Arteriovenous malformations (AVMs) are vascular anomalies where arteries and veins are directly connected through a complex, tangled web of abnormal arteries and veins instead of a normal capillary network. AVMs in the brain, lung, and visceral organs, including the liver and gastrointestinal tract, result in considerable morbidity and mortality. AVMs are the underlying cause of three major clinical symptoms of a genetic vascular dysplasia termed hereditary hemorrhagic telangiectasia (HHT), which is characterized by recurrent nosebleeds, mucocutaneous telangiectases, and visceral AVMs and caused by mutations in one of several genes, including activin receptor–like kinase 1 (ALK1). It remains unknown why and how selective blood vessels form AVMs, and there have been technical limitations to observing the initial stages of AVM formation. Here we present in vivo evidence that physiological or environmental factors such as wounds in addition to the genetic ablation are required for Alk1-deficient vessels to develop to AVMs in adult mice. Using the dorsal skinfold window chamber system, we have demonstrated for what we believe to be the first time the entire course of AVM formation in subdermal blood vessels by using intravital bright-field images, hyperspectral imaging, fluorescence recordings of direct arterial flow through the AV shunts, and vascular casting techniques. We believe our data provide novel insights into the pathogenetic mechanisms of HHT and potential therapeutic approaches.
Sung Ok Park, Mamta Wankhede, Young Jae Lee, Eun-Jung Choi, Naime Fliess, Se-Woon Choe, Seh-Hoon Oh, Glenn Walter, Mohan K. Raizada, Brian S. Sorg, S. Paul Oh
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The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology | 2015 |
Imaging of Small Animal Peripheral Artery Disease Models: Recent Advancements and Translational Potential
J Lin, E Phillips, TA Riggins, G Sangha, S Chakraborty, J Lee, R Lycke, C Hernandez, A Soepriatna, B Thorne, A Yrineo, C Goergen |
International journal of molecular sciences | 2015 |
Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations
NM Kofler, H Cuervo, MK Uh, A Murtomäki, J Kitajewski |
Scientific Reports | 2015 |
Targeting BMP signalling in cardiovascular disease and anaemia
NW Morrell, DB Bloch, P Dijke, MJ Goumans, A Hata, J Smith, PB Yu, KD Bloch |
Nature Reviews Cardiology | 2015 |
Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia
E Tillet, S Bailly |
Frontiers in Genetics | 2015 |
Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges
S Tual-Chalot, SP Oh, HM Arthur |
Frontiers in Genetics | 2015 |
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14
TG Letteboer, M Benzinou, CB Merrick, DA Quigley, K Zhau, IJ Kim, MD To, DM Jablons, JK van Amstel, CJ Westermann, S Giraud, S Dupuis-Girod, G Lesca, JH Berg, A Balmain, RJ Akhurst |
Frontiers in Genetics | 2015 |
Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1)
E Rossi, JÃ Lopez-Novoa, C Bernabeu |
Frontiers in Genetics | 2015 |
Pericytes as targets in hereditary hemorrhagic telangiectasia
JÃ Thalgott, D Dos-Santos-Luis, F Lebrin |
Frontiers in Genetics | 2015 |
Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia
DS Ardelean, M Letarte |
Frontiers in Genetics | 2015 |
Mouse Hepatic Tumor Vascular Imaging by Experimental Selective Angiography
SK Kim, H Kim, GY Koh, DS Lim, DY Yu, MD Kim, MS Park, JS Lim, XY Guan |
PloS one | 2015 |
Animal Models in Studying Cerebral Arteriovenous Malformation
M Xu, H Xu, Z Qin |
BioMed Research International | 2015 |
Experimental Animal Models of Arteriovenous Malformation: A Review
J Raj, M Stoodley |
Veterinary Sciences | 2015 |
Mouse Models of Cerebral Arteriovenous Malformation
CM Nielsen, L Huang, PA Murphy, MT Lawton, RA Wang |
Stroke; a journal of cerebral circulation | 2015 |
Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels
PA Murphy, TN Kim, L Huang, CM Nielsen, MT Lawton, RH Adams, CB Schaffer, RA Wang |
Proceedings of the National Academy of Sciences | 2014 |
VEGF neutralization can prevent and normalize arteriovenous malformations in an animal model for hereditary hemorrhagic telangiectasia 2
C Han, S Choe, YH Kim, AP Acharya, BG Keselowsky, BS Sorg, YJ Lee, SP Oh |
Angiogenesis | 2014 |
Brain Arteriovenous Malformation Modeling, Pathogenesis, and Novel Therapeutic Targets
W Chen, EJ Choi, CM McDougall, H Su |
Translational Stroke Research | 2014 |
Endothelial depletion of acvrl1 in mice leads to arteriovenous malformations associated with reduced endoglin expression
S Tual-Chalot, M Mahmoud, KR Allinson, RE Redgrave, Z Zhai, SP Oh, M Fruttiger, HM Arthur |
PloS one | 2014 |
Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia
EJ Choi, W Chen, K Jun, HM Arthur, WL Young, H Su |
PloS one | 2014 |
Zebrafish models of cerebrovascular disease
BP Walcott, RT Peterson |
Journal of Cerebral Blood Flow & Metabolism | 2014 |
Limitations of the dorsal skinfold window chamber model in evaluating anti-angiogenic therapy during early phase of angiogenesis
NM Biel, JA Lee, BS Sorg, DW Siemann |
Vascular cell | 2014 |
Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia
EH Moon, YS Kim, J Seo, S Lee, YJ Lee, SP Oh |
Cardiovascular Research | 2014 |
Human brain arteriovenous malformations express lymphatic-associated genes
LD Shoemaker, LF Fuentes, SM Santiago, BM Allen, DJ Cook, GK Steinberg, SD Chang |
Annals of Clinical and Translational Neurology | 2014 |
Methods in Molecular Biology
W Chen, WL Young, H Su |
Methods in molecular biology (Clifton, N.J.) | 2014 |
De Novo Cerebrovascular Malformation in the Adult Mouse After Endothelial Alk1 Deletion and Angiogenic Stimulation
W Chen, Z Sun, Z Han, K Jun, M Camus, M Wankhede, L Mao, T Arnold, WL Young, H Su |
Stroke; a journal of cerebral circulation | 2014 |
ALK5 and ALK1 Play Antagonistic Roles in Transforming Growth Factor -Induced Podosome Formation in Aortic Endothelial Cells
F Curado, P Spuul, I Egana, P Rottiers, T Daubon, V Veillat, P Duhamel, A Leclercq, E Gontier, E Genot |
Molecular and cellular biology | 2014 |
Deletion of Rbpj from postnatal endothelium leads to abnormal arteriovenous shunting in mice
CM Nielsen, H Cuervo, VW Ding, Y Kong, EJ Huang, RA Wang |
Development (Cambridge, England) | 2014 |
Developmental and pathological angiogenesis in the central nervous system
M Vallon, J Chang, H Zhang, CJ Kuo |
Cellular and Molecular Life Sciences | 2014 |
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations
M Amyere, V Aerts, P Brouillard, BA McIntyre, FP Duhoux, M Wassef, O Enjolras, JB Mulliken, O Devuyst, H Antoine-Poirel, LM Boon, M Vikkula |
The American Journal of Human Genetics | 2013 |
Bone morphogenetic protein-9 inhibits lymphatic vessel formation via activin receptor-like kinase 1 during development and cancer progression
