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Activating Mutations in GNAQ Sensitive to Antibiotic; Novel Molecular Pathway and Treatment Target for Capillary Malformations and Related Syndromes
An unexpected observation while working on developing cell models for these vascular abnormalities generated the following idea: Cells with the capillary malformation/ Sturge-Weber syndrome mutation may be more sensitive to an antibiotic than normal cells. This suggests a particular cell molecular pathway may be signaling abnormally in these cells...
Published: 6/27/2024
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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 > Dermatology > Sturge-Weber Syndrome
,
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
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