New therapeutic targets in rare genetic skeletal diseases

Mechanisms of Aberrant Organization of Growth Plates in Conditional Transgenic Mouse Model of Spondyloepiphyseal Dysplasia Associated with the R992C Substitution in Collagen II

(2015) Machiko Arita et al.   AMERICAN JOURNAL OF PATHOLOGY

Mechanoresponsive, omni-directional and local matrix-degrading actin protrusions in human mesenchymal stem cells microencapsulated in a 3D collagen matrix

(2015) Fu Chak Ho et al.   BIOMATERIALS

Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in theFGFR3Gene

(2015) Masaki Matsushita et al.   ENDOCRINOLOGY

Basic mechanisms in endoplasmic reticulum stress and relation to cardiovascular diseases

(2015) Erdi Sozen et al.   FREE RADICAL BIOLOGY AND MEDICINE

Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia

(2015) Karen L. Posey et al.   HUMAN MOLECULAR GENETICS

ER Stress During the Pubertal Growth Spurt Results in Impaired Long-Bone Growth in Chondrocyte-Specific ERp57 Knockout Mice

(2015) Andrea Linz et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta-Analysis of Placebo-Controlled Trials

(2015) Jannie D Hald et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series

(2015) Libby Kosnik-Infinger et al.   Neurosurgical Focus

Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints

(2015) Emil D Kakkis et al.   Orphanet Journal of Rare Diseases

Cartilage-specific ablation of XBP1 signaling in mouse results in a chondrodysplasia characterized by reduced chondrocyte proliferation and delayed cartilage maturation and mineralization

(2015) T.L. Cameron et al.   OSTEOARTHRITIS AND CARTILAGE

Increased Classical Endoplasmic Reticulum Stress Is Sufficient to Reduce Chondrocyte Proliferation Rate in the Growth Plate and Decrease Bone Growth

(2015) Louise H. W. Kung et al.   PLoS One

Vedolizumab

(2014) Michael A. Smith et al.   ANNALS OF PHARMACOTHERAPY

Deficiency in Perlecan/HSPG2 During Bone Development Enhances Osteogenesis and Decreases Quality of Adult Bone in Mice

(2014) Dylan A. Lowe et al.   CALCIFIED TISSUE INTERNATIONAL

Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations

(2014) Holly A. Leddy et al.   FASEB JOURNAL

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells

(2014) Minoru Okada et al.   HUMAN MOLECULAR GENETICS

Mice Expressing MutantTrpv4Recapitulate the HumanTRPV4Disorders

(2014) Michael M Weinstein et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Altered Signaling in the G1 Phase Deregulates Chondrocyte Growth in a Mouse Model With Proteoglycan Undersulfation

(2014) Fabio De Leonardis et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

(2014) Sara De Palma et al.   JOURNAL OF PROTEOME RESEARCH

Modulation of the Secretory Pathway Rescues Zebrafish Polycystic Kidney Disease Pathology

(2014) S. Le Corre et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Pseudoachondroplasia/COMP — translating from the bench to the bedside

(2014) Karen LaShea Posey et al.   MATRIX BIOLOGY

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes

(2014) Akihiro Yamashita et al.   NATURE

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

(2014) Jean de la Croix Ndong et al.   NATURE MEDICINE

TRPV4 as a therapeutic target for joint diseases

(2014) Amy L. McNulty et al.   NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

Endoplasmic Reticulum Stress-Unfolding Protein Response-Apoptosis Cascade Causes Chondrodysplasia in a col2a1 p.Gly1170Ser Mutated Mouse Model

(2014) Guoyan Liang et al.   PLoS One

Patient-Derived Skeletal Dysplasia Induced Pluripotent Stem Cells Display Abnormal Chondrogenic Marker Expression and Regulation by BMP2 and TGFβ1

(2014) Biagio Saitta et al.   STEM CELLS AND DEVELOPMENT

Alteration of proteoglycan sulfation affects bone growth and remodeling

(2013) Benedetta Gualeni et al.   BONE

Role of Endoplasmic Reticulum Stress in Diabetic Neuropathy

(2013) N. E. Cameron   DIABETES

A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth

(2013) B. Gualeni et al.   Disease Models & Mechanisms

Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

(2013) M.B. Alcausin et al.   Hormone Research in Paediatrics

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases

(2013) Claire L. Hartley et al.   HUMAN MOLECULAR GENETICS

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

(2013) Lydia S. Murray et al.   HUMAN MOLECULAR GENETICS

Skeletal diseases caused by mutations that affect collagen structure and function

(2013) William V. Arnold et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia

(2013) Karen L Posey et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Musculoskeletal Functional Outcomes in Children With Osteogenesis Imperfecta

