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ACVR1 mutations in DIPG: lessons learned from FOP.

Abstract:

Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone. This une...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
Publisher:
American Association for Cancer Research Inc.
Journal:
Cancer research
Volume:
74
Issue:
17
Pages:
4565-4570
Publication date:
2014-09-01
DOI:
EISSN:
1538-7445
ISSN:
0008-5472
Source identifiers:
481387
Language:
English
Pubs id:
pubs:481387
UUID:
uuid:0c56360b-3085-4181-aea6-9b0d5ad097e4
Local pid:
pubs:481387
Deposit date:
2014-08-27

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