Explanipedia

Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and ACVRL1 Open

Anthony R. Anzell, Charles C. White, Brenda Diergaarde, Jenna C. Carlson, Beth L. Roman · 2025

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a near-fully penetrant autosomal dominant disorder characterized by nosebleeds, anemia, and arteriovenous malformations. The great majority of HHT cases are caused by heterozygous …

Prodomain processing controls BMP ‐10 bioactivity and targeting to fibrillin‐1 in latent conformation Open

Chara E. S. Spanou, Chengeng Yang, Alan R. Godwin, Stefanie A. Morosky, Arulselvi Anbalagan , et al. · 2025

Bone morphogenetic protein 10 (BMP‐10) is crucial for endothelial cell signaling via activin receptor‐like kinase 1 (ALK1), a pathway central to vascular homeostasis and angiogenesis. Dysregulated BMP‐10 signaling contributes to cardiovasc…

Molecular Basis of Interchain Disulfide Bond Formation in BMP-9 and BMP-10 Open

Tristin A. Schwartze, Stefanie A. Morosky, Teresa L. Rosato, Amy Henrickson, Guowu Lin , et al. · 2025

Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants inENGandACVRL1 Open

Anthony R. Anzell, Charles C. White, Brenda Diergaarde, Jenna C. Carlson, Beth L. Roman · 2024

Background Hereditary hemorrhagic telangiectasia (HHT) is considered a fully penetrant autosomal dominant disorder characterized by the development of arteriovenous malformations. Up to 96% of HHT cases are caused by heterozygous loss-of-f…

Molecular basis of interchain disulfide-bond formation in BMP-9 and BMP-10 Open

Tristin A. Schwartze, Stefanie A. Morosky, Teresa L. Rosato, Amy Henrickson, Guowu Lin , et al. · 2024

BMP-9 and BMP-10 are TGF-β family signaling ligands naturally secreted into blood. They act on endothelial cells and are required for proper development and maintenance of the vasculature. In hereditary hemorrhagic telangiectasia, regulati…

Shear Stress and Sub-Femtomolar Levels of Ligand Synergize to Activate ALK1 Signaling in Endothelial Cells Open

Ya-Wen Cheng, Anthony R. Anzell, Stefanie A. Morosky, Tristin A. Schwartze, Cynthia S. Hinck , et al. · 2024

Endothelial cells (ECs) respond to concurrent stimulation by biochemical factors and wall shear stress (SS) exerted by blood flow. Disruptions in flow-induced responses can result in remodeling issues and cardiovascular diseases, but the d…

Blood flow regulatesacvrl1transcription via ligand-dependent Alk1 activity Open

Anthony R. Anzell, A. B. Reske Kunz, James P. Donovan, Thanhlong G. Tran, Xinyan Lu , et al. · 2024

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the development of arteriovenous malformations (AVMs) that can result in significant morbidity and mortality. HHT is caused primarily by mutation…

Shear stress and very low levels of ligand synergize to activate ALK1 signaling in endothelial cells Open

Ya-Wen Cheng, Anthony R. Anzell, Tristin A. Schwartze, Cynthia S. Hinck, Andrew P. Hinck , et al. · 2023

Endothelial cells (ECs) respond to concurrent stimulation by biochemical fac-tors and wall shear stress (SS) exerted by blood flow. Disruptions in flow-induced responses can result in remodeling issues and cardiovascular diseases, but the …

An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms Open

Helen M. Arthur, Beth L. Roman · 2022

Endoglin (ENG) is expressed on the surface of endothelial cells (ECs) where it efficiently binds circulating BMP9 and BMP10 ligands to initiate activin A receptor like type 1 (ALK1) protein signalling to protect the vascular architecture. …

In Search of “Hepatic Factor”: Lack of Evidence for ALK1 Ligands BMP9 and BMP10 Open

Teresa L. Capasso, Sara M. Trucco, Morgan Hindes, Tristin A. Schwartze, Jamie L. Bloch , et al. · 2020

In children with single ventricle physiology, the Glenn procedure is performed to redirect venous return from the superior vena cava directly to the pulmonary arteries and route venous return from the inferior vena cava exclusively to the …

In search of “hepatic factor:” Lack of evidence for ALK1 ligands BMP9 and BMP10 Open

Teresa L. Capasso, Sara M. Trucco, Morgan Hindes, Tristin A. Schwartze, Jamie L. Bloch , et al. · 2020

In children with single ventricle physiology, the Glenn procedure is performed to redirect venous return from the superior vena cava directly to the pulmonary arteries and route venous return from the inferior vena cava exclusively to the …

Endothelial Cell Polarization and Orientation to Flow in a Novel Microfluidic Multimodal Shear Stress Generator Open

