#ACVRL1
We have been waiting impatiently but can finally share our latest efforts in understanding the biology of the TGF-beta type I receptor ALK1 (gene name ACVRL1), see graphical abstract in post and the full article here: www.jci.org/articles/vie...
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January 15, 2025 at 6:03 PM
Self-regulatory loop of BMP signaling

ALK1/ACVRL1 as a shear (2~20 dyn/cm2, peak at 8)-responsive gene, depending on its own activation status

Exogenous BMP10 rescues ALK1 transcript in No-Flow #Zebrafish (Tricaine tnnt2a MO)

KLF2-independent

#Angiogenesis 2024
link.springer.com/article/10.1...
March 31, 2025 at 11:27 AM
It is still possible to sign up for the conference on Bone Morphogenetic Proteins in May! 🧬🧶🧪🩸🔬👩‍🔬🦴🩺🤗 #BMP #activin #SMAD #ACVR1 #BMPR2 #BMP9 #ACVRL1
www.14thbmpconference2025.com
University of Pennsylvania | 14th International BMP Conference
It is our great pleasure to welcome you to the 14th International Bone Morphogenetic Protein (BMP) Conference, held at the University of Pennsylvania's Smilow Center for Translational Research in Phil...
www.14thbmpconference2025.com
March 11, 2025 at 6:59 AM
Controlled Induction of ALK1 in ACVRL1-null hiPSC-derived Endothelial Cells Provides Insight into Organ-Restricted AVMs in HHT https://www.biorxiv.org/content/10.1101/2025.08.22.671484v1
August 27, 2025 at 1:17 PM
Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in ENG and ACVRL1 https://www.medrxiv.org/content/10.1101/2024.12.20.24319290v1
December 24, 2024 at 3:40 PM
Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families #RareDisease #Genetics www.sciencedirect.com/science/arti...
June 15, 2026 at 8:01 PM
RRID:AB_2534102 from @thermofishersci.bsky.social was used by authors in their None paper. RRIDs improve reproducibility in scientific research. #ReproducibleResearch #reproducibility #accelerateopenscience
Controlled Induction of ALK1 in <i>ACVRL1</i>-null hiPSC-derived Endothelial Cells Provides Insight into Organ-Restricted AVMs in HHT
doi.org
September 5, 2025 at 7:00 AM
@thermofishersci.bsky.social's resource, RRID:AB_2535784, was just reported to be used in the paper. We value the author's support of reproducibility. #accelerateopenscience #reproducibility #STMpublishing
Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation
doi.org
August 27, 2025 at 4:56 AM
A paper using RRID:AB_1607719 from @proteintech.bsky.social was just published in Stem Cell Research. Thanks for making your methods matter! #OpenScience #ReproducibleResearch #methodsmatter
Generation of two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients harboring ACVRL1 mutations
Read the full paper: Generation of two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients harboring ACVRL1 mutations
doi.org
September 16, 2026 at 7:36 PM
ACVRL1:p, activin A receptor like type 1 (Homo sapiens) Midsized subunit; CTMs: ∅; PTMs: 0×K+acetyl; 0×K+succinyl; 1×K+GGyl; 0×K+SUMOyl; 3×S, 0×T, 0×Y+phosphoryl; 0×N+glycosyl; SAVS: ∅; mature form: (31-503, 9 exons) [1,816×, 4.1 kTa]. θ(max) = 61. aka […]

[Original post on mastodon.social]
October 21, 2024 at 11:51 PM
📢 A new study confirms the “second-hit” model in Hereditary Haemorrhagic Telangiectasia ( #HHT): Multiple lesion-specific ACVRL1 mutations were found in one patient, supporting the somatic mutation-driven formation of telangiectasias and AVMs 🧬 #VascularBiology #EJHG

www.nature.com/articles/s41...
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia - European Journal of Human Genetics
European Journal of Human Genetics - Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia
www.nature.com
January 6, 2026 at 7:54 AM
Controlled Induction of ALK1 in ACVRL1-null hiPSC-derived Endothelial Cells Provides Insight into Organ-Restricted AVMs in HHT https://www.biorxiv.org/content/10.1101/2025.08.22.671484v1
August 27, 2025 at 1:17 PM
An ALK1-governed monocytic lineage shapes an immunosuppressive landscape inbreast cancer metastases https://www.biorxiv.org/content/10.1101/2024.06.15.599147v1
An ALK1-governed monocytic lineage shapes an immunosuppressive landscape inbreast cancer metastases https://www.biorxiv.org/content/10.1101/2024.06.15.599147v1
The biology centered around the TGF-{beta} type I receptor ALK1 (encoded by ACVRL1) has been almost
www.biorxiv.org
June 17, 2024 at 10:51 PM
Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity https://www.biorxiv.org/content/10.1101/2024.01.25.576046v1
Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity https://www.biorxiv.org/content/10.1101/2024.01.25.576046v1
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the de
www.biorxiv.org
January 26, 2024 at 3:31 AM
An ALK1-governed monocytic lineage shapes an immunosuppressive landscape inbreast cancer metastases https://www.biorxiv.org/content/10.1101/2024.06.15.599147v1
An ALK1-governed monocytic lineage shapes an immunosuppressive landscape inbreast cancer metastases https://www.biorxiv.org/content/10.1101/2024.06.15.599147v1
The biology centered around the TGF-{beta} type I receptor ALK1 (encoded by ACVRL1) has been almost
www.biorxiv.org
June 17, 2024 at 10:51 PM
Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity https://www.biorxiv.org/content/10.1101/2024.01.25.576046v1
Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity https://www.biorxiv.org/content/10.1101/2024.01.25.576046v1
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the de
www.biorxiv.org
January 26, 2024 at 3:31 AM