Patrick Smits
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View article: MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations
MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations Open
Nonsyndromic capillary malformations (CM) are seen predominantly in skin. In Sturge–Weber Syndrome (SWS), CMs occur in the skin, leptomeninges of the brain, and choroid of the eye. >90% of CM are caused by a somatic mutation— GNAQ p.R183Q,…
View article: MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations
MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations Open
Capillary malformations (CM) are slow-flow vascular abnormalities present at birth and predominantly manifest as cutaneous lesions. In the rare neurocutaneous disorder known as Sturge Weber Syndrome (SWS), individuals exhibit CM not only o…
View article: An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q
An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q Open
Capillary malformation (CM) is a congenital, non-hereditary lesion composed of enlarged and tortuous blood vessels. CM is associated with a somatic GNAQ p.R183Q activating mutation in endothelial cells (EC). Cutaneous CMs are present in 1/…
View article: P30. Arteriovenous Malformation Map2k1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro and In-vivo
P30. Arteriovenous Malformation Map2k1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro and In-vivo Open
PURPOSE: Arteriovenous malformation (AVM) is a fast-flow vascular anomaly characterized by abnormal arterial to venous shunts. Extracranial AVMs contain a somatic mutation in MAP2K1. The PURPOSE of this study was to: (1) create a stable MA…
View article: 75. Trametinib Prevents Formation of Vascular Lesions in a MAP2k1-p.K57N Arteriovenous Malformation Mouse Model
75. Trametinib Prevents Formation of Vascular Lesions in a MAP2k1-p.K57N Arteriovenous Malformation Mouse Model Open
Purpose: Extracranial arteriovenous malformation (AVM) is caused by a MAP2K1 mutation in endothelial cells (ECs). We previously generated a mouse model of AVM by introducing the MAP2K1 p.K57N mutation into the ROSA (R26) locus genome. Acti…
View article: 79. Arteriovenous Malformation MAP2K1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro And In-vivo
79. Arteriovenous Malformation MAP2K1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro And In-vivo Open
Purpose: Arteriovenous malformation (AVM) is a fast-flow vascular anomaly characterized by abnormal arterial to venous shunts causing ischemia, ulceration, pain, and bleeding. Extracranial AVMs contain a somatic mutation in the MAP2K1 gene…
View article: Large-scale real-life implementation of technology-enabled care to maximize hospitals' medical surge preparedness during future infectious disease outbreaks and winter seasons: a viewpoint
Large-scale real-life implementation of technology-enabled care to maximize hospitals' medical surge preparedness during future infectious disease outbreaks and winter seasons: a viewpoint Open
Hospitals can be overburdened with large numbers of patients with severe infectious conditions during infectious disease outbreaks. Such outbreaks or epidemics put tremendous pressure on the admission capacity of care facilities in the con…
View article: Arteriovenous malformation Map2k1 mutation affects vasculogenesis
Arteriovenous malformation Map2k1 mutation affects vasculogenesis Open
Somatic activating MAP2K1 mutations in endothelial cells (ECs) cause extracranial arteriovenous malformation (AVM). We previously reported the generation of a mouse line allowing inducible expression of constitutively active MAP2K1 (p.K57N…
View article: 13. Generation of a Conditional Gnaq Mutant Mouse Model of Capillary Malformation
13. Generation of a Conditional Gnaq Mutant Mouse Model of Capillary Malformation Open
PURPOSE: Capillary malformation (CM) is the most common type of vascular malformation. It is a sporadic, non-hereditary lesion caused by a somatic GNAQ-R183Q activating mutation in an endothelial cell (EC). Treatment for CM includes pulsed…
View article: 147. MAP2K1 Mutant Murine Model Recapitulates Human Cutaneous Arteriovenous Malformation
147. MAP2K1 Mutant Murine Model Recapitulates Human Cutaneous Arteriovenous Malformation Open
PURPOSE: Arteriovenous malformation (AVM) is a congenital vascular anomaly caused by somatic activating mutations in MAP2K1 in endothelial cells (ECs). AVMs cause deformity, bleeding, ulceration, pain, and death. We recently generated a co…
View article: MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition
MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition Open
Objectives: Arteriovenous malformation (AVM) is a congenital lesion with a nidus of irregular blood vessels connecting arteries to veins instead of a normal capillary bed. Somatic MAP2K1 activating mutations in endothelial cells cause extr…
View article: Large-scale real-life implementation of technology-enabled care to maximize hospitals’ medical surge preparedness during future infectious disease outbreaks and winter seasons: A viewpoint. (Preprint)
