Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome

Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome

(2019) Elena Gallo MacFarlane et al.   JOURNAL OF CLINICAL INVESTIGATION

Vascular Ehlers-Danlos Syndrome Management

(2019) Julie De Backer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Vascular Ehlers-Danlos Syndrome

(2019) Michael Frank et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome

(2019) Jennifer Pardo Habashi et al.   Science Translational Medicine

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases

(2019) Helena Kuivaniemi et al.   GENE

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

(2018) Sanne D'hondt et al.   MATRIX BIOLOGY

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

(2018) Nicola Chiarelli et al.   PLoS One

Absence of LTBP-3 attenuates the aneurysmal phenotype but not spinal effects on the aorta in Marfan syndrome

(2018) A. Korneva et al.   Biomechanics and Modeling in Mechanobiology

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

(2017) Laura Vandervore et al.   JOURNAL OF MEDICAL GENETICS

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

(2017) Francesca Cortini et al.   Vascular and Endovascular Surgery

Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE

(2017) Mary J. Roman et al.   Circulation-Cardiovascular Genetics

Sex Chromosome Complement Defines Diffuse Versus Focal Angiotensin II–Induced Aortic Pathology

(2017) Yasir Alsiraj et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Premature aortic smooth muscle cell differentiation contributes to matrix dysregulation in Marfan Syndrome

(2017) Matthew Dale et al.   PLoS One

Female Mice With an XY Sex Chromosome Complement Develop Severe Angiotensin II–Induced Abdominal Aortic AneurysmsClinical Perspective

(2016) Yasir Alsiraj et al.   CIRCULATION

Pharmacologic blockade and genetic deletion of androgen receptor attenuates aortic aneurysm formation

(2016) John P. Davis et al.   JOURNAL OF VASCULAR SURGERY

Pathophysiology of aortic aneurysm: insights from human genetics and mouse models

(2016) Nicole K Wilson et al.   PHARMACOGENOMICS

Androgen Receptor Promotes Abdominal Aortic Aneurysm Development via Modulating Inflammatory Interleukin-1α and Transforming Growth Factor-β1 ExpressionNovelty and Significance

(2015) Chiung-Kuei Huang et al.   HYPERTENSION

Castration of male mice prevents the progression of established angiotensin II-induced abdominal aortic aneurysms

(2015) Xuan Zhang et al.   JOURNAL OF VASCULAR SURGERY

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome

(2015) Jefferson J Doyle et al.   eLife

Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome

(2014) Mitzi L. Murray et al.   GENETICS IN MEDICINE

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

(2014) Melanie G. Pepin et al.   GENETICS IN MEDICINE

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

(2014) Sherene Shalhub et al.   JOURNAL OF VASCULAR SURGERY

Combined Vemurafenib and Cobimetinib in BRAF-Mutated Melanoma

(2014) James Larkin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mechanism for Adhesion G Protein-Coupled Receptor GPR56-Mediated RhoA Activation Induced By Collagen III Stimulation

(2014) Rong Luo et al.   PLoS One

EBSeq: an empirical Bayes hierarchical model for inference in RNA-seq experiments

(2013) Ning Leng et al.   BIOINFORMATICS

Angiotensin II Promotes Thoracic Aortic Dissections and Ruptures in Col3a1 Haploinsufficient Mice

(2013) Julie Faugeroux et al.   HYPERTENSION

Vascular Ehlers-Danlos Syndrome Mutations in Type III Collagen Differently Stall the Triple Helical Folding

(2013) Kazunori Mizuno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

(2013) Elena M. Gallo et al.   JOURNAL OF CLINICAL INVESTIGATION

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers–Danlos syndrome fibroblasts

(2012) Nicoletta Zoppi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Oxytocin and Vasopressin Agonists and Antagonists as Research Tools and Potential Therapeutics

(2012) M. Manning et al.   JOURNAL OF NEUROENDOCRINOLOGY

Disease-Associated Mutations Prevent GPR56-Collagen III Interaction

(2012) Rong Luo et al.   PLoS One

Bicuspid Aortic Valve Disease and Ascending Aortic Aneurysms: Gaps in Knowledge

(2012) Katie L. Losenno et al.   Cardiology Research and Practice

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

(2011) Dru F. Leistritz et al.   GENETICS IN MEDICINE

Doxycycline Ameliorates the Susceptibility to Aortic Lesions in a Mouse Model for the Vascular Type of Ehlers-Danlos Syndrome

(2011) W. Briest et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Noncanonical TGF  Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice

(2011) T. M. Holm et al.   SCIENCE

Angiotensin II Type 2 Receptor Signaling Attenuates Aortic Aneurysm in Mice Through ERK Antagonism

(2011) J. P. Habashi et al.   SCIENCE

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers–Danlos syndrome

(2010) Lee B. Smith et al.   CARDIOVASCULAR RESEARCH

Angiotensin II infusion promotes ascending aortic aneurysms: attenuation by CCR2 deficiency in apoE−/−mice

(2010) Alan Daugherty et al.   CLINICAL SCIENCE

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

(2010) Kim-Thanh Ong et al.   LANCET

The Haploinsufficient Col3a1 Mouse as a Model for Vascular Ehlers-Danlos Syndrome

(2010) T. K. Cooper et al.   VETERINARY PATHOLOGY

Androgen Increases AT1a Receptor Expression in Abdominal Aortas to Promote Angiotensin II–Induced AAAs in Apolipoprotein E–Deficient Mice

(2008) Tracy Henriques et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY