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Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
- Source :
- Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
- Publication Year :
- 2018
- Publisher :
- Nature Portfolio, 2018.
-
Abstract
- 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.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 9
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.009968388daa46a8b838d3017e34238c
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-018-05886-y