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View article: Systematic disruption of zebrafish fibrillin genes identifies a translational zebrafish model for Marfan syndrome
Systematic disruption of zebrafish fibrillin genes identifies a translational zebrafish model for Marfan syndrome Open
Background Fibrillins are essential components of the extracellular matrix. Marfan syndrome (MFS), the most common fibrillinopathy, is characterized by severe cardiovascular complications, including cardiac valve abnormalities, myocardial …
View article: Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration
Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration Open
BACKGROUND: Aortic dissection (AD) is the separation of medial layers of the aorta and is a major cause of death in patients with connective tissue disorders such as Marfan syndrome. However, molecular triggers instigating AD, its temporos…
View article: Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Open
Thoracic aortic aneurysm and dissection (TAAD) significantly impact cardiovascular morbidity and mortality. A large subset of TAAD cases, particularly those with an earlier onset, is linked to heritable genetic defects. Despite progress in…
View article: A novel genetic mouse model of fatal aortic dissection reveals massive inflammatory cell infiltration in the thoracic aorta
A novel genetic mouse model of fatal aortic dissection reveals massive inflammatory cell infiltration in the thoracic aorta Open
Background Aortic dissection (AD) is the separation of medial layers of the aorta and is a major cause of death in patients with connective tissue disorders such as Marfan syndrome. However, molecular triggers instigating AD, its temporosp…
View article: Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture
Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture Open
Thoracic aortic aneurysm and dissection (TAAD) associates with a high mortality rate. Despite the existence of different mouse models for TAAD, the underlying disease mechanisms remain elusive. Treatment options are limited and mainly cons…
View article: From Corrosion Casting to Virtual Dissection: Contrast‐Enhanced Vascular Imaging using Hafnium Oxide Nanocrystals
From Corrosion Casting to Virtual Dissection: Contrast‐Enhanced Vascular Imaging using Hafnium Oxide Nanocrystals Open
Vascular corrosion casting is a method used to visualize the three dimensional (3D) anatomy and branching pattern of blood vessels. A polymer resin is injected in the vascular system and, after curing, the surrounding tissue is removed. Th…
View article: Application of an automated analysis framework for pulsed-wave Doppler cardiac ultrasound measurements to generate reference data in adult zebrafish
Application of an automated analysis framework for pulsed-wave Doppler cardiac ultrasound measurements to generate reference data in adult zebrafish Open
High-frequency cardiac ultrasound is the only well-established method to characterize in vivo cardiovascular function in adult zebrafish noninvasively. Pulsed-wave Doppler imaging allows measurements of blood flow velocities at well-define…
View article: Unraveling the role of TGFβ signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models
Unraveling the role of TGFβ signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models Open
View article: Poly (A)-specific ribonuclease deficiency impacts oogenesis in zebrafish
Poly (A)-specific ribonuclease deficiency impacts oogenesis in zebrafish Open
View article: From corrosion casting to virtual dissection: contrast-enhanced vascular imaging using hafnium oxide nanocrystals
From corrosion casting to virtual dissection: contrast-enhanced vascular imaging using hafnium oxide nanocrystals Open
Vascular corrosion casting is a method used to visualize the three dimensional anatomy and branching pattern of blood vessels, guiding insight into health and cardiovascular disease pathogenesis and progression. A polymer resin is injected…
View article: Fluid-Structure Interaction Modeling of the Aortic Hemodynamics in Adult Zebrafish: A Pilot Study Based on Synchrotron X-Ray Tomography
Fluid-Structure Interaction Modeling of the Aortic Hemodynamics in Adult Zebrafish: A Pilot Study Based on Synchrotron X-Ray Tomography Open
Objective : The zebrafish is increasingly used as a small animal model for cardiovascular disease, including vascular disorders. Nevertheless, a comprehensive biomechanical understanding of the zebrafish cardiovascular circulation is still…
View article: Poster No. 133 Local TGF-beta sequestration by fibrillin-1 regulates vascular wall homeostasis in the thoracic aorta
Poster No. 133 Local TGF-beta sequestration by fibrillin-1 regulates vascular wall homeostasis in the thoracic aorta Open
Introduction Marfan syndrome (MFS) is caused by a defect in fibrillin-1, which binds TGF-beta via interaction with latent TGF-beta binding proteins (LTBPs). The role of TGF-beta in MFS is controversial. Objectives use dedicated mouse model…
View article: Local TGF-beta sequestration by fibrillin-1 regulates vascular wall homeostasis in the thoracic aorta
Local TGF-beta sequestration by fibrillin-1 regulates vascular wall homeostasis in the thoracic aorta Open
Background Aortic dissection and rupture is the main cause of early cardiovascular mortality in patients with Marfan syndrome (MFS). MFS is caused by a defect in fibrillin-1, a building block of microfibrils in the extracellular matrix whi…
View article: Poster No. 134 Zebrafish as a tool to study cardiovascular effects caused by fibrillin impairment
Poster No. 134 Zebrafish as a tool to study cardiovascular effects caused by fibrillin impairment Open
Introduction Marfan syndrome (MFS) is the most common type of fibrillinopathy with a high predisposition to develop TAAD. A thorough understanding of the underlying mechanisms is still lacking, indicating a particular need for more flexibl…
View article: Glyoxylate protects against cyanide toxicity through metabolic modulation
Glyoxylate protects against cyanide toxicity through metabolic modulation Open
View article: Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Open
View article: Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India Open
Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case seri…
View article: Characterizing the cardiovascular phenotype of a new zebrafish model of Marfan syndrome
Characterizing the cardiovascular phenotype of a new zebrafish model of Marfan syndrome Open
Background Marfan syndrome (MFS) is a rare disease caused by a defect in the fibrillin-1 gene (FBN1), with potentially severe cardiovascular manifestations. MFS patients are particularly susceptible to a progressive aortic dilation leading…
View article: Poly (A)-specific ribonuclease (PARN): More than just “mRNA stock clearing”
Poly (A)-specific ribonuclease (PARN): More than just “mRNA stock clearing” Open
View article: An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome
An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome Open
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease affects multiple organ systems, the most life-threatening …
View article: Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures Open
The inability to maintain a strictly regulated endo(lyso)somal acidic pH through the proton-pumping action of the vacuolar-ATPases (v-ATPases) has been associated with various human diseases including heritable connective tissue disorders.…
View article: Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Open
View article: Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification<i>in vivo</i>
Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification<i>in vivo</i> Open
The inability to maintain a strictly regulated endo(lyso)somal acidic pH through the proton-pumping action of the vacuolar-ATPases has been associated with various human diseases including heritable connective tissue disorders, neurodegene…
View article: Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome
Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome Open
Patients with Marfan syndrome (MFS), a connective tissue disorder caused by pathogenic variants in the gene encoding the extracellular matrix protein fibrillin-1, have an increased prevalence of primary cardiomyopathy, arrhythmias, and sud…
View article: MEK1/2 Inhibition in Murine Heart and Aorta After Oral Administration of Refametinib Supplemented Drinking Water
MEK1/2 Inhibition in Murine Heart and Aorta After Oral Administration of Refametinib Supplemented Drinking Water Open
Upregulation of the RAS-RAF-MEK-ERK-MAPK pathway is involved in the development of several human tumors, aortic aneurysms, atherosclerosis, and cardiomyopathy. Refametinib, a highly selective MEK-inhibitor, has already shown antineoplastic…
View article: Ambulatory Electrocardiographic Monitoring and Ectopic Beat Detection in Conscious Mice
Ambulatory Electrocardiographic Monitoring and Ectopic Beat Detection in Conscious Mice Open
Ambulatory electrocardiography (AECG) is a primary diagnostic tool in patients with potential arrhythmic disorders. To study the pathophysiological mechanisms of arrhythmic disorders, mouse models are widely implemented. The use of a techn…
View article: Corrosion casting of the cardiovascular structure in adult zebrafish for analysis by scanning electron microscopy and X‐ray microtomography
Corrosion casting of the cardiovascular structure in adult zebrafish for analysis by scanning electron microscopy and X‐ray microtomography Open
Zebrafish have come to the forefront as a flexible, relevant animal model to study human disease, including cardiovascular disorders. Zebrafish are optically transparent during early developmental stages, enabling unparalleled imaging moda…
View article: Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases Open
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge. We …
View article: Screening drugs for myocardial disease in vivo with zebrafish: an expert update
Screening drugs for myocardial disease in vivo with zebrafish: an expert update Open
Our understanding of the complexity of cardiovascular disease pathophysiology remains very incomplete and has hampered cardiovascular drug development over recent decades. The prevalence of cardiovascular diseases and their increasing glob…
View article: A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta Open
The cyclic adenosine monophosphate responsive element binding protein 3-like 1 (CREB3L1) gene codes for the endoplasmic reticulum stress transducer old astrocyte specifically induced substance (OASIS), which has an important role in osteob…