Y Yoshimatsu, YG Lee, Y Akatsu, L Taguchi, HI Suzuki, SI Cunha, K Maruyama, Y Suzuki, T Yamazaki, A Katsura, SP Oh, TA Zimmers, SJ Lee, K Pietras, GY Koh, K Miyazono, T Watabe |
Proceedings of the National Academy of Sciences | 2013 |
On the versatility of von Willebrand factor
A Rauch, N Wohner, OD Christophe, CV Denis, S Susen, PJ Lenting |
Mediterranean journal of hematology and infectious diseases | 2013 |
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency
Y Yao, J Yao, M Radparvar, AM Blazquez-Medela, PJ Guihard, M Jumabay, KI Boström |
Proceedings of the National Academy of Sciences | 2013 |
Endothelial signaling and the molecular basis of arteriovenous malformation
D Atri, B Larrivée, A Eichmann, M Simons |
Cellular and Molecular Life Sciences | 2013 |
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia
FS Govani, A Giess, IG Mollet, ME Begbie, MD Jones, L Game, CL Shovlin |
Molecular syndromology | 2013 |
SnoN facilitates ALK1-Smad1/5 signaling during embryonic angiogenesis
Q Zhu, YH Kim, D Wang, SP Oh, K Luo |
The Journal of Cell Biology | 2013 |
Enhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2
EJ Choi, YH Kim, S Choe, YG Tak, EM Garrido-Martin, M Chang, YJ Lee, SP Oh |
PloS one | 2013 |
Vascular Injury Triggers Krüppel-Like Factor 6 Mobilization and Cooperation With Specificity Protein 1 to Promote Endothelial Activation Through Upregulation of the Activin Receptor-Like Kinase 1 Gene
EM Garrido-Martín, FJ Blanco, M Roquè, L Novensà, M Tarocchi, UE Lang, T Suzuki, SL Friedman, LM Botella, C Bernabéu |
Circulation research | 2013 |
Minimal homozygous endothelial deletion of Eng with VEGF stimulation is sufficient to cause cerebrovascular dysplasia in the adult mouse
EJ Choi, EJ Walker, F Shen, SP Oh, HM Arthur, WL Young, H Su |
Cerebrovascular Diseases | 2012 |
Signaling Required for Blood Vessel Maintenance: Molecular Basis and Pathological Manifestations
M Murakami |
International Journal of Vascular Medicine | 2012 |
Transforming growth factor-β and smooth muscle differentiation
X Guo, SY Chen |
World journal of biological chemistry | 2012 |
Vascular anomalies: from genetics toward models for therapeutic trials
M Uebelhoer, LM Boon, M Vikkula |
Cold Spring Harbor Perspectives in Medicine | 2012 |
Endothelial Expression of TGFβ Type II Receptor Is Required to Maintain Vascular Integrity during Postnatal Development of the Central Nervous System
KR Allinson, HS Lee, M Fruttiger, J McCarty, HM Arthur |
PloS one | 2012 |
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient
M Ha, YJ Kim, KA Kwon, KB Hahm, MJ Kim, DK Kim, YJ Lee, SP Oh |
World journal of gastroenterology : WJG | 2012 |
Reduced mural cell coverage and impaired vessel integrity after angiogenic stimulation in the Alk1-deficient brain
W Chen, Y Guo, EJ Walker, F Shen, K Jun, SP Oh, V Degos, MT Lawton, T Tihan, D Davalos, K Akassoglou, J Nelson, J Pile-Spellman, H Su, WL Young |
Arteriosclerosis, thrombosis, and vascular biology | 2012 |
BMP9 induces EphrinB2 expression in endothelial cells through an Alk1-BMPRII/ActRII-ID1/ID3-dependent pathway: implications for hereditary hemorrhagic telangiectasia type II
JH Kim, MR Peacock, SC George, CC Hughes |
Angiogenesis | 2012 |
Bevacizumab attenuates VEGF-induced angiogenesis and vascular malformations in the adult mouse brain
EJ Walker, H Su, F Shen, V Degos, G Amend, K Jun, WL Young |
Stroke; a journal of cerebral circulation | 2012 |
BMP9 and BMP10 are critical for postnatal retinal vascular remodeling
N Ricard, D Ciais, S Levet, M Subileau, C Mallet, TA Zimmers, SJ Lee, M Bidart, JJ Feige, S Bailly |
Blood | 2012 |
Anti-human activin receptor-like kinase 1 (ALK1) antibody attenuates bone morphogenetic protein 9 (BMP9)-induced ALK1 signaling and interferes with endothelial cell sprouting
LA van Meeteren, M Thorikay, S Bergqvist, E Pardali, CG Stampino, D Hu-Lowe, MJ Goumans, P Dijke |
The Journal of biological chemistry | 2012 |
ALK1 signaling inhibits angiogenesis by cooperating with the Notch pathway
B Larrivée, C Prahst, E Gordon, R Toro, T Mathivet, A Duarte, M Simons, A Eichmann |
Developmental Cell | 2012 |
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia
M Benzinou, FF Clermont, TG Letteboer, JH Kim, S Espejel, KA Harradine, J Arbelaez, MT Luu, R Roy, D Quigley, MN Higgins, M Zaid, BE Aouizerat, JK van Amstel, S Giraud, S Dupuis-Girod, G Lesca, H Plauchu, CC Hughes, CJ Westermann, RJ Akhurst |
Nature Communications | 2012 |
Arteriovenous Malformations and Other Vascular Malformation Syndromes
KJ Whitehead, MC Smith, DY Li |
Cold Spring Harbor Perspectives in Medicine | 2012 |
Arteriovenous Malformation in the Adult Mouse Brain Resembling the Human Disease
EJ Walker, H Su, F Shen, EJ Choi, SP Oh, G Chen, MT Lawton, H Kim, Y Chen, W Chen, WL Young |
Annals of Neurology | 2011 |
Interaction between alk1 and blood flow in the development of arteriovenous malformations
P Corti, S Young, CY Chen, MJ Patrick, ER Rochon, K Pekkan, BL Roman |
Development (Cambridge, England) | 2011 |
Surgical Approaches to Create Murine Models of Human Wound Healing
VW Wong, M Sorkin, JP Glotzbach, MT Longaker, GC Gurtner |
Journal of Biomedicine and Biotechnology | 2011 |
Cerebrovascular disorders: molecular insights and therapeutic opportunities
E Storkebaum, A Quaegebeur, M Vikkula, P Carmeliet |
Nature Neuroscience | 2011 |
ALK1 as an emerging target for antiangiogenic therapy of cancer
SI Cunha, K Pietras |
Blood | 2011 |
Brain Arteriovenous Malformation Pathogenesis: A Response-to-Injury Paradigm
H Kim, H Su, S Weinsheimer, L Pawlikowska, WL Young |
Acta neurochirurgica. Supplement | 2011 |
Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment
A Bharatha, ME Faughnan, H Kim, T Pourmohamad, T Krings, P Bayrak-Toydemir, L Pawlikowska, CE McCulloch, MT Lawton, CF Dowd, WL Young, KG Terbrugge |
Stroke; a journal of cerebral circulation | 2011 |
Endothelial von Willebrand factor regulates angiogenesis
RD Starke, F Ferraro, KE Paschalaki, NH Dryden, TA McKinnon, RE Sutton, EM Payne, DO Haskard, AD Hughes, DF Cutler, MA Laffan, AM Randi |
Blood | 2010 |
BMP signaling in vascular development and disease
JW Lowery, MP de Caestecker |
Cytokine & Growth Factor Reviews | 2010 |
Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes
FS Govani, CL Shovlin |
Journal of angiogenesis research | 2010 |
VEGF Induces More Severe Cerebrovascular Dysplasia in Eng+/− than in Alk1+/− Mice
Q Hao, Y Zhu, H Su, F Shen, GY Yang, H Kim, WL Young |
Translational Stroke Research | 2010 |
Spectral imaging reveals microvessel physiology and function from anastomoses to thromboses
M Wankhede, N Agarwal, RA Fraga-Silva, C deDeugd, MK Raizada, SP Oh, BS Sorg |
Journal of Biomedical Optics | 2010 |
Reply to Fernández-Fernández
Shovlin CL, Govani FS |
European Journal of Human Genetics | 2009 |