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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
O O- O0 O1 O2 O3 OA OB OC OD OE OF OG OH OI OJ OK OL OM ON OO OP OR OS OT OU OV OW OX OY OZ
ON# ONA ONC OND ONE ONF ONH ONI ONL ONO ONR ONS ONT ONY

Oncogene SIS

[Human Oncogene SIS is a mutated variant of PDGFB Gene (PDGF/VEGF Family), which encodes 2 alternative isoforms of 241-aa 27-kDa (precursor) Platelet-Derived Growth Factor-Beta Chain, a potent mitogenic factor for mesenchymal cells characterized by a motif of eight cysteines and released by platelets upon wounding to stimulate adjacent cell growth; PDGF activates a RAS/PIK3/AKT1/IKK/NFKB1 pathway. PDGFB can exist as a disulfide-linked homodimer or heterodimer with Platelet-Derived Growth Factor Alpha. AA, BB, and AB, dimers bind to PDGF receptor and elicit a variety of cellular responses. A and B homodimers are implicated in transformation. PDGFB mutations are associated with meningioma. Reciprocal t(17;22)(q22;q13) translocations with COL1A1 result in unregulated growth factor expression and are associated with DFSP. Oncogene SIS disrupts normal cell function. ( NCI )]
UMLS (NCI) C0037207
 
Gene or Genome

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