Utku M. Sönmez, Ya-Wen Cheng, Simon C. Watkins, Beth L. Roman, Lance A. Davidson · 2020

Endothelial cells (EC) respond to shear stress to maintain vascular homeostasis, and a disrupted response is associated with cardiovascular diseases. To understand how different shear stress modalities affect EC morphology and behavior, we…

BMP9/10 in Pulmonary Vascular Complications of Liver Disease Open

Elizabeth R. Rochon, Michael J. Krowka, Sonja Bartolome, Gustavo A. Heresi, Todd M. Bull , et al. · 2020

Cardiac function modulates endocardial cell dynamics to shape the cardiac outflow tract Open

Pragya Sidhwani, Dena M. Leerberg, Giulia L. M. Boezio, Teresa L. Capasso, Hongbo Yang , et al. · 2020

Physical forces are important participants in the cellular dynamics that shape developing organs. During heart formation, for example, contractility and blood flow generate biomechanical cues that influence patterns of cell behavior. Here,…

Endothelial cell polarization and orientation to flow in a novel microfluidic multimodal shear stress generator Open

Utku M. Sönmez, Ya-Wen Cheng, Simon C. Watkins, Beth L. Roman, Lance A. Davidson · 2020

Endothelial cell polarization and orientation analysis using a novel microfluidic device that can simultaneously generate multiple levels of shear stress and shear stress gradients for systematic mechanobiology studies under flow.

BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance Open

Teresa L. Capasso, Bijun Li, Harry J. Volek, Waqas Khalid, Elizabeth R. Rochon , et al. · 2019

Cardiac function modulates endocardial cell dynamics to shape the cardiac outflow tract Open

Pragya Sidhwani, Giulia L. M. Boezio, Hongbo Yang, C. Neil, Beth L. Roman , et al. · 2019

Physical forces are important participants in the cellular dynamics that shape developing organs. During heart formation, for example, contractility and blood flow generate biomechanical cues that influence patterns of cell behavior. Here,…

Enhancing regeneration after acute kidney injury by promoting cellular dedifferentiation in zebrafish Open

Lauren Brilli Skvarca, Hwa In Han, Eugenel B. Espiritu, Maria A. Missinato, Elizabeth R. Rochon , et al. · 2019

Acute kidney injury (AKI) is a serious disorder for which there are limited treatment options. Following injury, native nephrons display limited regenerative capabilities, relying on the dedifferentiation and proliferation of renal tubular…

Enhancing acute kidney injury regeneration by promoting cellular dedifferentiation in zebrafish Open

Lauren Brilli Skvarca, Hwa In Han, Eugenel B. Espiritu, Maria A. Missinato, Elizabeth R. Rochon , et al. · 2018

Acute kidney injury (AKI) is a serious disorder for which there is no approved pharmaceutical treatment. Following injury, native nephrons display limited regenerative capabilities, relying on the dedifferentiation and proliferation of ren…

ALK1 signaling in development and disease: new paradigms Open

Beth L. Roman, Andrew P. Hinck · 2017

Pharmacological intervention of MKL/SRF signaling by CCG-1423 impedes endothelial cell migration and angiogenesis Open

David Gau, William Veon, Teresa L. Capasso, Ralph T. Böttcher, Sanjeev G. Shroff , et al. · 2017

Catching a Disease: A Molecular Trap as a Therapy for Pulmonary Arterial Hypertension Open

Beth L. Roman, Cynthia St. Hilaire · 2016

Alk1 controls arterial endothelial cell migration in lumenized vessels Open

Elizabeth R. Rochon, Prahlad G. Menon, Beth L. Roman · 2016

Heterozygous loss of the arterial-specific TGF-β type I receptor, activin receptor-like kinase 1 (ALK1), causes hereditary hemorrhagic telangiectasia (HHT). HHT is characterized by development of fragile, direct connections between arterie…

Retinoic Acid Signaling Coordinates Macrophage-Dependent Injury and Repair after AKI Open

Takuto Chiba, Nataliya Skrypnyk, Lauren Brilli Skvarca, Radostin Penchev, Ke Xin Zhang , et al. · 2015

Retinoic acid (RA) has been used therapeutically to reduce injury and fibrosis in models of AKI, but little is known about the regulation of this pathway and what role it has in regulating injury and repair after AKI. In these studies, we …

Context-specific interactions between Notch and ALK1 cannot explain ALK1-associated arteriovenous malformations Open

Elizabeth R. Rochon, Daniel Shane Wright, Max M. Schubert, Beth L. Roman · 2015

Notch and activin receptor-like kinase 1 (ALK1) have been implicated in arterial specification, angiogenic tip/stalk cell differentiation, and development of arteriovenous malformations (AVMs), and ALK1 can cooperate with Notch to up-regul…

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