Results 41 to 50 of about 23,288 (156)

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

Molecular Therapy: Nucleic Acids, 2016
Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription ...
Cristina Chamorro, Angeles Mencía, David Almarza, Blanca Duarte, Hildegard Büning, Jessica Sallach, Ingrid Hausser, Marcela Del Río, Fernando Larcher, Rodolfo Murillas   +9 more
doaj   +1 more source

Pretibial dystrophic epidermolysis bullosa [PDF]

Anais Brasileiros de Dermatologia, 2017
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main ...
Elisabeth de Albuquerque Cavalcanti Callegaro, Flavio Nappi, Rosana Lazzarini, Rute Facchini Lellis   +3 more
doaj   +1 more source

The hinge region of type VII collagen is intrinsically disordered

Matrix Biology, 2014
Type VII collagen (Col7) is important for skin integrity. As a major component of the anchoring fibrils, Col7 is essential for linking different skin layers together. The central collagenous domain of Col7 contains several interruptions of the collagen triple helix.
Richer, Barbara Christine, Seeger, Karsten   +1 more
openaire   +2 more sources

A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair

Molecular Therapy: Nucleic Acids, 2016
RNA trans-splicing represents an auspicious option for the correction of genetic mutations at RNA level. Mutations within COL7A1 causing strong reduction or absence of type VII collagen are associated with the severe skin blistering disease dystrophic ...
Patricia Peking, Ulrich Koller, Stefan Hainzl, Sophie Kitzmueller, Thomas Kocher, Elisabeth Mayr, Alexander Nyström, Thomas Lener, Julia Reichelt, Johann W Bauer, Eva M Murauer   +10 more
doaj   +1 more source

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Italian Journal of Pediatrics, 2012
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B.
Melis Daniela, Cappuccio Gerarda, Ginocchio Virginia, Minopoli Giorgia, Valli Maurizia, Corradi Massimiliano, Andria Generoso   +6 more
doaj   +1 more source

Autoimmunity against type VII collagen in inflammatory bowel disease [PDF]

Journal of Cellular and Molecular Medicine, 2009
Abstract Introduction The autoantigen: type VII collagen Autoimmunity to type VII collagen Inflammatory bowel disease Autoimmune phenomena in IBD Association of IBD with autoimmune diseases Autoimmunity to type VII collagen in IBD Autoimmunity against type VII collagen and EBA show a strong association with IBD Sequence of occurrence of skin ...
Hundorfean, Gheorghe, Neurath, Markus F, Sitaru, Cassian   +2 more
openaire   +2 more sources

The Role of Fibroblasts in Dystrophic Epidermolysis Bullosa Pathogenesis and Current Treatment Approaches

JID Innovations
Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disease characterized by the loss or dysfunction of collagen VII, predisposing patients to dermal–epidermal separation.
Alexander Nyström, Celine Pattaroni, Johannes S. Kern   +2 more
doaj   +1 more source

Spontaneous internal carotid artery dissection in dystrophic bullous epidermolysis - association or determinant factor? [PDF]

Romanian Journal of Neurology, 2010
Pathogenesis of spontaneous carotid artery dissection (sCAD) is still a domain of research. Classical inherited connective tissue disease, primary or systemic arteriopathies and ultrastructural alterations of the arterial wall were reported in sCAD.
Alexandra Comanescu, Monica Sabau
doaj   +1 more source

Dystrophic epidermolysis bullosa: a review

Clinical, Cosmetic and Investigational Dermatology, 2015
Satoru Shinkuma Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan Abstract: Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII ...
Shinkuma S
doaj  

Accelerated Type VII collagen turnover in systemic sclerosis patients, reflected by serological neo-epitope fragment biomarkers

Arthritis Research & Therapy
Background Systemic sclerosis (SSc) is a rare autoimmune disease characterized by microvasculopathy, autoantibody production, and fibrosis of the skin and internal organs.
Yi He, Jannie M B Sand, Satoshi Kubo, Naoaki Ohkubo, Yusuke Miyazaki, Morten Karsdal, Yoshiya Tanaka, Anne-Christine Bay-Jensen   +7 more
doaj   +1 more source