Associated Papers
Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.
López-Márquez A et al.
Disease Models & Mechanisms, 2026
Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.
Sabatell P et al.
International Journal of Molecular Sciences, 2025
Gene editing for collagen disorders: current advances and future perspectives.
Kocsy K et al.
Gene Therapy, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fortunato F et al.
Biomolecules, 2025
Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.
White T et al.
Journal of the Royal Society, Interface, 2025
Allele-specific CRISPR-Cas9 editing inactivates a single-nucleotide variant associated with collagen VI muscular dystrophy.
Aoki Y
Molecular Therapy. Nucleic Acids, 2024
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Benati D et al.
Biomolecules, 2024
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing.
Aguti S et al.
Molecular Therapy. Nucleic Acids, 2024
Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V et al.
Molecular Therapy. Nucleic Acids, 2024
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy.
Brull A et al.
Molecular Therapy. Nucleic Acids, 2024
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V et al.
Biorxiv : the Preprint Server for Biology, 2024
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.
Bolduc V et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Hu C et al.
Human Mutation, 2024
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.
Badosa C et al.
Scientific Reports, 2023
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L et al.
International Journal of Molecular Sciences, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S et al.
Frontiers in Genome Editing, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.
Castroflorio E et al.
International Journal of Molecular Sciences, 2022
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
López-Márquez A et al.
International Journal of Molecular Sciences, 2022
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.
Almici E et al.
Frontiers in Bioengineering and Biotechnology, 2022
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Bao M et al.
Bmc Neurology, 2019
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Kim SY et al.
Muscle & Nerve, 2018
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.
Fan Y et al.
Clinical Genetics, 2018
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M et al.
Neuromuscular Disorders : Nmd, 2017
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
Park HJ et al.
Clinical Genetics, 2017
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
Cruz S et al.
Journal of Neuromuscular Diseases, 2016
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Butterfield RJ et al.
Human Mutation, 2013
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
Kim J et al.
Neuromuscular Disorders : Nmd, 2012
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0