National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH), USA

2015

  • A C. elegans drug discovery platform for dysferlin-based muscular dystrophies
  • A multiplex assay for the diagnosis of systemic juvenile idiopathic arthritis
  • A novel approach to osteogenesis imperfecta the collagen protein folding problem
  • Adipokine modulation of fibrosis: novel scleroderma pathway
  • Analysis of d4z4 heterochromatin in FSHD myoblast models
  • Anti TNF-alpha approach to treat osteogenesis imperfecta
  • Chaperone dysfunction in myopathy: connecting yeast genetics with mouse models
  • Characterizing in situ t cell:dendritic cell networks in human lupus nephritis and renal allograft rejection
  • Development of a novel HIBM2 mouse model and therapy
  • Down-regulation of microrna-206 in striated muscle of mdx mice improves muscle function.
  • Effectiveness of vbp15, a dissociative steroidal analogue, on inflammation in a mouse model of arthritis
  • Engineering disease-specific t cells for pemphigus therapy
  • FLMNB causes progressive skeletal fusions via TGF-beta/bmp signaling modulation
  • HTS for selective inhibitors of meprin alpha and beta
  • Immune cells and cytokines mediating fibrodysplasia ossificans progressiva
  • In vivo gene targeting to treat inherited bone disease
  • In vivo molecular probes for the membrane repair pathway in muscle
  • Innate immune regulation of stem cells in bone formation
  • Ion channel and lipid scramblase functions of anoctamins: roles in myopathy
  • Mitigating mitochondrial epigenetics in bone remodeling by hydrogen sulfide
  • Mkp5 in dystrophic muscle disease
  • Molecular alterations characterizing disease progression of cutaneous t cell lymphoma
  • Molecular and cellular determinants of enthesopathy in x-linked hypophosphatemia
  • Molecular biomarkers of improvement for patients with systemic sclerosis in an open label trial of mycophenolate mofetil
  • Novel regulators of inflammatory arthritis and bone erosion
  • Nuclear movement linc complex and emery-dreifuss muscular dystrophy
  • Optimization of an integrin enhancing molecule for the treatment of duchenne muscular dystrophy
  • Regulation of HSCS and HSC-derived osteoblasts in osteogenesis imperfecta
  • Roles of RNA helicase and ribosomal biogenesis in normal and diseased muscle
  • Speg is critical in skeletal muscle development and function
  • The efficacy of combination therapy in osteogenesis imperfecta
  • The IGE antibody response to dsg1 and environmental antigens in endemic pemphigus foliaceus
  • Treatment of muscular dystrophy by increased angiogenesis
  • Unveiling the proteostasis network of normal and disease_causing collagen_i
  • Using the dmd zebrafish animal model for identifying drug combination therapies and biomarkers

