DOAJ Open Access 2018

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

Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer +28 lainnya

Abstrak

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.

Topik & Kata Kunci

Penulis (33)

F

Fresia Pareja

A

Alissa H. Brandes

T

Thais Basili

P

Pier Selenica

F

Felipe C. Geyer

D

Dan Fan

A

Arnaud Da Cruz Paula

R

Rahul Kumar

D

David N. Brown

R

Rodrigo Gularte-Mérida

B

Barbara Alemar

R

Rui Bi

R

Raymond S. Lim

I

Ino de Bruijn

S

Sho Fujisawa

R

Rui Gardner

E

Elvin Feng

A

Anqi Li

E

Edaise M. da Silva

J

John R. Lozada

P

Pedro Blecua

L

Leona Cohen-Gould

A

Achim A. Jungbluth

E

Emad A. Rakha

I

Ian O. Ellis

M

Maria I. A. Edelweiss

J

Juan Palazzo

L

Larry Norton

T

Travis Hollmann

M

Marcia Edelweiss

B

Brian P. Rubin

B

Britta Weigelt

J

Jorge S. Reis-Filho

Format Sitasi

Pareja, F., Brandes, A.H., Basili, T., Selenica, P., Geyer, F.C., Fan, D. et al. (2018). Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. https://doi.org/10.1038/s41467-018-05886-y

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Informasi Jurnal
Tahun Terbit
2018
Sumber Database
DOAJ
DOI
10.1038/s41467-018-05886-y
Akses
Open Access ✓