Results 21 to 30 of about 3,777 (193)
Journal of the Formosan Medical Association, 2007 Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by fragility of the skin and mucous membranes caused by abnormal anchoring fibrils.
Sheau-Chiou Chao, Julia Yu-Yun Lee
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A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa [PDF]
Clinical and Experimental Dermatology, 2004 Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset.
Chuang, G. S. +6 more
openaire +4 more sources
Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa. [PDF]
PLoS ONE, 2012 Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal ...
Ying Lin +13 more
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Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
Molecular Genetics & Genomic Medicine, 2020 Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐
Neng Yang +6 more
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ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation
Scientific Reports, 2022 Base editing introduces precise single-nucleotide edits in genomic DNA and has the potential to treat genetic diseases such as the blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by mutations in the ...
Adam Sheriff +18 more
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle [PDF]
BMC Genetics, 2016 Abstract Background The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and
Hubert Pausch +6 more
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CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa [PDF]
Cell Journal, 2023 Objective: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility and ultimately lethal blisteringdisease caused by mutations in the COL7A1 gene which is responsible for coding type VII collagen.
Farzad Alipour +5 more
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PLoS ONE, 2017 A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species.
Julia Niskanen +6 more
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Dystrophic epidermolysis bullosa: genotype-phenotype correlations [PDF]
Vestnik Dermatologii i Venerologii, 2023 Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic ...
Alexey A. Kubanov +2 more
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Molecular Therapy: Methods & Clinical Development, 2023 Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal monogenic skin disease caused by mutations in COL7A1 gene and lack of functional type VII collagen (C7).
Xianqing Wang +8 more
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