ACVRL1 Antibody

1. Heterozygous SNP, rs372023206, was found in all tested patients with idiopathic pulmonary hypertension (heterozygosity). PMID: 29350394
2. ENG, ACVRL1, and SMAD4 mutations result in different phenotypes in hereditary hemorrhagic telangiectasia PMID: 30251589
3. ENG mutation carriers were more likely than ACVRL1 mutation carriers to have pAVMs (P < 0.001) or multiple lesions (P = 0.03), and to undergo procedural intervention (P = 0.02). The HHT severity score was significantly higher in ENG than in ACVRL1 (P = 0.02). PMID: 29048420
4. These studies identified pathways mediating LDLR-independent uptake of LDL may provide unique opportunities to block the initiation of LDL accumulation in the vessel wall or augment hepatic LDLR-dependent clearance of LDL. PMID: 27869117
5. We have identified a novel role for ALK1 in cardiac remodeling PMID: 28820968
6. The present study showed that deletion-duplication mutations in the BMPR2 or ACVRL1 genes may not be associated with non-regression of Pulmonary arterial hypertension. PMID: 28290170
7. Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return. PMID: 28412737
8. Mutations in ACVRL1 gene encoding for transforming growth factor (TGF)-[beta] superfamily have been identified in Pulmonary Arterial Hypertension. PMID: 28582316
9. Treatment-related telangiectasia was noted in 7% of patients, suggesting in vivo inhibition of the ALK-1 pathway. PMID: 26655846
10. Data indicate that simultaneous targeting of molecules that control distinct phases of angiogenesis, such as ALK1 and VEGFR, is a valid strategy for treatment of metastatic renal cell carcinoma (mRCC). PMID: 27248821
11. Study showed that rs706819, rs2293094, and rs11169953 polymorphisms in the ACVRL1 gene are associated with higher susceptibility to brain arteriovenous malformations. PMID: 28927913
12. c.1027C > T(p.Gln343) mutation within the ACVRL1 gene in family with hereditary hemorrhagic telangiectasia PMID: 27381467
13. Bone morphogenetic protein (BMP)9 and BMP10 are high affinity ligands for activin receptor-like kinase 1 (ALK1). PMID: 27528761
14. Activin receptor-like kinase (ALK)1 is a transforming growth factor beta (TGF-beta) type I receptor predominantly expressed in actively proliferating endothelial cells (ECs). PMID: 27528762
15. Two novel missense mutations and two recurrent mutations in the ACVRL1 gene are associated with pulmonary arterial hypertension in in Chinese families. PMID: 27316748
16. ALK1 expression and microvessel density are increased in oral lichen planus , particularly in atrophic/erosive OLP type. PMID: 26662187
17. The genetic-interactions among BMPR-2, ALK-1, and 5-HTT polymorphisms, elevated BMP-2 and 5-HT levels and differential gene expression substantiated the strong genetic contribution in high altitude pulmonary edema pathophysiology. PMID: 27196063
18. Study of four patients with pulmonary arterial hypertension associated with human immunodeficiency virus infection found predisposing mutations in the BMPR2, ACVRL1 and ENG genes. PMID: 26897508
19. The preponderance of ACVRL1 mutations was due to founder mutations, specifically, c.830C>A (p.Thr277Lys), which was found in 24 families from the same geographical area of Norway. PMID: 25970827
20. Report interaction between ALK1 signaling and connexin40 in the development of arteriovenous malformations. PMID: 26821948
21. Short hairpin-mediated downregulation of either ALK5 or ALK1 resulted in a strong inhibition of TGFbeta-induced chondrogenesis. PMID: 26720610
22. This work was designed to examine the pathogenicity of 23 nucleotide variations in ACVRL1 gene detected in more than 400 Hereditary Hemorrhagic Telangiectasia syndrome patients. PMID: 26176610
23. The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. PMID: 25847705
24. bone morphogenic proteins within the serum of cell culture medium are potent inducers of endothelial Hey1 and Hey2 gene expression within the first few hours after medium change PMID: 25799559
25. endoglin and ALK1 have been identified as potential therapeutic targets for antibody treatment in various cancers. PMID: 25279424
26. Mutations in ACVRL1 gene is not associated with pulmonary arterial hypertension. PMID: 24936649