2014

  • Adult outcomes of juvenile idiopathic arthritis
  • Bone abnormalities & healing defect in muscular dystrophy
  • Brittle bone disorders consortium of the rare disease clinical research network
  • Defining common mechanisms of autoimmunity in pemphigus vulgaris
  • DNA methylation biomarkers of scleroderma-associated interstitial lung disease
  • Elucidating muscle regeneration defects in fukutin ko mice
  • Engineering pluripotent stem cells to treat osteogenesis imperfecta
  • Epigenetic modifiers of d4z4 in facioscapulohumeral muscular dystrophy (FSHD)
  • Epigenetic regulation in facioscapulohumeral muscular dystrophy type 2 (FSHD2)
  • Galectin 1: a novel small protein therapy for Duchenne muscular dystrophy
  • Human artificial chromosome as vectors for gene therapy of a model skin disease
  • Human dysferlin and its implications in limb-girdle muscular dystrophy
  • Identical twins discordant for juvenile dermatomyositis: ipsc-myogenic cells
  • Immune cell regulation of the regeneration of dystrophic muscle
  • Inhibition of gsk3 beta as potential therapy for dm1
  • Inhibition of the rho/mrtf/srf pathway as a new treatment for systemic sclerosis
  • Injury response in normal and EDS tendons: regulatory roles of collagen v
  • Innate immunity in the pathogenesis of lupus and antiphospholipid vasculopathy
  • Integrative analysis of genomic risk factors in juvenile idiopathic arthritis
  • Intrafibrillar mineralization vs. Bone fragility
  • Laminin protein therapy for congenital muscular dystrophy
  • Manipulation of PTEN/AKT signaling in duchenne muscular dystrophy as a means of t
  • Mechanisms of macrophage activation and function in scleroderma
  • Mechanisms of muscle inflammation in muscular dystrophy
  • Mechanisms of vertebral bone disease in mucopolysaccharidosis vii
  • Modulating skeletal muscle regeneration by delivery of myeloid lineage cells
  • Molecular etiology of enchondromatosis: hedgehog regulation in chondrocytes
  • Nanopatterned 3d vascularized functional muscle patch
  • Non-heritable genetic diseases of the skeletal system: pathogenesis and treatment
  • Novel therapy for tumor-induced osteomalacia
  • Pathogenesis and natural history in a longitudinal hemangioma syndrome cohort
  • Pathogenesis of systemic sclerosis: role of the skin-resident cd8+ t cells
  • Pathogenesis of the neuromuscular synapse in Pompe disease
  • Regulation of muscle fiber type and resistance to muscular dystrophy
  • Relationships between autoimmune igg1 and igg4 repertoires in pemphigus vulgaris
  • Role of dysferlin in t-tubules of skeletal muscle
  • Role of iron and hypoxia sensing in fgf23-dependent metabolic bone disease
  • Role of proteoglycan sulfation during muscle regeneration in dystrophic animals
  • Role of TRPV channels in the pathogenesis of systemic sclerosis vasculopathy
  • Smchd1 pathways as candidate targets for FSHD
  • Stat3 and il-17-th17 in skin immunity to MRSA
  • Structure and function of human pemphigus autoantibodies
  • Structure-function of the nuclear envelope bridge and its role in laminopathies
  • Synovial biomarkers in olgoarticular juvenile idiopathic arthritis
  • Targeted enzyme replacement therapy for rare forms of osteogenesis imperfecta
  • Targeting therapeutic molecules to dystrophic muscle via the immune system
  • The role of germline mutations of the RAS/MAPK pathway on skeletal myogenesis
  • TSLP profibrotic signaling and its interaction with TGF-beta
  • Unraveling the mechanisms of prenatal-onset disorders affecting the skeleton
  • Utility of novel Na channel slow inactivation enhancers in myotonia
  • Visualizing desmosome structure and dynamics by polarized fluorescence microscopy

2013

  • A novel mouse model for immune-mediated skin fibrosis in scleroderma (website)
  • Adaptive Immune Response to Gut Microbiota in Juvenile &Adult Spondyloarthritis (website)
  • Assessing and Modulating the role of inflammation and Fibrosis in the Dystrophic (website)
  • Clinical prioritization of reported disease variants in asymptomatic individuals (website)
  • Clinical Trial Planning in Pompe Disease (website)
  • Consortium for Translational Research in Marfan Syndrome (website)
  • Drug Discovery for Multiple Hereditary Exostoses (website)
  • Elucidating mitochondrial pathomechanisms of ENT3 disorders in ENT3 KO mice (website)
  • Evaluation of the Antigenicity of Black Restricted FVIII Haplotypes and Haplotype (website)
  • Exome sequencing in the skeletal dysplasias (website)
  • Exploring Perspectives on Genomics and Sickle Cell Public Health Interventions (website)
  • Genome correction of Myotonic Dystrophy type 1 iPS cells by TALEN technology (website)
  • Genomic Regulation at the Nuclear Periphery (website)
  • Identification and Validation of Targets of Phenotypic High Throughput Screening (website)
  • Imaging of failed Regeneration in muscles of muscular dystrophy patients (website)
  • Innovative Efficacy Measures of Lupus Nephritis Therapies (website)
  • Magnetic resonance imaging of bound and free water in cortical bone (website)
  • Mapping Modifiers of Cardiomyopathy un Muscular Dystrophy (website)
  • Modulating the levels of a splicing factor to reveal the complexities of a splice (website)
  • Molecular basis for skeletal muscle pathophysiology in Pompe’s disease (website)
  • Naturally Occurring Dog Model for Juvenile Dermatomyositis (website)
  • Novel regulation of PTH receptor functions in bone (website)
  • Overcoming our clinical complications: AAV vector design for the treatment of DMD (website)
  • Phosphoinositide Signaling Regulates Melanogenesis (website)
  • Reprogramming and Directed Differentiation of Skeletal Muscle Cells from hPSCs (website)
  • Scleroderma twin study (website)
  • Skin-targeted Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa (website)
  • Systems Biology for Molecular Analysis of Tuberculosis in Ethiopia (website)
  • Targeted Correction of Dominant Mutations of Type I Collagen Causing Severe OI (website)
  • Targeting the Lrp5 Pathway To Increase Bone Strength In Osteogenesis Imperfecta (website)
  • The role of CMET in satellite cells during muscle regeneration (website)
  • The Relationship between Genomic Variants and MRI/MRS Markers in DMD (website)
  • Translational studies of GAA deficiency in bioengineered human muscle (website)
  • Understanding the skeletal phenotype of Gaucher disease (website)

