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Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

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Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pnas_primary_112_50_15438

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

About this item

Full title

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

Author / Creator

Hino, Kyosuke , Ikeya, Makoto , Horigome, Kazuhiko , Matsumoto, Yoshihisa , Ebise, Hayao , Nishio, Megumi , Sekiguchi, Kazuya , Shibata, Mitsuaki , Nagata, Sanae , Matsud, Shuichi and Toguchida, Junya

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (50), p.15438-15443

Language

English

Formats

Articles

Publication information

Publisher

United States: National Academy of Sciences

Subjects

More information

Scope and Contents

Contents

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by extraskeletal bone formation through endochondral ossification. FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP). Two mechanisms of mutated ACVR1 (FOP-ACVR1) have been proposed: ligand-indep...

Alternative Titles

Full title

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pnas_primary_112_50_15438

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pnas_primary_112_50_15438

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.1510540112

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