ArticlePloS one2017
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Multimodal Analysis of Aggressive Multifocal Cutaneous Squamous Cell Carcinoma Associated with a Germline COL6A3 Truncating Variant: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.Acta neuropathologica communications · 2026Article
- Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.The Journal of clinical investigation · 2022Article
- The importance of verifying the novelty of a finding and the value of combining results.Annals of clinical and translational neurology · 2022Article
- Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.Connective tissue research · 2022Review
- Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.Annals of clinical and translational neurology · 2021Article
- AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Etiopathogenetic Mechanisms in Diverticular Disease of the Colon.Cellular and molecular gastroenterology and hepatology · 2020Review
- Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament.Journal of orthopaedic surgery and research · 2019Article
- Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features BetweenGenes · 2019Article
- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.American journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesThe collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD. Null alleles (nonsense, frameshift, and large deletions) do not allow incorporation of abnormal chains and act recessively. To better define the pathways disrupted by mutations in collagen VI, we have used a transcriptional profiling approach with RNA-Seq to identify differentially expressed genes in COL6-RD individuals from controls.
methodsRNA-Seq allows precise detection of all expressed transcripts in a sample and provides a tool for quantification of expression data on a genomic scale. We have used RNA-Seq to identify differentially expressed genes in cultured dermal fibroblasts from 13 COL6-RD individuals (8 dominant negative and 5 null) and 6 controls. To better assess the transcriptional changes induced by abnormal collagen VI in the extracellular matrix (ECM); we compared transcriptional profiles from subjects with DN mutations and subjects with null mutations to transcriptional profiles from controls.
resultsDifferentially expressed transcripts between COL6-RD and control fibroblasts include upregulation of ECM components and downregulation of factors controlling matrix remodeling and repair. DN and null samples are differentiated by downregulation of genes involved with DNA replication and repair in null samples.
conclusionsDifferentially expressed genes identified here may help identify new targets for development of therapies and biomarkers to assess the efficacy of treatments.
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