TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw
| Autor: | Carolina Cavalieri Gomes, Tenzin Gayden, Andrea Bajic, Osama F. Harraz, Jonathan Pratt, Hamid Nikbakht, Eric Bareke, Marina Gonçalves Diniz, Wagner Henriques Castro, Pascal St-Onge, Daniel Sinnett, HyeRim Han, Barbara Rivera, Leonie G. Mikael, Nicolas De Jay, Claudia L. Kleinman, Elvis Terci Valera, Angelia V. Bassenden, Albert M. Berghuis, Jacek Majewski, Mark T. Nelson, Ricardo Santiago Gomez, Nada Jabado |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2041-1723 75879557 |
| DOI: | 10.1038/s41467-018-06690-4 |
| Popis: | Giant cell lesions of the jaw (GCLJ) are debilitating benign tumors of unclear origin. The authors identify driver recurrent somatic mutations in TRPV4, KRAS and FGFR1 and show they converge on aberrant activation of the MAPK pathway. Their findings extend the spectrum of TRPV4 channelopathies and provide rationale for targeted therapies at the bedside in GCLJ. |
| Databáze: | Directory of Open Access Journals |
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