Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
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DOI: 10.1002/mgg3.1347
Abstract: Abstract 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‐of‐function… read more here.
Keywords: variants col7a1; dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa ... See more keywords
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.
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DOI: 10.1016/j.ad.2017.06.024
Abstract: Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen,… read more here.
Keywords: epidermolysis bullosa; pregnancy; dystrophic epidermolysis; recessive dystrophic ... See more keywords
A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American Academy of Dermatology"
DOI: 10.1016/j.jaad.2019.11.038
Abstract: BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen (C7). At present, treatment is mainly supportive. OBJECTIVE To determine whether intravenous allogeneic bone marrow-derived mesenchymal stromal/stem… read more here.
Keywords: intravenous allogeneic; label; recessive dystrophic; dystrophic epidermolysis ... See more keywords
Mesenchymal stromal cells in wound healing applications: role of the secretome, targeted delivery and impact on recessive dystrophic epidermolysis bullosa treatment.
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DOI: 10.1016/j.jcyt.2021.06.004
Abstract: Mesenchymal stromal cells (MSCs) are multi-potent stromal-derived cells capable of self-renewal that possess several advantageous properties for wound healing, making them of interest to the field of dermatology. Research has focused on characterizing the unique… read more here.
Keywords: wound healing; mesenchymal stromal; healing applications; recessive dystrophic ... See more keywords
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
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
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DOI: 10.1038/s41591-022-01737-y
Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1, the gene encoding the anchoring fibril component, collagen VII (C7). Here, we evaluated beremagene geperpavec… read more here.
Keywords: rdeb; recessive dystrophic; epidermolysis bullosa; dystrophic epidermolysis ... See more keywords
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review
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DOI: 10.1055/s-0043-1763257
Abstract: Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a severe subtype of epidermolysis bullosa caused by changes in collagen VII with a high risk of early development of cutaneous squamous cell carcinoma (cSCC). This review aimed… read more here.
Keywords: fibrosis; epidermolysis bullosa; dystrophic epidermolysis; recessive dystrophic ... See more keywords
Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa.
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DOI: 10.1097/j.pain.0000000000002599
Abstract: ABSTRACT Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition in which mutations in the type VII collagen gene (COL7A1) lead to decreased expression of this anchoring protein of the skin, causing the loss… read more here.
Keywords: epidermolysis bullosa; model; recessive dystrophic; dystrophic epidermolysis ... See more keywords
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Dysmorphology"
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
MicroRNA‐145‐5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Dermatology"
DOI: 10.1111/bjd.17840
Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disorder caused by mutations in the COL7A1 gene encoding type VII collagen, a cutaneous basement membrane component essential for epidermal–dermal adhesion. Hallmarks of the disease are… read more here.
Keywords: dystrophic epidermolysis; recessive dystrophic; skin; epidermolysis bullosa ... See more keywords
Fludarabine modulates expression of type VII collagen during haematopoietic stem cell transplantation for recessive dystrophic epidermolysis bullosa *
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Dermatology"
DOI: 10.1111/bjd.19757
Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a severe, complicated inherited blistering skin disease with few treatment options currently available. Recently, haematopoietic stem cell transplantation (HCT) has been used as an alternative therapy that can improve… read more here.
Keywords: recessive dystrophic; cell transplantation; dystrophic epidermolysis; stem cell ... See more keywords