• 'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia
• A B-Z junction induced by an A … A mismatch in GAC repeats in the gene for cartilage oligomeric matrix protein promotes binding with the hZα_ADAR1 protein
• A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic)
• A Child with Diminished Linear Growth and Waddling Gait
• A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
• A Novel <em>COMP</em> Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
• A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
• A novel COMP mutation in a Chinese patient with pseudoachondroplasia
• A novel COMP mutation in a pseudoachondroplasia family of Chinese origin
• A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature
• A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia
• A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
• A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing
• A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia
• A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis
• A unique case of skeletal dysplasia in an adult male in Late Iron Age Switzerland
• Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia
• Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
• Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein
• An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype
• Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures
• Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia
• Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology
• Bilateral stemless shoulder hemiarthroplasty in a female patient suffering from pseudoachondroplasia: A case report
• Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
• Cartilage oligomeric matrix protein and its binding partners in the cartilage extracellular matrix: interaction, regulation and role in chondrogenesis
• Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin
• Cartilage oligomeric matrix protein: COMPopathies and beyond
• Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
• Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia
• Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia
• Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children
• Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child
• Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
• Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report
• COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype
• Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene
• Curcumin and Resveratrol: Nutraceuticals with so Much Potential for Pseudoachondroplasia and Other ER-Stress Conditions
• CurQ+, a Next-Generation Formulation of Curcumin, Ameliorates Growth Plate Chondrocyte Stress and Increases Limb Growth in a Mouse Model of Pseudoachondroplasia
• D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis
• Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel <em>COMP</em> Mutation
• Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation
• Difficult to control asthma in the patient with pseudoachondroplasia
• Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia
• Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH)
• Enumeration of the colony-forming units-fibroblast from mouse and human bone marrow in normal and pathological conditions
• Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children
• Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia
• Functional characterization of a rare pathogenic variant c.875G &gt; A, p.(Cys292Tyr) in COMP
• Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia
• Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification
• Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias
• Health assessment of patients with achondroplasia, pseudoachondroplasia, and rickets based on 3D non-linear diagnostics
• Health consequences of mutant cartilage oligomeric matrix protein and its relationship to abnormal growth and joint degeneration
• Hearing loss in skeletal dysplasia patients
• Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
• Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia
• Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia
• Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia
• Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report
• In vitro and in silico analysis of a E559K mutation on cartilage oligomeric matrix protein
• Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth
• Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy
• Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications
• MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures
• Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases
• Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis
• Mutant COMP shapes growth and development of skull and facial structures in mice and humans
• Natural history study of Pseudoachondroplasia: A focus on oral health
• New perspectives on the treatment of skeletal dysplasia
• New therapeutic targets in rare genetic skeletal diseases
• Novel and recurrent <em>COMP</em> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
• Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
• Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies
• Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia
• Novel therapeutic interventions for pseudoachondroplasia
• Orthopaedic manifestations of pseudoachondroplasia
• Overcoming the barriers to diagnosis of Morquio A syndrome
• Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation
• Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
• Pseudoachondroplasia and painful sequelae
• Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz
• Pseudoachondroplasia: a case report
• Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
• Pseudoachondroplasia: Descriptions of a de novo and familial case
• Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients
• Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis
• Pseudoachondroplasia/COMP - translating from the bench to the bedside
• Recurrent Mutation (p.Arg718Pro) in the <em>COMP</em> Gene with Clinical Heterogeneity of Pseudoachondroplasia
• Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia
• Resveratrol Reduces COMPopathy in Mice Through Activation of Autophagy
• Review of cervical spine anomalies in genetic syndromes
• RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein
• Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up
• The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)
• Torticollis in Connection with Spine Phenotype
• Total Hip Arthroplasty with Extra-small Femoral Stems in Extremely Hypoplastic Femurs: A Case-Series Study
• Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation
• Two novel mutations of <em>COMP</em> in Japanese boys with pseudoachondroplasia
• Two novel mutations of COMP in Japanese boys with pseudoachondroplasia