2012

  • A myoutube-specific deletion model for sarcopenia (website)
  • A new DMD model with a humanized glycome (website)
  • Assessment of Bone Composition Through a Novel Liquid/Solid State MRI Method (website)
  • Assessing the Impact of Osteogenesis Imperfecta on Non-Skeletal Systems (website)
  • BLOC-1 and BLOC-2 function in melanosome maturation (website)
  • Cancer, Autoantigens, and Scleroderma Investigating the Connection (website)
  • Caveolin-1 Regulates Monocyte-Fibrocyte Lineage Cell Functions via CXCR4 (website)
  • CCDC78 and the pathogenesis of centronuclear myopathy (website)
  • Characterization of Autoreactivity to Muscle Proteins in Inclusion Body Myositis (website)
  • Characterizing the Cells of Origin for Basal Cell Carcinoma (website)
  • Computational and Functional Approaches To Validating Cancer Genome Targets (website)
  • Cytoplasmic Actins in Maintenance of Muscle Mitochondria (website)
  • Defective c-MET signaling in African American scleroderma patients (website)
  • Determinants of Health Related Quality of Life in Children with JIA (website)
  • Disease Pathogenesis and Modification for CaV1.1-Associated Hypokalemic Periodic (website)
  • Druggable Pathways Regulating Self-Renewal in Muscle and Rhabdomyosarcoma (website)
  • DUX4 and the P53 pathway in FSHD pathogenesis (website)
  • Elucidating the Cellular and Molecular Mechanisms of Late-Onset Scoliosis (website)
  • Enhancing the CARRA: Integration and Dissemination of Clinical Data (website)
  • Establishing endpoints in canine myotubular myopathy for clinical translation (website)
  • Exercise and Body Composition in Juvenile Idiopathic Arthritis (website)
  • Genetic and Genomic Dissection of Psoriatic Arthritis (website)
  • Genetically Engineered Muscle Stem Cell Transplantation for Muscular Dystrophy (website)
  • Growth Regulatory Pathways in Vascular Anomalies (website)
  • H3Africa Kidney Disease Research Network (website)
  • Heterotopic bone from stem cells in peripheral nerves released by neurogenic infl (website)
  • High-fat diet rescues lethality of homozygous knock-in R155H VCP myopathic mice (website)
  • Imaging of failed Regeneration in muscles of muscular dystrophy patients (website)
  • Improved Understanding of the Biology and Use of the TNF Inhibition in JIA (website)
  • Inflammasome function and SJIA (website)
  • Interplay between Type I IFN and TGF-beta signaling in systemic sclerosis (website)
  • Local Intravascular Delivery of Follistatin Gene Therapy for Muscular Dystrophy (website)
  • Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Art (website)
  • Molecular Imaging for Detection and Treatment Monitoring of Arthritis (website)
  • Muscular Dystrophy Therapy by Increased Angiogenesis (website)
  • Optimizing Normal Collagen Replacement in Osteogenesis Imperfecta (website)
  • Pathogenesis and Therapy of Ichthyosis in Disorders of Lipid Metabolism (website)
  • Pathogenesis of Muscular Dystrophies (website)
  • Pathogenic role of valosin-containing protein (VCP) in IBMPFD (website)
  • Planning a Multicenter Trial of PDE5A Inhibition for Duchenne Muscular Dystrophy (website)
  • Promoting regeneration in muscular dystrophy with adipose derived stem cells (website)
  • Reducing skeletal muscle fibrosis in DMD with AAV-delivered miR-29 (website)
  • Regulation of Dermal Fibroblasts in Skin Regeneration and Healing (website)
  • Retinoic Acid Modulation for Scleroderma (website)
  • Role of the Leprecan genes in skeletal formation (website)
  • Role of the matrix metalloproteinase in pemphigus autoantibody-mediated epidermal (website)
  • Role of ZNF9 in Pathogenesis of Myotonic Dystrophy Type 2 (DM2) (website)
  • Roles of RNA helicase and ribosomal biogenesis in normal and diseased muscle (website)
  • Sacroiliitis in early ERA (website)
  • Sclerostin Antibody Therapy for Treatment of Osteogenesis Imperfecta (website)
  • Soluble Motogens and Chemoattractants from Damaged Muscle (website)
  • Spectroscopic Probes of the Muscle Cytoskeleton (website)
  • Syk blockade in bullous skin diseases (website)
  • Systems Biology of Tumor Progression and Drug Resistance (website)
  • Targeting Membrane Repair in Muscular Dystrophy (website)
  • Telomere extension using nucleoside-modified mRNA and exosomes as a novel therape (website)
  • The Function of PEDF in Recessive Osteogenesis Imperfecta (website)
  • The Role of Germline Mutations in the Ras/MAPK Pathway on Skeletal Myogenesis (website)
  • The role of IFT80 in bone formation (website)
  • The Role Of Lysophosphatidic Acid (LPA) And Its Receptor, LPA1 In Scleroderma (website)
  • The Role of Presenilin in Hidradenitis Suppurativa (website)
  • Thick and Thin Filament Mutations that cause Distal Arthrogryposis (website)

