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Cancers, 2023 International audienceClear-cell renal cell carcinoma (ccRCC) accounts for 75% of kidney cancers. Due to the high recurrence rate and treatment options that come with high costs and potential side effects, a correct prognosis of patient survival is ...
Dzenis Koca +2 more
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Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1 [PDF]
International Journal of Molecular Sciences, 2020 The COL7A1 gene encodes homotrimer fibrils essential for anchoring dermal and epidermal layers, and pathogenic mutations in COL7A1 can cause recessive or dominant dystrophic epidermolysis bullosa.
Kristin A Ham +2 more
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COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents
International Journal of Molecular Sciences, 2023 Mutations in the COL7A1 gene lead to malfunction, reduction or complete absence of type VII collagen (C7) in the skin’s basement membrane zone (BMZ), impairing skin integrity.
Johannes Bischof +2 more
exaly +2 more sources
Molecular Therapy, 2022 Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. From 36 Korean RDEB patients,
Sung-Ah Hong +2 more
exaly +3 more sources
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Human Mutation, 2011
Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.
Wertheim-Tysarowska, Katarzyna +7 more
openaire +2 more sources
Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.
Wertheim-Tysarowska, Katarzyna +7 more
openaire +2 more sources
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa [PDF]
Molecular Therapy, 2017 Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type ...
Stefan Hainzl +2 more
exaly +3 more sources
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa
British Journal of Dermatology, 2007 open
S -C Kim
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Exclusion of COL7A1 mutation in Kindler syndrome
Journal of the American Academy of Dermatology, 2002We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.
Yasukawa, K. +4 more
openaire +5 more sources
Novel and recurrent COL7A1 mutation in a Polish population
European Journal of Dermatology, 2012Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis. DEB is inherited in an autosomal recessive and dominant manner, depending on the mutation type and localization.
Katarzyna, Wertheim-Tysarowska +9 more
openaire +2 more sources