Compositions and methods for detecting Noonan syndrome
Abstract
Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.
- Inventors:
-
- New York, NY
- Rome, IT
- Walnut Creek, CA
- Issue Date:
- Research Org.:
- Lawrence Livermore National Laboratory (LLNL), Livermore, CA (United States)
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 1068839
- Patent Number(s):
- 8221979
- Application Number:
- 12/443,752
- Assignee:
- Mount Sinai School of Medicine (New York, NY); The Regents of the University of California (Oakland, CA)
- Patent Classifications (CPCs):
-
C - CHEMISTRY C12 - BIOCHEMISTRY C12Q - MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
G - PHYSICS G01 - MEASURING G01N - INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- DOE Contract Number:
- AC52-07NA27344
- Resource Type:
- Patent
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 60 APPLIED LIFE SCIENCES
Citation Formats
Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States: N. p., 2012.
Web.
Gelb, Bruce D, Tartaglia, Marco, & Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States.
Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Tue .
"Compositions and methods for detecting Noonan syndrome". United States. https://www.osti.gov/servlets/purl/1068839.
@article{osti_1068839,
title = {Compositions and methods for detecting Noonan syndrome},
author = {Gelb, Bruce D and Tartaglia, Marco and Pennacchio, Len},
abstractNote = {Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.},
doi = {},
journal = {},
number = ,
volume = ,
place = {United States},
year = {Tue Jul 17 00:00:00 EDT 2012},
month = {Tue Jul 17 00:00:00 EDT 2012}
}
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