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Search Results - jonathan+pevsner
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Activating Mutations in GNAQ Sensitive to Antibiotic; Novel Molecular Pathway and Treatment Target for Capillary Malformations and Related Syndromes
Value Proposition: · Antibiotic treatment strategy for capillary malformations and Sturge-Weber Syndrome. · Selectively targets endothelial cells with the pathogenic GNAQ mutations using puromycin · Inhibits cell proliferation and reduces cell survival via activation of TRP6/NFAT signaling pathway · Compatible with various drug...
Published: 3/13/2025
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Inventor(s):
Anne Comi
,
Jonathan Pevsner
,
Zhenhua Huang
,
Douglas Marchuk
Keywords(s):
Biomarker
,
Disease Indication
,
Genetic Disorders
,
Mechanism-of-action Biomarker
,
Skin Disorders
,
Sturge-Weber Syndrome
,
Sturge-Weber Syndrome (SWS)
,
Target
,
Therapeutic Matter
,
Therapeutics
Category(s):
Clinical and Disease Specializations
,
Clinical and Disease Specializations > Genetic Diseases
,
Clinical and Disease Specializations > Rare Diseases
,
Technology Classifications > Diagnostics > Biomarkers
,
Technology Classifications > Therapeutic Modalities > Targets
,
Clinical and Disease Specializations > Dermatology
,
Technology Classifications > Diagnostics
,
Technology Classifications > Therapeutic Modalities
,
Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome
Diagnostic Test for Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome, and Port-Wine Stains (PWSs) Based on Analysis of Gene Mutations and Biological Consequences of the Mutation
Value Proposition:Sturge-Weber syndrome (SWS) is a neurovascular disorder that is often associated with a capillary malformation of the face called a port-wine stain (PWS). SWS is phenotypically related to Klippel-Trenaunay-Weber syndrome (KTWS) which is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy...
Published: 3/13/2025
|
Inventor(s):
Douglas Marchuk
,
Jonathan Pevsner
,
Anne Comi
,
Matthew Shirley
Keywords(s):
Assay
,
Clinical Diagnostics
,
Disease Indication
,
In Vitro Diagnostics
,
Klippel-Trenaunay-Weber Syndrome
,
Port-Wine Stain
,
Skin Disorders
,
Sturge-Weber Syndrome
,
Sturge-Weber Syndrome (SWS)
Category(s):
Clinical and Disease Specializations
,
Clinical and Disease Specializations > Dermatology
,
Clinical and Disease Specializations > Dermatology > Port-Wine Stain
,
Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome
,
Clinical and Disease Specializations > Genetic Diseases
,
Clinical and Disease Specializations > Genetic Diseases > Klippel-Trenaunay-Weber Syndrome
,
Clinical and Disease Specializations > Rare Diseases
,
Technology Classifications > Diagnostics > In Vitro Diagnostics
,
Technology Classifications > Research Tools > Assays
,
Technology Classifications > Diagnostics
,
Technology Classifications > Research Tools
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