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

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Wen Hwa Lee

2

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Matthew A. Brown

object named as

Matthew A Brown

7

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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

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26 July 2017

Jenny J Pointon

4

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26 July 2017

Roger Smith

5

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26 July 2017

R Graham G Russell

6

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26 July 2017

James T Triffitt

9

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26 July 2017

language of work or name

English

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publication date

30 March 2009

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26 July 2017

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26 July 2017

volume

4

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26 July 2017

issue

3

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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

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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/JOURNAL.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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