ACVRL1 protein antagonist / Merck (MSD) - LARVOL DELTA

Alk1 controls arterial endothelial cell migration in lumenized vessels. (PubMed, Development) - "Heterozygous loss of the arterial-specific TGFβ type I receptor, activin receptor-like kinase 1 (ALK1; ACVRL1), causes hereditary hemorrhagic telangiectasia (HHT)...Altered migration results in decreased endothelial cell number in arterial segments proximal to the heart and increased endothelial cell number in arterial segments distal to the heart. We speculate that the consequent increase in distal arterial caliber and hemodynamic load precipitates the flow-dependent development of downstream AVMs."

Journal • Biosimilar • Hematological Malignancies • Oncology

EIF2AK4 Mutations in Patients Diagnosed with Pulmonary Arterial Hypertension. (PubMed) - Chest - "Pathogenic bi-allelic EIF2AK4 mutations are identified rarely in patients diagnosed with HPAH. Identification of pathogenic bi-allelic EIF2AK4 mutations can aid clinicians in differentiating HPAH from heritable PVOD or PCH."

Journal • Biosimilar • Cardiovascular

Association of ACVRL1 genetic polymorphisms with arteriovenous malformations: A case-control study and meta-analysis. (PubMed, World Neurosurg) - "The present study indicates an association between three susceptibility SNPs, rs706819, rs2293094, and rs11169953, in the ACVRL1 gene and BAVM. Follow-up functional studies on the ACVRL1 gene are required to better understand its roles in BAVM development."

Journal • Biosimilar

Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population. (PubMed) - Oncotarget - "Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c.C717G, p.D239E in sarcoglycan delta (SGCD). Our results offered the landscape of mutations for TAPVR in Chinese population firstly and are valuable in the mutation-based pre- and post-natal screening and genetic diagnosis for TAPVR."

Journal • Biosimilar • Venous Thromboembolism

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. (PubMed, Int J Cardiol) - "SMAD4 gene mutation in HHT patients is independently associated with a higher risk of aortic root and ascending aortic dilation as compared to other HHT patients and non-HHT controls."

Journal • Biosimilar