Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva. (Q33991272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463014%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

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

1 reference

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fibrodysplasia ossificans progressiva

2 February 2020

main subject

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author

Kyung Mi Woo

3

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2 February 2020

author name string

Gin-Ah Song

1

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2 February 2020

Hyun-Jung Kim

2

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2 February 2020

Jeong-Hwa Baek

4

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2 February 2020

Gwan-Shik Kim

5

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2 February 2020

Jin-Young Choi

6

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2 February 2020

Hyun-Mo Ryoo

7

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2 February 2020

language of work or name

English

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publication date

12 May 2010

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Journal of Biological Chemistry

2 February 2020

published in

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2 February 2020

volume

285

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2 February 2020

page(s)

22542-22553

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2 February 2020

issue

29

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ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation

2 February 2020

cites work

1 reference

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The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

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

5 July 2018

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

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Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

5 July 2018

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Dysregulated BMP signaling and enhanced osteogenic differentiation of connective tissue progenitor cells from patients with fibrodysplasia ossificans progressiva (FOP).

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Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling

5 July 2018

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

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Critical molecular switches involved in BMP-2-induced osteogenic differentiation of mesenchymal cells

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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FKBP12, the 12-kDa FK506-binding protein, is a physiologic regulator of the cell cycle

5 July 2018

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5 July 2018

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Runx2 is a common target of transforming growth factor beta1 and bone morphogenetic protein 2, and cooperation between Runx2 and Smad5 induces osteoblast-specific gene expression in the pluripotent mesenchymal precursor cell line C2C12.

5 July 2018

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5 July 2018

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5 July 2018

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The type I serine/threonine kinase receptor ActRIA (ALK2) is required for gastrulation of the mouse embryo

5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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Mechanism of TGFbeta receptor inhibition by FKBP12

5 July 2018

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5 July 2018

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Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva

5 July 2018

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A three generation family with fibrodysplasia ossificans progressiva

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Proline isomerases at the crossroads of protein folding, signal transduction, and immunosuppression

5 July 2018

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Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva

5 July 2018

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The immunophilin FKBP12 functions as a common inhibitor of the TGF beta family type I receptors.

21 January 2018

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Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

21 January 2018

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21 January 2018

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ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

21 January 2018

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Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA.

21 January 2018

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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

21 January 2018

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

21 January 2018

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FKBP12 is a negative regulator of transforming growth factor-beta receptor internalization

29 October 2018

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12 December 2020

FK-506, a potent novel immunosuppressive agent, binds to a cytosolic protein which is distinct from the cyclosporin A-binding protein, cyclophilin

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12 December 2020

The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients

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Selective binding of FKBP12.6 by the cardiac ryanodine receptor

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12 December 2020

Identifiers

DOI

10.1074/JBC.M109.094557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463014%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20463014%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference