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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)
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Target
,
Therapeutic Matter
,
Therapeutics
Category(s):
Clinical and Disease Specializations
,
Clinical and Disease Specializations > Genetic Diseases
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Clinical and Disease Specializations > Rare Diseases
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Technology Classifications > Diagnostics > Biomarkers
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Technology Classifications > Therapeutic Modalities > Targets
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Clinical and Disease Specializations > Dermatology
,
Technology Classifications > Diagnostics
,
Technology Classifications > Therapeutic Modalities
,
Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome
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