Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes...

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Autores principales:	Fresia Pareja, Alissa H. Brandes, Thais Basili, Pier Selenica, Felipe C. Geyer, Dan Fan, Arnaud Da Cruz Paula, Rahul Kumar, David N. Brown, Rodrigo Gularte-Mérida, Barbara Alemar, Rui Bi, Raymond S. Lim, Ino de Bruijn, Sho Fujisawa, Rui Gardner, Elvin Feng, Anqi Li, Edaise M. da Silva, John R. Lozada, Pedro Blecua, Leona Cohen-Gould, Achim A. Jungbluth, Emad A. Rakha, Ian O. Ellis, Maria I. A. Edelweiss, Juan Palazzo, Larry Norton, Travis Hollmann, Marcia Edelweiss, Brian P. Rubin, Britta Weigelt, Jorge S. Reis-Filho
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/009968388daa46a8b838d3017e34238c
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spelling	oai:doaj.org-article:009968388daa46a8b838d3017e34238c2021-12-02T17:31:44ZLoss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors10.1038/s41467-018-05886-y2041-1723https://doaj.org/article/009968388daa46a8b838d3017e34238c2018-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-05886-yhttps://doaj.org/toc/2041-1723Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.Fresia ParejaAlissa H. BrandesThais BasiliPier SelenicaFelipe C. GeyerDan FanArnaud Da Cruz PaulaRahul KumarDavid N. BrownRodrigo Gularte-MéridaBarbara AlemarRui BiRaymond S. LimIno de BruijnSho FujisawaRui GardnerElvin FengAnqi LiEdaise M. da SilvaJohn R. LozadaPedro BlecuaLeona Cohen-GouldAchim A. JungbluthEmad A. RakhaIan O. EllisMaria I. A. EdelweissJuan PalazzoLarry NortonTravis HollmannMarcia EdelweissBrian P. RubinBritta WeigeltJorge S. Reis-FilhoNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
description	Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.
format	article
author	Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho
author_facet	Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho
author_sort	Fresia Pareja
title	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_short	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_full	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_fullStr	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_full_unstemmed	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_sort	loss-of-function mutations in atp6ap1 and atp6ap2 in granular cell tumors
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/009968388daa46a8b838d3017e34238c
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Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

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