicken. In conclusion, this study is the first to elucidate a circRNA-mediated regulatory mechanism in broiler TD via RBP-binding protein interaction, thereby enriching the TD regulatory network and offering a potential therapeutic target for its treatment. - Source: PubMed
Ji XuyangHu ZhiXu HengyongLu YuxiangChen JiapengZhu JiajunGuo LonggeWang XinqiLiu YipingWang Yan - Severe dengue (SD) represents a life-threatening progression of dengue virus infection. Early identification of patients at risk of transitioning from dengue fever (DF) to SD remains a major clinical challenge. Unraveling the transcriptomic changes underlying this progression may aid in developing timely therapeutic interventions. - Source: PubMed
Publication date: 2026/05/08
Anumulapuri SrilekhaJosyula Jhansi Venkata NagamaniPillai Agiesh Kumar BalakrishnaMutheneni Srinivasa Rao