(2013) Ted Sousa et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis

(2013) Ruei-Cheng Yang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Reagents for developmental regulation of Hedgehog signaling

(2013) Cristy Lewis et al.   METHODS

Temporomandibular joint pain: A critical role for Trpv4 in the trigeminal ganglion

(2013) Yong Chen et al.   PAIN

Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10

(2013) Kaisa Kyöstilä et al.   PLoS One

Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia

(2013) Masaki Matsushita et al.   PLoS One

From mysteries to medicines: drug development for fibrodysplasia ossificans progressiva

(2013) Frederick S Kaplan et al.   Expert Opinion on Orphan Drugs

Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia

(2012) Florence Lorget et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discoidin domain receptor 2 (DDR2) regulates proliferation of endochondral cells in mice

(2012) Ikuma Kawai et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel method for the large-scale production of PG-CNP37, a C-type natriuretic peptide analogue

(2012) Shinong Long et al.   JOURNAL OF BIOTECHNOLOGY

The intersecting roles of endoplasmic reticulum stress, ubiquitin–proteasome system, and autophagy in the pathogenesis of proteinuric kidney disease

(2012) Andrey V. Cybulsky   KIDNEY INTERNATIONAL

Osteoarthritis year 2012 in review: biomarkers

(2012) A. Mobasheri   OSTEOARTHRITIS AND CARTILAGE

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

(2012) R. Venditti et al.   SCIENCE

An Orally Active TRPV4 Channel Blocker Prevents and Resolves Pulmonary Edema Induced by Heart Failure

(2012) Kevin S. Thorneloe et al.   Science Translational Medicine

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

D469del-COMP Retention in Chondrocytes Stimulates Caspase-Independent Necroptosis

(2011) Françoise Coustry et al.   AMERICAN JOURNAL OF PATHOLOGY

Chop (Ddit3) Is Essential for D469del-COMP Retention and Cell Death in Chondrocytes in an Inducible Transgenic Mouse Model of Pseudoachondroplasia

(2011) Karen L. Posey et al.   AMERICAN JOURNAL OF PATHOLOGY

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia

(2011) Farhana Suleman et al.   HUMAN MUTATION

Transcriptional Profiling of Chondrodysplasia Growth Plate Cartilage Reveals Adaptive ER-Stress Networks That Allow Survival but Disrupt Hypertrophy

(2011) Trevor L. Cameron et al.   PLoS One

Wnt/ -catenin signaling is differentially regulated by G  proteins and contributes to fibrous dysplasia

(2011) J. B. Regard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapy for the mucopolysaccharidoses

(2011) V. Valayannopoulos et al.   RHEUMATOLOGY

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

(2010) Gail C. Jackson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia

(2010) Seema Nundlall et al.   CELL STRESS & CHAPERONES

Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias

(2010) Akihiro Yasoda et al.   ENDOCRINE JOURNAL

The skeletal dysplasias

(2010) Deborah Krakow et al.   GENETICS IN MEDICINE

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

(2010) Bassam R. Ali et al.   HUMAN MOLECULAR GENETICS

In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences

(2010) K. Y. Tsang et al.   JOURNAL OF CELL SCIENCE

Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma

(2010) Carlos E de Andrea et al.   LABORATORY INVESTIGATION

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling

(2010) Benedetta Gualeni et al.   MATRIX BIOLOGY

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

(2010) Patrick Smits et al.   NEW ENGLAND JOURNAL OF MEDICINE

RNAi Reduces Expression and Intracellular Retention of Mutant Cartilage Oligomeric Matrix Protein

(2010) Karen L. Posey et al.   PLoS One

Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal Morphogenesis

(2010) Swapnalee Sarmah et al.   PLoS One

Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda

(2009) Mei Y. Choi et al.   BIOCHEMICAL JOURNAL

The unfolded protein response and its relevance to connective tissue diseases

(2009) Raymond P. Boot-Handford et al.   CELL AND TISSUE RESEARCH

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function

(2009) Justin M. Allen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

(2009) M. Helen Rajpar et al.   PLoS Genetics

Bisphosphonate treatment in craniofacial fibrous dysplasia—a case report and review of the literature

(2008) Antti A. Mäkitie et al.   CLINICAL RHEUMATOLOGY

Primary cilia in osteoarthritic chondrocytes: From chondrons to clusters

(2008) S.R. McGlashan et al.   DEVELOPMENTAL DYNAMICS

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

(2008) Matthew J Rock et al.   NATURE GENETICS

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

(2008) N.C. Voermans et al.   NEUROMUSCULAR DISORDERS

The solitary (primary) cilium–A mechanosensory toggle switch in bone and cartilage cells

(2007) J.F. Whitfield   CELLULAR SIGNALLING