2011

  • Antisense oligonucleotide treatment for myotonic dystrophy (website)
  • Artificial site-specific RNA endonuclease as new Myotonic Dystrophy therapeutics (website)
  • Biomarker discovery and validation in a Duchenne dystrophy natural history study (website)
  • Calcium Regulation in the Progression of Muscular Dystrophy (website)
  • Cathespin K Radioligands for In Vivo Imaging (website)
  • Center for research translation of systemic exon-skipping in muscular dystrophy (website)
  • Clinically Meaningful Outcomes for Duchenne Muscular Dystrophy Therapeutic Trials (website)
  • Conformational measurements of RyR1 using a site-specific labeling method (website)
  • Development of a Porcine Model of Duchenne Muscular Dystrophy (website)
  • Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI Experiment (website)
  • Does increasing bone mass also increase bone strength in mouse models of OI? (website)
  • Electrical impedance myography and quantitative ultrasound in Duchenne muscular d (website)
  • Etiology and Therapy of Rickets in the Hyp mouse model of XLH (website)
  • Evaluation and treatment of enthesitis-related arthritis (website)
  • Evaluation of a Novel Anti-Resorptive Therapy for Osteogenesis Imperfecta (website)
  • Identification of a novel population in the adult bone marrow (website)
  • Identifying the Gene for Scleroderma in Tsk/2 mice that model Human SSc Subsets (website)
  • Incorporation of Genomic Sequencing into Pediatric Cancer Care (website)
  • Investigation of Sulf regulation on the noncanonical Wnt signaling pathway (website)
  • Lymphangioleiomyomatosis (Lam) Registry (website)
  • Mapping Modifiers of Cardiomyopathy un Muscular Dystrophy (website) 2013
  • Mechanisms of Genetic Reversion in Ichthyosis With Confetti (website)
  • Mechanisms of Mitochondrial Myopathy (website)
  • MG53-Mediated Membrane Repair in Muscle Physiology and Disease (website)
  • Microarray-Based Biomarkers in Juvenile Idiopathic Arthritis (website)
  • Model of Human Disc Regeneration in the spectrum of Degenerative Disc Disease (website)
  • Modulation of muscle regeneration by growth factors (website)
  • Molecular Markers for Progression of Pulmonary Fibrosis in Systemic Sclerosis (website)
  • MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juveni (website)
  • Muscle-Specific Basis of OPMD (website)
  • Novel therapeutic targets and/or prognostic markers in Marfan syndrome (website)
  • Regulation of apoptosis in osteoblasts by Runx2 and NFkB (website)
  • Regulation of Osteoblast Function by Megakaryocytes: Key Signaling Proteins (website)
  • Regulation of osteoclast biology by anion exchanger SLC4A2 in mouse and human sys (website)
  • Role of FN14 in RNA Toxicity (website)
  • Role of the Giant Protein Titin in Skeletal Muscle Structure and Function (website)
  • Runx2 and Axin2 Interactions During Bone Formation (website) 2010
  • Segmental chromosome sharing in affected relatives with Juvenile Arthritis (website)
  • Skeletal genetic pathways of Notch and p53 in the pathogenesis of osteosarcoma (website)
  • Targeting fibrocytes in Duchenne muscular dystrophy (website)
  • Targeting thrombospondin 1 in bone resorption (website)
  • The Effects of CFTR Dysfunction on Bone Formation (website)
  • The role of FHL1 in Emery-Dreifuss and Reducing Body Myopathies (website)
  • The role of Twist family bHLH factors in limb morphogenesis (website)
  • Tissue Distribution For Rare Disease Research (website)
  • Vascular Delivery of alpha-Sarcoglycan for LGMD2D (website)
  • WebSMART: Efficacy of Web-Based Pain Self-Management for Adolescents with JIA (website)

