Results 21 to 30 of about 23,288 (156)

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
doaj   +1 more source

Collagen VII plays a dual role in wound healing. [PDF]

J Clin Invest, 2013
Although a host of intracellular signals is known to contribute to wound healing, the role of the cell microenvironment in tissue repair remains elusive. Here we employed 2 different mouse models of genetic skin fragility to assess the role of the basement membrane protein collagen VII (COL7A1) in wound healing.
Nyström A, Velati D, Mittapalli VR, Fritsch A, Kern JS, Bruckner-Tuderman L.   +5 more
europepmc   +5 more sources

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
doaj   +1 more source

Childhood epidermolysis bullosa acquisita: Confirmation of diagnosis by skin deficient in Type VII Collagen, enzyme-linked immunosorbent assay, and immunoblotting

Indian Journal of Dermatology, 2016
Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disorder characterized by autoantibodies against Type VII collagen. It usually affects adults; childhood EBA is rare. We describe a 10-year-old girl presenting with recurrent tense
Nupur Goyal, Raghavendra Rao, C Balachandran, Sathish Pai, Balbir S Bhogal, Enno Schmidt, Detlef Zillikens   +6 more
doaj   +1 more source

Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease

Disease Models & Mechanisms, 2021
Heterozygous missense mutations in the human COL7A1 gene – coding for collagen VII – lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and
Blake R. C. Smith, Alexander Nyström, Cameron J. Nowell, Ingrid Hausser, Christine Gretzmeier, Susan J. Robertson, George A. Varigos, Cristina Has, Johannes S. Kern, Ken C. Pang   +9 more
doaj   +1 more source

Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases

BMC Immunology, 2012
Background Autoimmunity to collagen VII is typically associated with the skin blistering disease epidermolysis bullosa acquisita (EBA), but also occurs occasionally in patients with systemic lupus erythematosus or inflammatory bowel disease.
Licarete Emilia, Ganz Susanne, Recknagel Martin J, Di Zenzo Giovanni, Hashimoto Takashi, Hertl Michael, Zambruno Giovanna, Hundorfean Gheorghe, Mudter Jonas, Neurath Markus F, Bruckner-Tuderman Leena, Sitaru Cassian   +11 more
doaj   +1 more source

Sources of Collagen for Biomaterials in Skin Wound Healing

Bioengineering, 2019
Collagen is the most frequently used protein in the fields of biomaterials and regenerative medicine. Within the skin, collagen type I and III are the most abundant, while collagen type VII is associated with pathologies of the dermal−epidermal ...
Evan Davison-Kotler, William S. Marshall, Elena García-Gareta   +2 more
doaj   +1 more source

Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers

Frontiers in Genetics, 2021
The phenotypic presentation of monogenetic diseases is determined not only by the nature of the causative mutations but also is influenced by manifold cellular, microenvironmental, and external factors.
Alexander Nyström, Alexander Nyström, Leena Bruckner-Tuderman, Dimitra Kiritsi   +3 more
doaj   +1 more source

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
doaj   +1 more source

Collagen mRNA levels changes during colorectal cancer carcinogenesis

BMC Cancer, 2009
Background Invasive growth of epithelial cancers is a complex multi-step process which involves dissolution of the basement membrane. Type IV collagen is a major component in most basement membranes.
Tveit Kjell M, Lothe Inger MB, Anthonsen Dorit, Skovbjerg Hanne, Kure Elin H, Vogel Lotte K   +5 more
doaj   +1 more source