ACVRL1 antibody Polyclonal Antibodies Primary antibodies
- Known as:
- ACVRL1 (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100117
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- ACVRL1 antibody Polyclonal Antibodies Primary antibodies
Related genes to: ACVRL1 antibody Polyclonal Antibodies Primary antibodies
- 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 Polyclonal Antibodies Primary antibodies
Related articles to: ACVRL1 antibody Polyclonal Antibodies Primary antibodies
- To diagnose undiagnosed Heritable Thoracic Aortic Disease (HTAD) using targeted Next-Generation Sequencing (NGS) technology on human aorta tissue obtained from a single-center biobank. - Source: PubMed
Publication date: 2026/04/17
Lee HaKim YoonjungKim Myeong SuLee Kyung-ASong Suk-Won - Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by multisystem arteriovenous malformations (AVMs). Still, the influence of demographic factors and specific pathogenic variants on systemic and cerebrovascular involvement remains incompletely defined. - Source: PubMed
Publication date: 2026/04/16
Palermo MatteoCocilovo FedericoTrevisi GianlucaLucci Cordisco EmanuelaDi Martino LuigiSonnini ElenaAlbanese AlessioDoglietto FrancescoOlivi AlessandroPola RobertoGaetani EleonoraSturiale Carmelo Lucio
- Source: PubMed
- Hereditary Hemorrhagic Telangiectasia (HHT) exhibits marked phenotypic heterogeneity. Although gene-organ associations are well established for visceral involvement, predictors of cerebrovascular malformations (CVMs), particularly brain arteriovenous malformations (bAVMs), remain incompletely defined. This study aimed to investigate genotype-phenotype correlations and identify predictors of bAVMs in a genetically confirmed HHT cohort. - Source: PubMed
Publication date: 2026/03/31
Sturiale Carmelo LucioCocilovo FedericoTrevisi GianlucaPalermo MatteoCordisco Emanuela LucciDi Martino LuigiSonnini ElenaAlbanese AlessioDoglietto FrancescoPola RobertoGaetani Eleonora - Hereditary hemorrhagic telangiectasia type 2 (HHT2) is an autosomal dominant vascular disorder caused by pathogenic variants in ACVRL1, which encodes activin receptor-like kinase 1 (ALK1). Here, we report the generation and characterization of an isogenic human induced pluripotent stem cell (hiPSC) line carrying a heterozygous ACVRL1 c.143G > A (p.Gly48Glu) mutation. The mutation was introduced using CRISPR/Cas9-mediated genome editing and confirmed by PCR and Sanger sequencing. The edited line retained normal karyotype, pluripotency, and trilineage differentiation capacity. This hiPSC line represents a relevant in vitro model for HHT2 disease modelling and drug testing. - Source: PubMed
Publication date: 2026/03/26
Koutala ECantarini CRaymond KarineLebrin Franck