 

2010

  • A role for IL-1 in SJIA monocyte phenotypes: A RAPPORT ancillary study (website)
  • Adherence-strong for juvenile arthritis (website)
  • Antiphospholipid antibodies and lupus: new molecular targets for treatment (website)
  • ATF4 and Osteoclastogenesis (website)
  • Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal Muscle (website)
  • Calcium and oxidative stress in muscular dystrophy (website)
  • CF Bone Disease: Convergence of CFTR and PTH Signaling (website)
  • Clonal Isogenic and Immortalized FSHD Myoblasts with or without D4Z4 Contraction (website)
  • Comparison of Bisphosphonate Treatment Regimens on Skeletal Growth & Biomechanics (website)
  • Consequences of Mutant COMP Expression and Therapeutic Approaches in Transgenic M (website)
  • Cx26 mutations in syndromic deafness linked to skin disease (website)
  • Delivery of Soluble FGFR3 as a Treatment for Achondroplasia (website)
  • Drosophila as a model for Emery-Dreifuss muscular dystrophy (website)
  • Dysferlin regulation of acetylcholine signaling at the C. elegans NMJ (website)
  • Genetic & immunologic etiology of chronic recurrent multifocal osteomyelitis-CRMO (website)
  • GFI-1 and Osteoblast Suppression in Multiple Myeloma (website)
  • Hematopoietic Stem Cell Transplantation in Osteogenesis Imperfecta (website)
  • Imaging of failed Regeneratedion in muscles of muscular dystrophy patients (website)
  • Intra-arterial delivery of skeletal muscle stem cells (website)
  • Intracellular calcium leak and muscle function (website)
  • Joint Contractures in Golden Retriever Muscular Dystrophy: A Model for Duchenne M (website)
  • Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy (website)
  • Mechanisms and efficacy of myostatin inhibition in myotubular myopathy (website)
  • Mechanisms of Force Loss in Injured and Dystrophic Skeletal Muscle (website)
  • Mechanisms of Response and Relapse in Rituximab-treated Myositis Patients (website)
  • Mechanotransduction Approach to Improve Bone Quality in Osteogenesis Imperfecta (website)
  • Messenger RNA stability in myotonic dystrophy (website)
  • Modulating tolerance in a spontaneous mouse model of autoimmune vitiligo (website)
  • Modulation of Muscle Regenerationby Growth Factors (website)
  • Molecular and cellular mechanisms of heterotopic ossification (website)
  • Molecular Pathways Regulated By DUX4, an FSHD-Associated Gene (website)
  • Natural history of bone disease and the impact of growth hormone treatment in MPS (website)
  • Pathogenesis of autoimmune endocarditis: roles for Fc receptors and integrins? (website)
  • Pathogenesis of Monoclonal Gammopathy Bone Disease (website)
  • PKA-Wnt Crosstalk in Bone is Mediated by beta-Catenin Nuclear Complex Formation (website)
  • Potassium channels in myotonic dystrophy type 1 (website)
  • Preclinical Testing of Integrin Enhancing Molecules for the Treatment of Muscular (website)
  • Protein Therapeutics for Muscular Dystrophy (website)
  • Role of autoantibody isotype in pemphigus pathogenesis (website)
  • Targeting a Toxic RNA with Small Molecules (website)
  • The Role of IL-17 Axis in Inflammatory Myositis (website)
  • The Role of mu-Crystallin in Facioscapulohumeral Muscular Dystrophy (website)
  • The role of nucleo-cytoskeletal link proteins in skeletal muscle (website)
  • The Role of Protein Turnover in a Drosophila Model of Muscle Atrophy (website)
  • The Role of RECQL4 in Bone Development and Osteosarcoma (website)
  • The role of Spry2 in regulation of bone formation (website)