The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression

• Main Authors: Dan Wu (Author), Sailan Wang (Author), Daniel V. Oliveira (Author), Francesca Del Gaudio (Author), Michael Vanlandewijck (Author), Thibaud Lebouvier (Author), Christer Betsholtz (Author), Jian Zhao (Author), ShaoBo Jin (Author), Urban Lendahl (Author), Helena Karlström (Author)
• Format: Book
• Published: The Company of Biologists, 2021-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Infantile myofibromatosis (IMF) is a benign tumor form characterized by the development of nonmetastatic tumors in skin, bone, muscle and sometimes viscera. Autosomal-dominant forms of IMF are caused by mutations in the PDGFRB gene, but a family carrying a L1519P mutation in the NOTCH3 gene has also...