ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A. - Wikidata - awgldk - TriplyDB

ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.

ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.

http://www.wikidata.org/entity/Q54248766

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Smad-dependent mechanisms of inflammatory bone destruction International physician survey on management of FOP: a modified Delphi study.Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.Osteogenic potential of alpha smooth muscle actin expressing muscle resident progenitor cells.Transforming Growth Factor-β Family Ligands Can Function as Antagonists by Competing for Type II Receptor Binding.Granting immunity to FOP and catching heterotopic ossification in the Act.High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.Concurrent progress of reprogramming and gene correction to overcome therapeutic limitation of mutant ALK2-iPSC.Lymphatic Contribution to the Cellular Niche in Heterotopic Ossification The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling BMP-SMAD-ID promotes reprogramming to pluripotency by inhibiting p16/INK4A-dependent senescence.Matters of context guide future research in TGFβ superfamily signaling.BMP signalling in skeletal development, disease and repair.Signaling pathways regulating cartilage growth plate formation and activity.Signaling Receptors for TGF-β Family Members.Structural Basis of Intracellular TGF-β Signaling: Receptors and Smads.Analog Method for Radiographic Assessment of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva.Targeting TGF-β Signaling for Therapeutic Gain.TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Conserved signaling pathways underlying heterotopic ossification.Application of human induced pluripotent stem cells to model fibrodysplasia ossificans progressiva.Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.BMP9 a possible alternative drug for the recently withdrawn BMP7? New perspectives for (re-)implementation by personalized medicine.Effectiveness and mode of action of a combination therapy for heterotopic ossification with a retinoid agonist and an anti-inflammatory agent.Two tissue-resident progenitor lineages drive distinct phenotypes of heterotopic ossification.Cellular Hypoxia Promotes Heterotopic Ossification by Amplifying BMP Signaling.Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation Tendon mineralization is progressive and associated with deterioration of tendon biomechanical properties, and requires BMP-Smad signaling in the mouse Achilles tendon injury model Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation.Induced Pluripotent Stem Cells to Model Human Fibrodysplasia Ossificans Progressiva.Towards a cure for Fibrodysplasia ossificans progressiva.Combinatorial Signal Perception in the BMP Pathway.Tumor-Suppressor Inactivation of GDF11 Occurs by Precursor Sequestration in Triple-Negative Breast Cancer.A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.Fibrodysplasia ossificans progressiva: Basic understanding and experimental models.The TGFβ superfamily in Lisbon: navigating through development and disease.Drugs for rare disorders.Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP).Variable signaling activity by FOP ACVR1 mutations.

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ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.

http://www.wikidata.org/entity/Q54248766

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2015 nî lūn-bûn

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2015年學術文章

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name

ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

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ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

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type

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ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

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ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

@nl

prefLabel

ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

@en

ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

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SCITRANSLMED.AAC4358

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Science Translational Medicine

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ACVR1R206H receptor mutation c ...... g responsiveness to activin A.

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Christopher J Schoenherr

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Dana M Alessi Wolken

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David D'Ambrosio

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Genevieve Makhoul

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George D Yancopoulos

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Hyon J Kim

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Johanna Jimenez

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Kalyan C Nannuru

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Kieran Feeley

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Lili Wang

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Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors

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

BMP type I receptor inhibition reduces heterotopic [corrected] ossification

Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva

High-throughput engineering of the mouse genome coupled with high-resolution expression analysis

Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2

Conditionals by inversion provide a universal method for the generation of conditional alleles

A new logic for DNA engineering using recombination in Escherichia coli

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.

F0 generation mice fully derived from gene-targeted embryonic stem cells allowing immediate phenotypic analyses.

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7

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Aris Economides

Andrew J Murphy

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2015-09-01T00:00:00Z

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26333933

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fibrodysplasia ossificans progressiva

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6164166

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