ArticlePloS one2016
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review.Digestive diseases and sciences · 2026Review
- The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.Journal of musculoskeletal & neuronal interactions · 2026Review
- Ventral coxofemoral luxation in poodle breeds: multicentre retrospective case series.The Journal of small animal practice · 2026Article
- Genetic Causes and Ankle Instability in Hypermobile Ehlers-Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging.Journal of clinical medicine · 2026Article
- Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.Clinical proteomics · 2026Article
- A trial of exosome rich stem cell secretome as a potential treatment for Hypermobile Ehlers-Danlos Syndrome.Frontiers in medicine · 2026Article
- Proteomic discoveries in hypermobile Ehlers-Danlos syndrome reveal insights into disease pathophysiology.ImmunoHorizons · 2025Article
- B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.JCI insight · 2025Article
- Rare missense variants inJournal of medical genetics · 2025Article
- Fascial Pathophysiology in Hypermobility Spectrum Disorders and Hypermobile Ehlers-Danlos Syndrome: A Review of Emerging Evidence.International journal of molecular sciences · 2025Review
- Evaluating the Impact of Capsular Closure on Clinical Outcomes, Revision Rates, and Return to Sports in Adolescent Females Undergoing Hip Arthroscopy for Femoroacetabular Impingement.Orthopaedic journal of sports medicine · 2025Article
- Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome.Current issues in molecular biology · 2024Article
- Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review.Biomolecules · 2024Review
- Hypermobility spectrum disorders: A review.Rheumatology and immunology research · 2023Article
- The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.Postepy dermatologii i alergologii · 2023Article
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- FLG Is a Potential Biomarker of Prognosis and Immunotherapy in Skin Cutaneous Melanoma.Applied bionics and biomechanics · 2022Article
- Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome.Frontiers in genetics · 2022Article
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Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci. In order to help in deciphering such a complex molecular background, we carried out a comprehensive immunofluorescence analysis and gene expression profiling in cultured skin fibroblasts from five women affected with JHS/EDS-HT. Protein study revealed disarray of several matrix structural components such as fibrillins, tenascins, elastin, collagens, fibronectin, and their integrin receptors. Transcriptome analysis indicated perturbation of different signaling cascades that are required for homeostatic regulation either during development or in adult tissues as well as altered expression of several genes involved in maintenance of extracellular matrix architecture and homeostasis (e.g., SPON2, TGM2, MMP16, GPC4, SULF1), cell-cell adhesion (e.g., CDH2, CHD10, PCDH9, CLDN11, FLG, DSP), immune/inflammatory/pain responses (e.g., CFD, AQP9, COLEC12, KCNQ5, PRLR), and essential for redox balance (e.g., ADH1C, AKR1C2, AKR1C3, MAOB, GSTM5). Our findings provide a picture of the gene expression profile and dysregulated pathways in JHS/EDS-HT skin fibroblasts that correlate well with the systemic phenotype of the patients.
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