Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1. (Q54546270)

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English	Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1. (English)

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

fibrodysplasia ossificans progressiva

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Michael P. Whyte

1

object named as

Michael P Whyte

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

6

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Steven Mumm

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Europe PubMed Central

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31 May 2018

http://europepmc.org/abstract/MED/22131272

author name string

Deborah Wenkert

2

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

Jennifer L Demertzis

3

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

Edward F DiCarlo

4

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Europe PubMed Central

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31 May 2018

http://europepmc.org/abstract/MED/22131272

Erica Westenberg

5

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31 May 2018

http://europepmc.org/abstract/MED/22131272

publication date

1 March 2012

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31 May 2018

http://europepmc.org/abstract/MED/22131272

Journal of Bone and Mineral Research

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31 May 2018

http://europepmc.org/abstract/MED/22131272

27

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PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

3

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PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

729-737

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Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

Fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Osteochondral diseases and fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Bone morphogenetic protein 2/4 in early fibromatous lesions of fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Role of Altered Signal Transduction in Heterotopic Ossification and Fibrodysplasia Ossificans Progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Late‐onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

A three generation family with fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H

1 reference

https://api.crossref.org/works/10.1002/JBMR.1473

21 January 2018

Identifiers

10.1002/JBMR.1473

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/22131272

ResearchGate publication ID

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