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COMPOSITIONS AND METHODS FOR SCREENING AND TREATMENT OF STURGE-WEBER SYNDROME, KLIPPEL-TRENAUNAY-WEBER SYNDROME, AND PORT-WINE STAINS (PWSS)
专利权人:
发明人:
Anne M. Comi,Jonathan Pevsner,Douglas Marchuk
申请号:
US14271739
公开号:
US20140336138A1
申请日:
2014.05.07
申请国别(地区):
US
年份:
2014
代理人:
摘要:
Compositions and methods for treatment of Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome, Port-Wine Stains and related neurocutaneous disorders are provided. Cell lines having the somatic mutation GNAQ p.Arg183Gln amino acid substitution, which was found to be the cause of port-wine stains (prevalence 1 in 300) and Sturge-Weber syndrome are also provided. Compositions and methods for treatment of uveal melanoma are also provided herein. Methods of screening novel compounds and compositions useful in increasing RGS2 and/or RGS4 expression and function in vitro, and for treatment of Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome, Port-Wine Stains and related neurocutaneous disorders are provided are also provided.
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