Results 21 to 30 of about 4,117 (196)
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
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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
doaj +3 more sources
A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib [PDF]
Clinical, Cosmetic and Investigational DermatologyShuqin Lai,* Chunli Lin,* Zimeng Guo, Yun Lai, Ling Xie, Chunlei Wan, Tao Yang, Longnian Li Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical
Lai S +7 more
doaj +1 more source
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
doaj +2 more sources
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
openaire +8 more sources
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
doaj +1 more source
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. [PDF]
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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Case Reports in Nephrology and Dialysis, 2023 Long-term inflammation and recurrent skin infection in recessive dystrophic epidermolysis bullosa (RDEB) are associated with the presence of immunoglobulin A (IgA)-containing immune complexes in the glomerulus.
Cahyani Gita Ambarsari +5 more
doaj +1 more source
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
doaj +1 more source
A rare homozygous missense mutation of COL7A1 in a Vietnamese family
Human Genome Variation, 2022 Abstract We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family.
Nguyễn Thùy Dương +6 more
openaire +3 more sources