Generation of the induced pluripotent stem cell line (ZSPHARi001-A) from a patient with recessive dystrophic epidermolysis bullosa carrying compound heterozygous mutation in the COL7A1 gene.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102672
Abstract: 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 serious… read more here.
Keywords: col7a1; col7a1 gene; stem; mutation ... See more keywords
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
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DOI: 10.1097/mcd.0000000000000229
Abstract: Introduction Autosomal recessive dystrophic epidermolysis bullosa (DEB) (MIM 222600) is a very rare skin fragility disease characterized by blistering and erosion of the skin. In addition, patients present corneal abrasion, enamel hypoplasia, joint contractures, alopecia,… read more here.
Keywords: dystrophic epidermolysis; col7a1; recessive dystrophic; epidermolysis bullosa ... See more keywords
Identification of novel enriched recurrent chimeric COL7A1-UCN2 in human laryngeal cancer samples using deep sequencing
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DOI: 10.1186/s12885-018-4161-8
Abstract: BackgroundAs hybrid RNAs, transcription-induced chimeras (TICs) may have tumor-promoting properties, and some specific chimeras have become important diagnostic markers and therapeutic targets for cancer.MethodsWe examined 23 paired laryngeal cancer (LC) tissues and adjacent normal mucous… read more here.
Keywords: col7a1; laryngeal cancer; identification novel; enriched recurrent ... See more keywords
Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.847150
Abstract: Epidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in… read more here.
Keywords: skin; congenital absence; epidermolysis bullosa; obstruction ... See more keywords
5′RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa
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DOI: 10.3390/ijms23031732
Abstract: Mutations within the COL7A1 gene underlie the inherited recessive subtype of the blistering skin disease dystrophic epidermolysis bullosa (RDEB). Although gene replacement approaches for genodermatoses are clinically advanced, their implementation for RDEB is challenging and… read more here.
Keywords: col7a1; trans splicing; repair; epidermolysis bullosa ... See more keywords