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Author Details

Eileen M Shore
University of Pennsylvania, Perelman School of Medicine
1984
171
52
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37329499Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.J Bone Miner Res2023
37509165Polypeptide Substrate Accessibility Hypothesis: Gain-of-Function R206H Mutation Allosterically Affects Activin Receptor-like Protein Kinase Activity.Biomolecules2023
37218523Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1).Am J Med Genet A2023
34133058BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).Dev Dyn2022
36258013Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery.Nat Commun2022
36153796Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1<sup>R206H</sup> -Specific Human Cellular and Zebrafish Models.J Bone Miner Res2022
34854557An ACVR1<sup>R375P</sup> pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.Am J Med Genet A2022
35031614Dynamics of skeletal muscle-resident stem cells during myogenesis in fibrodysplasia ossificans progressiva.NPJ Regen Med2022
34695616Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I dogs.Bone2022
33217406Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).Dev Biol2021
33574833<i>Gnas</i> Inactivation Alters Subcutaneous Tissues in Progression to Heterotopic Ossification.Front Genet2021
34003511Pathogenic ACVR1<sup>R206H</sup> activation by Activin A-induced receptor clustering and autophosphorylation.EMBO J2021
33973349Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1<sup>G328E</sup> variant.Am J Med Genet A2021
32897189Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish.Elife2020
31655222Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva.Bone2020
33364240The Developmental Phenotype of the Great Toe in Fibrodysplasia Ossificans Progressiva.Front Cell Dev Biol2020
32730934Fibrodysplasia ossificans progressiva (FOP): A disorder of osteochondrogenesis.Bone2020
32756064Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.Horm Res Paediatr2020
30698141Comment on 'Palovarotene reduces heterotopic ossification in juvenile FOP mice but exhibits pronounced skeletal toxicity'.Elife2019
31442675Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII.Bone2019
31485556JBMRPlus: Special Issue on Rare Bone Diseases 2019.JBMR Plus2019
31250694Differential Vascularity in Genetic and Nonhereditary Heterotopic Ossification.Int J Surg Pathol2019
31012264Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.Am J Med Genet A2019
31007133Identification of the Identical Human Mutation in <i>ACVR1</i> in 2 Cats With Fibrodysplasia Ossificans Progressiva.Vet Pathol2019
31107558Elevated BMP and Mechanical Signaling Through YAP1/RhoA Poises FOP Mesenchymal Progenitors for Osteogenesis.J Bone Miner Res2019
30379592ACVR1<sup>R206H</sup> FOP mutation alters mechanosensing and tissue stiffness during heterotopic ossification.Mol Biol Cell2019
30414138Heterotopic Ossification in Mouse Models of Fibrodysplasia Ossificans Progressiva.Methods Mol Biol2019
29194751Reply to: Macrophages Driving Heterotopic Ossification: Convergence of Genetically-Driven and Trauma-Driven Mechanisms.J Bone Miner Res2018
29959430Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nat Rev Endocrinol2018
29567209Heterotopic Ossification: The Keys to the Kingdom.Bone2018
29183785Ablation of Gsα signaling in osteoclast progenitor cells adversely affects skeletal bone maintenance.Bone2018
29307777Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.Bone2018
28986986Depletion of Mast Cells and Macrophages Impairs Heterotopic Ossification in an Acvr1<sup>R206H</sup> Mouse Model of Fibrodysplasia Ossificans Progressiva.J Bone Miner Res2018
29170109Activin A amplifies dysregulated BMP signaling and induces chondro-osseous differentiation of primary connective tissue progenitor cells in patients with fibrodysplasia ossificans progressiva (FOP).Bone2018
29097342Variable signaling activity by FOP ACVR1 mutations.Bone2018
29320714A case report of mesenteric heterotopic ossification: Histopathologic and genetic findings.Bone2018
27989444Analog Method for Radiographic Assessment of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva.Acad Radiol2017
28338087Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.Sci Rep2017
28246187TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.Cold Spring Harb Perspect Biol2017
28473268The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.Eur J Med Genet2017
29177121Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP).Expert Opin Orphan Drugs2017
28602725IL15RA is required for osteoblast function and bone mineralization.Bone2017
27025942The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment.J Bone Miner Res2016
27492611ACVR1-Fc suppresses BMP signaling and chondro-osseous differentiation in an in vitro model of Fibrodysplasia ossificans progressiva.Bone2016
26776312Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.Cytokine Growth Factor Rev2016
26706149Granting immunity to FOP and catching heterotopic ossification in the Act.Semin Cell Dev Biol2016
27027798Cellular Hypoxia Promotes Heterotopic Ossification by Amplifying BMP Signaling.J Bone Miner Res2016
26896819Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation.J Bone Miner Res2016
25604857Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.Eur J Hum Genet2015
26422116Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.Mol Genet Metab2015
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Collaborators

Frederick S Kaplan
Perelman School of Medicine, the University of Pennsylvania
Co-authored papers 131
Meiqi Xu
The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 26
David L Glaser
University of Pennsylvania
Co-authored papers 19
Michael Zasloff
Enterin Research Institute Inc.
Co-authored papers 18
J M Connor
Duncan Guthrie Institute of Medical Genetics
Co-authored papers 7
Joseph A Kitterman
University of California San Francisco
Co-authored papers 5
David M Rocke
University of California davis
Co-authored papers 5
Michael P O'Connell
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 4
Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
Co-authored papers 4
Maria Carola Zillikens
Co-authored papers 2
Stefan Mundlos
Max Planck Institute for Molecular Genetics
Co-authored papers 2
Lester D R Thompson
Woodland Hills Medical Center
Co-authored papers 1
Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Co-authored papers 1
Andrew E Rosenberg
Co-authored papers 1
Chris Jones
Co-authored papers 1
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 1
Erwin J O Kompanje
Erasmus MC-University Medical Center
Co-authored papers 1
Matthew A Brown
Co-authored papers 1
Angela E Lin
MassGeneral Hospital for Children
Co-authored papers 1
Vardit Ravitsky (CM4AI)
The Hastings Center
Co-authored papers 1
Denise Horn
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 1
Guiomar Perez de Nanclares
Bioaraba Health Research Institute, Araba University Hospital
Co-authored papers 1
Charlotte M Niemeyer
Co-authored papers 1
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Co-authored papers 1
Julie Hoover-Fong
Johns Hopkins University
Co-authored papers 1
Eduardo Grunvald
University of California San Diego School of Medicine
Co-authored papers 1
Sandra C Doelken
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
Co-authored papers 1
Arupa Ganguly
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 1
Phillip B Storm
Children's Hospital of Philadelphia
Co-authored papers 1
David Sillence
Sydney University Clinical School, Children's Hospital
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Release 1.2