Associated Papers
A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.
Harissa Z et al.
Stem Cell Research & Therapy, 2026
Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.
López-Márquez A et al.
Disease Models & Mechanisms, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 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
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Foley AR et al.
Brain : a Journal of Neurology, 2025
Variant-specific deep phenotyping as a tool to develop precision therapies.
Horvath R et al.
Brain : a Journal of Neurology, 2025
Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene.
Jiang Y et al.
Stem Cell Research, 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
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F et al.
Brain : a Journal of Neurology, 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
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.
Kwong AK et al.
Neuromuscular Disorders : Nmd, 2023
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype.
Starace M et al.
International Journal of Molecular Sciences, 2023
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S et al.
International Journal of Molecular Sciences, 2023
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
Aguti S et al.
Methods in Molecular Biology (clifton, N.j.), 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
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Morel V et al.
Frontiers in Genetics, 2023
The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains.
Freiburg CD et al.
Human Mutation, 2023
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.
Almici E et al.
Frontiers in Bioengineering and Biotechnology, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Ablation of collagen VI leads to the release of platelets with altered function.
Abbonante V et al.
Blood Advances, 2021
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG et al.
Neurology. Genetics, 2021
Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.
Lamandé SR
Advances in Experimental Medicine and Biology, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.
Beecroft SJ et al.
Molecular Diagnosis & Therapy, 2020
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Aguti S et al.
Molecular Therapy. Nucleic Acids, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Winder TL et al.
Neurology. Genetics, 2020
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V et al.
Jci Insight, 2019
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