A Novel Glycine Mutation in the Col7a1 Gene Leading to Dominant Dystrophic Epidermolysis Bullosa with Intra-Familial Phenotypical Heterogeneity

2009 ◽  
Vol 26 (1) ◽  
pp. 115-117 ◽  
Author(s):  
ELISABETH RIEDL ◽  
ALFRED KLAUSEGGER ◽  
JOHANN W. BAUER ◽  
DAGMAR FOEDINGER ◽  
HARALD KITTLER
Keyword(s):  
Epidermolysis Bullosa ◽  
Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene

Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa

2005 ◽  
Vol 338 (3) ◽  
pp. 1391-1401 ◽  
Author(s):  
Patrizia Posteraro ◽  
Monica Pascucci ◽  
Marina Colombi ◽  
Sergio Barlati ◽  
Alberto Giannetti ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene

scholarly journals Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

2021 ◽  
Vol 22 (23) ◽  
pp. 12774
Author(s):  
Xianqing Wang ◽  
Fatma Alshehri ◽  
Darío Manzanares ◽  
Yinghao Li ◽  
Zhonglei He ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Replacement ◽  
Epidermal Keratinocytes ◽  
Viral Gene ◽  
Cmv Promoter ◽  
Human Epidermal Keratinocytes ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in the COL7A1 gene that encodes type VII collagen (C7). The development of an efficient gene replacement strategy for RDEB is mainly hindered by the lack of vectors able to encapsulate and transfect the large cDNA size of this gene. To address this problem, our group has opted to use polymeric-based non-viral delivery systems and minicircle DNA. With this approach, safety is improved by avoiding the usage of viruses, the absence of bacterial backbone, and the replacement of the control viral cytomegalovirus (CMV) promoter of the gene with human promoters. All the promoters showed impressive C7 expression in RDEB skin cells, with eukaryotic translation elongation factor 1 α (EF1α) promoter producing higher C7 expression levels than CMV following minicircle induction, and COL7A1 tissue-specific promoter (C7P) generating C7 levels similar to normal human epidermal keratinocytes. The improved system developed here has a high potential for use as a non-viral topical treatment to restore C7 in RDEB patients efficiently and safely, and to be adapted to other genetic conditions.

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1992 ◽  
Vol 99 (5) ◽  
pp. 528-530 ◽  
Author(s):  
Nelleke A Gruis ◽  
Jan N Bouwes Bavinck ◽  
Peter M Steijlen ◽  
Jan G Van Der Schroeff ◽  
Arie Van Haeringen ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Genetic Linkage ◽  
Autosomal Dominant ◽  
Dominant Form ◽  
Dystrophic Epidermolysis Bullosa ◽  
Autosomal Dominant Form ◽  
Col7a1 Gene ◽  
Collagen Vii

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

2010 ◽  
Vol 59 (2) ◽  
pp. 136-140 ◽  
Author(s):  
Barbora Jeřábková ◽  
Lenka Kopečková ◽  
Hana Bučková ◽  
Karel Veselý ◽  
Jana Valíčková ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recurrent Mutations ◽  
Col7a1 Gene

scholarly journals A CASE REPORT OF AGGRESSIVE SQUAMOUS CELL CARCINOMA IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

2020 ◽  
Vol 66 (5) ◽  
pp. 556-562
Author(s):  
A. Kubanov ◽  
Arfenya Karamova ◽  
Vadim Chikin ◽  
Yekaterina Monchakovskaya ◽  
M. Nefedova
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Early Mortality ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Healing Wounds ◽  
Col7a1 Gene

Recessive dystrophic epidermolysis bullosa (RDEB) is an orphan genetic skin disease which is caused by mutations in COL7A1 gene. COL7A1 encodes collagen VII - a major component of anchoring fibrils which sustain the dermal-epidermal junction. Non-healing wounds typically are presented in patients with RDEB. They predispose cutaneous squamous cell carcinoma (SCC) development. RDEB-associated SCC is a rapidly growing tumor of aggressive nature which generally arises at young age and results in early mortality. This article reports 2 patients with RDEB-associated SCCs.

scholarly journals Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa

Cells ◽  
2020 ◽  
Vol 9 (9) ◽  
pp. 2108
Author(s):  
Tania Aguado ◽  
Marta García ◽  
Adela García ◽  
Gemma Ferrer-Mayorga ◽  
Lucía Martínez-Santamaría ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Clinical Manifestations ◽  
Functional Screening ◽  
Dystrophic Epidermolysis Bullosa ◽  
Receptor Modulator ◽  
Ecm Proteins ◽  
Therapeutic Value ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene ◽  
Tgf Β1

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by mutation of the COL7A1 gene. RDEB is associated with high levels of TGF-β1, which is likely to be involved in the fibrosis that develops in this disease. Endoglin (CD105) is a type III coreceptor for TGF-β1 and its overexpression in fibroblasts deregulates physiological Smad/Alk1/Alk5 signalling, repressing the synthesis of TGF-β1 and extracellular matrix (ECM) proteins. Raloxifene is a specific estrogen receptor modulator designated as an orphan drug for hereditary hemorrhagic telangiectasia, a rare vascular disease. Raloxifene stimulates endoglin synthesis, which could attenuate fibrosis. By contrast, the antioxidant N-acetylcysteine may have therapeutic value to rectify inflammation, fibrosis and endothelial dysfunction. Thus, we present here a repurposing strategy based on the molecular and functional screening of fibroblasts from RDEB patients with these drugs, leading us to propose the repositioning of these two well-known drugs currently in clinical use, raloxifene and N-acetylcysteine, to counteract fibrosis and inflammation in RDEB. Both compounds modulate the profibrotic events that may ultimately be responsible for the clinical manifestations in RDEB, suggesting that these findings may also be relevant for other diseases in which fibrosis is an important pathophysiological event.

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