(Q30373949)

English

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

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scholarly article

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Europe PubMed Central

PMC publication ID

1 November 2017

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

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1 November 2017

fibrodysplasia ossificans progressiva

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inferred from title

Gabriele Gillessen-Kaesbach

10

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Stefan Mundlos

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1 November 2017

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Petra Seemann

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author name string

Frederick S Kaplan

1

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1 November 2017

Meiqi Xu

2

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1 November 2017

J Michael Connor

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1 November 2017

David L Glaser

5

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1 November 2017

Liam Carroll

6

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1 November 2017

Patricia Delai

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1 November 2017

Elisabeth Fastnacht-Urban

8

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1 November 2017

Stephen J Forman

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1 November 2017

Julie Hoover-Fong

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1 November 2017

Bernhard Köster

12

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1 November 2017

Richard M Pauli

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1 November 2017

William Reardon

14

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1 November 2017

Syed-Adeel Zaidi

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1 November 2017

Michael Zasloff

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1 November 2017

Rolf Morhart

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1 November 2017

Jay Groppe

19

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1 November 2017

Eileen M Shore

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1 November 2017

publication date

1 March 2009

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1 November 2017

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1 November 2017

30

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3

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1 November 2017

379-390

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1 November 2017

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

1 reference

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Cyclic dermal BMP signalling regulates stem cell activation during hair regeneration

1 reference

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Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism

1 reference

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

1 reference

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Morphogen receptor genes and metamorphogenes: skeleton keys to metamorphosis

1 reference

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The role of bone morphogenetic proteins in articular cartilage development, homeostasis and repair.

1 reference

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Bone morphogenetic proteins and their receptors in the eye.

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Endocrine regulation of energy metabolism by the skeleton

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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Loss of a quiescent niche but not follicle stem cells in the absence of bone morphogenetic protein signaling

1 reference

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Bone morphogenetic protein signaling in stem cells--one signal, many consequences

1 reference

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20 June 2018

HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells

1 reference

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20 June 2018

A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton

1 reference

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20 June 2018

Noggin regulates Bmp4 activity during pituitary induction

1 reference

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20 June 2018

BMP4 and PTHrP interact to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction

1 reference

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20 June 2018

Bone morphogenetic proteins and their antagonists

1 reference

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TGF-beta superfamily members and ovarian follicle development

1 reference

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20 June 2018

Dysregulation of the BMP-4 signaling pathway in fibrodysplasia ossificans progressiva

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

GDF5 is a second locus for multiple-synostosis syndrome.

1 reference

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20 June 2018

Smad transcription factors

1 reference

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20 June 2018

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

1 reference

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20 June 2018

Bone morphogenetic proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

BMP signaling in the control of skin development and hair follicle growth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

Transgenic mice overexpressing BMP4 develop a fibrodysplasia ossificans progressiva (FOP)-like phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

ALK2 functions as a BMP type I receptor and induces Indian hedgehog in chondrocytes during skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia

1 reference

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20 June 2018

Paresis of a bone morphogenetic protein-antagonist response in a genetic disorder of heterotopic skeletogenesis.

1 reference

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Bone morphogenetic proteins and their antagonists in skin and hair follicle biology.

1 reference

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Signaling by bone morphogenetic proteins and Smad1 modulates the postnatal differentiation of cerebellar cells

1 reference

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Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues

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The conformational plasticity of protein kinases

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The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.

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

1 reference

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Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors

1 reference

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The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb

1 reference

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Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity

1 reference

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Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

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

1 reference

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Bone: formation by autoinduction

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Novel regulators of bone formation: molecular clones and activities

1 reference

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20 June 2018

Fibrodysplasia ossificans progressiva: a clue from the fly?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

20 June 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

21 January 2018

Genetic analyses demonstrate that bone morphogenetic protein signaling is required for embryonic cerebellar development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

21 January 2018

Protein builds second skeleton.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

21 January 2018

Function of BMPs in the apical ectoderm of the developing mouse limb

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20868

21 January 2018

The genetic basis of tooth development and dental defects.

1 reference

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26 November 2018

In vivo somatic cell gene transfer of an engineered Noggin mutein prevents BMP4-induced heterotopic ossification

1 reference

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26 November 2018

Age- and joint-specific risk of initial heterotopic ossification in patients who have fibrodysplasia ossificans progressiva.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921861

26 November 2018

Polyostotic fibrous dysplasia and myositis ossificans progressiva. A report of coexistence

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrodysplasia ossificans progressiva

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of bone morphogenetic proteins (BMPs), their receptors, and activins in normal and scarred conjunctiva: role of BMP-6 and activin-A in conjunctival scarring?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hematopoietic stem-cell contribution to ectopic skeletogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional modeling of the ACVR1 (R206H) mutation in FOP

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19085907

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.20868

1 reference

Europe PubMed Central

PMC publication ID

1 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 November 2017

ResearchGate publication ID

0 references

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