Large-scale real-life implementation of technology-enabled care to maximize hospitals’ medical surge preparedness during future infectious disease outbreaks and winter seasons: A viewpoint. (Preprint) Open
UNSTRUCTURED Hospitals can be overburdened with patients suffering from severe infectious conditions during infectious disease outbreaks. Such outbreaks or epidemics put tremendous pressure on the admission capacity of care facilities in …
View article: 96. Activating MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts
96. Activating MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Open
Purpose: Arteriovenous malformation (AVM) is a sporadic vascular malformation defined by a nidus of irregular blood vessels connecting arteries to veins instead of a normal capillary bed. Somatic activating mutations in MAP2K1 cause extrac…
View article: QS17. Endothelial MAP2K1 Mutation Causes Abnormal Vascular Development in Inducible Mouse Strain
QS17. Endothelial MAP2K1 Mutation Causes Abnormal Vascular Development in Inducible Mouse Strain Open
Purpose: Arteriovenous malformation (AVM) is defined by abnormal connections between arteries and veins instead of a normal capillary bed. Extracranial AVM is caused by an activating MAP2K1 mutation in endothelial cells. The downstream eve…
View article: Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant
Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant Open
Primary lymphedema of the upper extremity is rare and often is associated with syndromic or generalized lymphedema. The purpose of the study was to identify novel causes for primary lymphedema of the arm. A 17-year-old healthy male with ri…
View article: Bockenheimer disease is associated with a <i>TEK</i> variant
Bockenheimer disease is associated with a <i>TEK</i> variant Open
Bockenheimer disease is a venous malformation involving all tissues of an extremity. Patients have significant morbidity, and treatment is palliative. The purpose of this study was to identify the cause of Bockenheimer disease to develop p…
View article: Parkes Weber syndrome with lymphedema caused by a somatic <i>KRAS</i> variant
Parkes Weber syndrome with lymphedema caused by a somatic <i>KRAS</i> variant Open
Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germlin…
View article: <scp><i>EPHB4</i></scp> mutation causes adult and adolescent‐onset primary lymphedema
<span><i>EPHB4</i></span> mutation causes adult and adolescent‐onset primary lymphedema Open
Primary lymphedema results from the anomalous development of the lymphatic system and typically presents during infancy, childhood, or adolescence. Adult‐onset primary lymphedema is rare and mutations associated with this condition have no…
View article: Arteriovenous malformation phenotype resembling congenital hemangioma contains <scp> <i>KRAS</i> </scp> mutations
Arteriovenous malformation phenotype resembling congenital hemangioma contains <span> <i>KRAS</i> </span> mutations Open
Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1 . We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital …
View article: Diffuse capillary malformation with overgrowth contains somatic <i>PIK3CA</i> variants
Diffuse capillary malformation with overgrowth contains somatic <i>PIK3CA</i> variants Open
Diffuse capillary malformation with overgrowth (DCMO) is a clinical diagnosis describing patients with multiple, extensive capillary malformations (CMs) associated with overgrowth and foot anomalies. The purpose of the study was to identif…
View article: Somatic mutations in intracranial arteriovenous malformations
Somatic mutations in intracranial arteriovenous malformations Open
Somatic mutations in KRAS and, less commonly in BRAF, are found in many but not all intracranial AVM samples. Currently, there are no obvious genotype-phenotype correlations that can be used to predict whether a somatic mutation will be de…
View article: S9B-03 SESSION 9B: FACE RESEARCH - PART II SOMATIC ARTERIOVENOUS MALFORMATION MAP2K1 MUTATION CAUSES CARTILAGE OVERGROWTH BY A CELL NON-AUTONOMOUS MECHANISM
S9B-03 SESSION 9B: FACE RESEARCH - PART II SOMATIC ARTERIOVENOUS MALFORMATION MAP2K1 MUTATION CAUSES CARTILAGE OVERGROWTH BY A CELL NON-AUTONOMOUS MECHANISM Open
Introduction: Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that is locally destructive and characterized by abnormal connections between arteries and veins. We previously reported that AVMs contain somatic m…
View article: S9B-04 SESSION 9B: FACE RESEARCH - PART II SOMATIC MAP2K1 MUTATIONS IN ARTERIOVENOUS MALFORMATION CONSTITUTIVELY ACTIVATE THE RAS/MAPK PATHWAY
S9B-04 SESSION 9B: FACE RESEARCH - PART II SOMATIC MAP2K1 MUTATIONS IN ARTERIOVENOUS MALFORMATION CONSTITUTIVELY ACTIVATE THE RAS/MAPK PATHWAY Open
Introduction: Arteriovenous malformation (AVM) is a locally destructive congenital vascular anomaly that enlarges over time. We previously reported that AVMs contain somatic mutations in the MAP2K1 gene, and that the mutation is isolated t…