(Q33423849)

26 July 2017

title

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients (English)

1 reference

fibrodysplasia ossificans progressiva

26 July 2017

main subject

0 references

Wen Hwa Lee

2

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Matthew A. Brown

object named as

Matthew A Brown

7

0 references

Paul Wordsworth

8

object named as

B Paul Wordsworth

1 reference

26 July 2017

Kirsten A Petrie

1

1 reference

26 July 2017

Alex N Bullock

3

1 reference

26 July 2017

Jenny J Pointon

4

1 reference

26 July 2017

Roger Smith

5

1 reference

26 July 2017

R Graham G Russell

6

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26 July 2017

James T Triffitt

9

1 reference

26 July 2017

language of work or name

English

0 references

publication date

30 March 2009

1 reference

26 July 2017

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26 July 2017

volume

4

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26 July 2017

issue

3

1 reference

26 July 2017

page(s)

e5005

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Creative Commons Attribution 4.0 International

26 July 2017

copyright license

start time

30 March 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

BMP type I receptor inhibition reduces heterotopic [corrected] ossification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

The TGF beta receptor activation process: an inhibitor- to substrate-binding switch

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

ICM?A new method for protein modeling and design: Applications to docking and structure prediction from the distorted native conformation

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005005

Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658887

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

31 October 2018

1 reference

12 December 2020

Functional modeling of the ACVR1 (R206H) mutation in FOP

1 reference

12 December 2020

A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

1 reference

12 December 2020

The cervical spine in fibrodysplasia ossificans progressiva

1 reference

12 December 2020

49th ENMC-Sponsored International Workshop: fibrodysplasia (myositis) ossificans progressiva (FOP). 14-16 February 1997, Naarden, The Netherlands

1 reference

12 December 2020

De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0005005

Identifiers

DOI

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26 July 2017

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26 July 2017

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