TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

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 p...

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Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2018
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Science
Q
Accès en ligne:https://doaj.org/article/e7587955769c46cb9c57d9d348d2db3d
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https://doaj.org/article/e7587955769c46cb9c57d9d348d2db3d

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