Article
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Neuro-oncology - 8 Dec 2023
Williams Erik A, Ravindranathan Ajay, Gupta Rohit, Stevers Nicholas O, Suwala Abigail K, Hong Chibo, Kim Somang, Yuan Jimmy Bo, Wu Jasper, Barreto Jairo, Lucas Calixto-Hope G, Chan Emily, Pekmezci Melike, LeBoit Philip E, Mully Thaddeus, Perry Arie, Bollen Andrew, Van Ziffle Jessica, Devine W Patrick, Reddy Alyssa T, Gupta Nalin, Basnet Kristen M, Macaulay Robert J B, Malafronte Patrick, Lee Han, Yong William H, Williams Kevin Jon, Juratli Tareq A, Mata Douglas A, Huang Richard S P, Hiemenz Matthew C, Pavlick Dean C, Frampton Garrett M, Janovitz Tyler, Ross Jeffrey S, Chang Susan M, Berger Mitchel S, Jacques Line, Song Jun S, Costello Joseph F, Solomon David A
Abstract excerpt
BACKGROUND: Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are primarily thought to arise due to aberrant hyperactivation of the RAS growth factor signaling pathway. Here, we sought to further define the molecular pathogenesis of schwannomas....
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