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 AND SRC:MED&resulttype=core&format=json

2 February 2020

title

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

1 reference

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

fibrodysplasia ossificans progressiva

2 February 2020

main subject

0 references

author

Kyung Mi Woo

3

1 reference

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

2 February 2020

author name string

Gin-Ah Song

1

1 reference

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

2 February 2020

Hyun-Jung Kim

2

1 reference

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

2 February 2020

Jeong-Hwa Baek

4

1 reference

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

2 February 2020

Gwan-Shik Kim

5

1 reference

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

2 February 2020

Jin-Young Choi

6

1 reference

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

2 February 2020

Hyun-Mo Ryoo

7

1 reference

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

2 February 2020

language of work or name

English

0 references

publication date

12 May 2010

1 reference

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

Journal of Biological Chemistry

2 February 2020

published in

1 reference

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

2 February 2020

volume

285

1 reference

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

2 February 2020

issue

29

1 reference

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

2 February 2020

page(s)

22542-22553

1 reference

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

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

FKBP12.6-knockout mice display hyperinsulinemia and resistance to high-fat diet-induced hyperglycemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Molecular regulation of matrix extracellular phosphoglycoprotein expression by bone morphogenetic protein-2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Dominant-negative ALK2 allele associates with congenital heart defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

BMP type I receptor inhibition reduces heterotopic [corrected] ossification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Early diagnosis of fibrodysplasia ossificans progressiva

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

BMP-2/4 and BMP-6/7 differentially utilize cell surface receptors to induce osteoblastic differentiation of human bone marrow-derived mesenchymal stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Hypoxic adipocytes pattern early heterotopic bone formation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Cell biology of membrane trafficking in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Regulation of osteoblast differentiation by transcription factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

In smooth muscle, FK506-binding protein modulates IP3 receptor-evoked Ca2 release by mTOR and calcineurin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Regulation of NMDA receptor trafficking by amyloid-beta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Dynamics and interaction of caveolin-1 isoforms with BMP-receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

BMP signaling through ACVRI is required for left-right patterning in the early mouse embryo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Bone morphogenetic protein-2-induced alkaline phosphatase expression is stimulated by Dlx5 and repressed by Msx2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

BMP signaling mediated by ALK2 in the visceral endoderm is necessary for the generation of primordial germ cells in the mouse embryo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Smad-dependent and Smad-independent pathways in TGF-beta family signalling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

BMP-2-induced Runx2 expression is mediated by Dlx5, and TGF-beta 1 opposes the BMP-2-induced osteoblast differentiation by suppression of Dlx5 expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

ER-associated degradation in protein quality control and cellular regulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

The endocytic pathway: a mosaic of domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Receptor accessory folding helper enzymes: the functional role of peptidyl prolyl cis/trans isomerases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Intracellular functions of N-linked glycans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Traffic jam: a compendium of human diseases that affect intracellular transport processes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Reciprocal regulation of osteocalcin transcription by the homeodomain proteins Msx2 and Dlx5.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

The caveolae membrane system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Stage-specific expression of Dlx-5 during osteoblast differentiation: involvement in regulation of osteocalcin gene expression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Mechanism of TGFβ receptor inhibition by FKBP12

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Bone morphogenetic proteins in development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

A three generation family with fibrodysplasia ossificans progressiva

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Characterization and cloning of a receptor for BMP-2 and BMP-4 from NIH 3T3 cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Immunophilins in protein folding and immunosuppression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2903413

Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva

5 July 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M109.094557

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=2903413

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

29 October 2018

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Selective binding of FKBP12.6 by the cardiac ryanodine receptor

1 reference

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 AND SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

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

2 February 2020

PubMed publication ID

20463014

1 reference