Results 11 to 20 of about 20,628 (210)

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

Frontiers in Immunology, 2022
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures that attach the epidermis to the dermal extracellular matrix.
Franziska Schauer, Alexander Nyström, Manfred Kunz, Stefanie Hübner, Sarah Scholl, Ioannis Athanasiou, Svenja Alter, Judith Fischer, Cristina Has, Dimitra Kiritsi   +9 more
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Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model

JID Innovations, 2023
Recessive dystrophic epidermolysis bullosa is a debilitating blistering skin disorder caused by loss-of-function mutations in COL7A1, which encodes type VII collagen, the main component of anchoring fibrils at the dermal−epidermal junction.
Gaetano Naso, Soragia Athina Gkazi, Christos Georgiadis, Vignesh Jayarajan, Joanna Jacków, Roland Fleck, Leanne Allison, Olumide Kayode Ogunbiyi, John Alexander McGrath, Dusko Ilic, Wei-Li Di, Anastasia Petrova, Waseem Qasim   +12 more
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Medical cell technologies for treatment of patients suffering from recessive dystrophic epidermolysis bullosa. Method of intracutaneous administration of fibroblasts

Vestnik Dermatologii i Venerologii, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited disease developing due to genetic abnormalities in the synthesis of Type VII collagen by fibroblasts.
V. I. Albanova, A. E. Karamova, V. V. Chikin, A. A. Mineyeva   +3 more
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Dystrophic epidermolysis bullosa: genotype-phenotype correlations [PDF]

Vestnik Dermatologii i Venerologii, 2023
Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic ...
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. karamova   +2 more
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Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

Molecular Therapy: Nucleic Acids, 2016
The “generalized severe” form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes
Jeroen Bremer, Olivier Bornert, Alexander Nyström, Antoni Gostynski, Marcel F Jonkman, Annemieke Aartsma-Rus, Peter C van den Akker, Anna MG Pasmooij   +7 more
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A Case of Systemic Lupus Erythematosus with Cutaneous Leukocytoclastic Vasculitis Mimicking Bullous SLE

Case Reports in Dermatology, 2021
Rarely, patients with systemic lupus erythematosus (SLE) develop bullous eruptions, a disease called bullous SLE in a narrow sense that has autoantibodies against type VII collagen.
Fumi Miyagawa, Kohei Ogawa, Takashi Hashimoto, Hideo Asada   +3 more
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Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.

PLoS ONE, 2015
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility.
Stephen A Watt, Jasbani H S Dayal, Sheila Wright, Megan Riddle, Celine Pourreyron, James R McMillan, Roy M Kimble, Marco Prisco, Ulrike Gartner, Emma Warbrick, W H Irwin McLean, Irene M Leigh, John A McGrath, Julio C Salas-Alanis, Jakub Tolar, Andrew P South   +15 more
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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
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Generation of rabbit polyclonal human and murine collagen VII monospecific antibodies: A useful tool for dystrophic epidermolysis bullosa therapy studies

Matrix Biology Plus, 2019
High conservation of extracellular matrix proteins often makes the generation of potent species-specific antibodies challenging. For collagen VII there is a particular preclinical interest in the ability to discriminate between human and murine collagen ...
Olivier Bornert, Thomas Kocher, Christine Gretzmeier, Bernadette Liemberger, Stefan Hainzl, Ulrich Koller, Alexander Nyström   +6 more
doaj   +1 more source

The role of IgE-receptors in IgE-dependent airway smooth muscle cell remodelling. [PDF]

PLoS ONE, 2013
BACKGROUND: In allergic asthma, IgE increases airway remodelling but the mechanism is incompletely understood. Airway remodelling consists of two independent events increased cell numbers and enhanced extracellular matrix deposition, and the mechanism by
Michael Roth, Jun Zhong, Celine Zumkeller, Chong Teck S'ng, Stephanie Goulet, Michael Tamm   +5 more
doaj   +1 more source