![Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-021-01921-2/MediaObjects/13023_2021_1921_Fig1_HTML.png)
Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text
COL6A1 expression affects the prognosis of patients with pancreatic... | Download Scientific Diagram
![Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy | Journal of Medical Genetics Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy | Journal of Medical Genetics](https://jmg.bmj.com/content/jmedgenet/42/2/108/F1.large.jpg)
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy | Journal of Medical Genetics
![JCI Insight - A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies JCI Insight - A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies](https://df6sxcketz7bb.cloudfront.net/manuscripts/124000/124403/medium/jci.insight.124403.f1.jpg)
JCI Insight - A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging | Aging
![Diagram of the COL6A1 gene on human Chromosome 21 and the BAC clone... | Download Scientific Diagram Diagram of the COL6A1 gene on human Chromosome 21 and the BAC clone... | Download Scientific Diagram](https://www.researchgate.net/publication/232700095/figure/fig1/AS:601654500016153@1520457019386/Diagram-of-the-COL6A1-gene-on-human-Chromosome-21-and-the-BAC-clone-used-in-this-study.png)
Diagram of the COL6A1 gene on human Chromosome 21 and the BAC clone... | Download Scientific Diagram
Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing | PLOS ONE
![Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-021-01921-2/MediaObjects/13023_2021_1921_Fig2_HTML.png)
Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text
![JCI Insight - Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis JCI Insight - Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis](https://df6sxcketz7bb.cloudfront.net/manuscripts/98000/98864/medium/jci.insight.98864.f1.jpg)
JCI Insight - Mesenchymal TNFR2 promotes the development of polyarthritis and comorbid heart valve stenosis
![IJMS | Free Full-Text | CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts IJMS | Free Full-Text | CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts](https://pub.mdpi-res.com/ijms/ijms-23-04410/article_deploy/html/images/ijms-23-04410-ag.png?1668570366)
IJMS | Free Full-Text | CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
![Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-021-01921-2/MediaObjects/13023_2021_1921_Fig3_HTML.png)
Causative variant profile of collagen VI-related dystrophy in Japan | Orphanet Journal of Rare Diseases | Full Text
![Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD - ScienceDirect Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2162253120301554-fx1.jpg)