27. In chronic subdural hematomas, the expression of ALK-1 was slightly increased in the dura and markedly up-regulated in the outer membrane. PMID: 24305026
28. P7170 inhibited the phosphorylation of AKT1. PMID: 25466244
29. Endoglin and ACVRL1 contribute to several novel networks, including TGF-beta dependent and independent ones, critical for vascular function and potentially defective in hereditary hemorrhagic telangiectasia. PMID: 24319055
30. Results do not replicate the association between polymorphism in ACVRL1 protein and BAVM in this Dutch population. PMID: 24323303
31. Results show that mutations of ACVRL-1 protein is a genetic predisposing factor for HHT associated PH in Chinese patients PMID: 23919827
32. Consistent with the aberrant upregulation of ACVRL1 and downstream Smad signaling, abrogation of EDD led to deregulated vessel development and endothelial cell motility. PMID: 24189493
33. shows role of ALK-1 in many process related to cardiovascular homeostasis, and the involvement of this protein in the development of cardiovascular diseases, suggesting the possibility of using the ALK-1/smad-1 pathway as a powerful therapeutic target PMID: 23707512
34. A novel intron mutation in ACVRL1 gene is associated with familial hereditary hemorrhagic telangiectasia. PMID: 23460919
35. The balance in signalling through either ALK-1 or ALK-5 regulates leptin expression in mesenchymal stem cells. PMID: 22087763
36. ACVRL1 gene expression is significantly corellated with advanced tumor stages and it is a useful marker for prognosis. PMID: 23447486
37. Defective trafficking and retention in the endoplasmic reticulum of mutant ALK1 protein is a possible mechanism of hereditary haemorrhagic telangiectasia type 2 in some patients. PMID: 23124896
38. ALK1 is upregulated in endothelial cells during vascular injury by a synergistic cooperative mechanism between KLF6 and specificity protein 1. PMID: 23048070
39. Alk1 interacts with cav-1 in human dermal fibroblasts and Transforming Growth Factor beta enhances this association. PMID: 22277251
40. Inheritance of ACVRL1 single nucleotide polymorphisms marginally contributed to the risk of cutaneous telangiectasiae. PMID: 22677372
41. The abnormal expression of ALK1 and TGFbR2 were found to be independent contributors to nasopharyngeal carcinogenesis. PMID: 22391627
42. Patients with childhood idiopathic pulmonary arterial hypertension or heritable pulmonary arterial hypertension with ALK1 mutation carriers tended to have worse outcomes than mutation noncarriers. PMID: 22632830
43. The structure reveals that the high specificity of ALK1 for BMP9/10 is determined by a novel orientation of ALK1 with respect to BMP9, which leads to a unique set of receptor-ligand interactions PMID: 22718755
44. Alk1 extracellular domain binds with high affinity to BMP-9. PMID: 22799562
45. data suggest that both the VEGF/VEGF receptor and the BMP9/ALK1 pathways are essential for stimulating angiogenesis, and targeting both pathways simultaneously may be an attractive strategy to overcome resistance to antiangiogenesis therapy PMID: 22493445
46. PTPN14 has a role in angiogenesis and/or arteriovenous fate, acting via EphrinB2 and ACVRL1/activin receptor-like kinase 1 PMID: 22233626
47. Two angiogenesis-associated transcripts (Egfl7 and Acvrl1) showed lower expression in early-onset PE versus late-onset pre-eclampsia and versus gestational age-matched controls. PMID: 22013081
48. insight into the potential structure of ALK1(EC) and into the structural effects of type 2 Hereditary Haemorrhagic Telangiectasia associated mutations PMID: 22028876
49. A novel endoglin mutation (c.1-127C > T); and a novel ACVRL1 mutation (c.252_253insC; p.Val85fsX168). It was shown for the first time that a 5'-UTR mutation can prevent translation of endoglin among hereditary hemorrhagic telangiectasia patients. PMID: 21967607
50. Studies indicate that mutations in at least five genes are thought to result in hereditary hemorrhagic telangiectasia, but mutations in ENG and ACVRL1/ALK1 cause approximately 85% of cases. PMID: 21546842

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HGNC: 175

OMIM: 600376

KEGG: hsa:94

STRING: 9606.ENSP00000373574

UniGene: Hs.591026