Results 31 to 40 of about 3,777 (193)
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
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
Pharmacophore Based Drug Designing of COL7A1; The Causative Gene of Dystrophic Epidermolysis Bullosa
Bioscientific Review, 2021 Epidermolysis Bullosa (EB) is a rare genetic disorder that causes skin fragility, trauma induced dissociation of the skin and painful wound growth. More than 20 types of genes are involved in causing EB as it is a polygenic disease and each gene is ...
Yasra Fatima +9 more
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Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa [PDF]
Journal of Investigative Dermatology, 1998 Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations.
Kon, Atsushi +4 more
openaire +2 more sources
Keratinocyte-/Fibroblast-Targeted Rescue of Col7a1-Disrupted Mice and Generation of an Exact Dystrophic Epidermolysis Bullosa Model Using a Human COL7A1 Mutation [PDF]
The American Journal of Pathology, 2009 Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary bullous disease caused by mutations in COL7A1, which encodes type VII collagen (COL7). Col7a1 knockout mice (COL7(m-/-)) exhibit a severe RDEB phenotype and die within a few days after birth.
Kei, Ito +13 more
openaire +2 more sources
Frontiers in Pediatrics, 2022 BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly caused by mutations in the gene encoding type VII collagen (COL7A1).
Yu Wang +7 more
doaj +1 more source
Indian Journal of Dermatology, 2022 Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella +4 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2021 Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic diseases, such as the severe recessive dystrophic form of the blistering skin disease epidermolysis ...
Thomas Kocher +14 more
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Stem Cell Research, 2022 The COL7A1 gene mutation causes type VII collagen dysfunction, which subsequently leads to recessive dystrophic epidermolysis bullosa (RDEB). Patients who suffer from RDEB experience severe blisters and chronic trauma, which can eventually result in ...
Yeye Zhang +4 more
doaj +1 more source
A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
Clinical and Experimental Obstetrics & Gynecology, 2020 Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment.
Q. Yuan +4 more
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