Results 51 to 60 of about 36,363 (277)

Pflegeinterventionen bei Menschen mit Epidermolysis bullosa : zu den Schwerpunkten Schmerzmanagement, psychosoziale Aspekte und Wundmanagement im häuslichen Setting [PDF]

, 2018
Hintergrund: Epidermolysis bullosa (EB) ist ein Überbegriff von unheilbaren Hautkrankheiten, verursacht durch einen Gendefekt. In der fachlichen Beratung, Betreuung und Begleitung von Menschen mit EB besteht ein grosses Wissensdefizit, was zu einer ...
Kaufmann, Aline, Meyer, Anna
core   +1 more source

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs [PDF]

, 2017
A rare hereditary mechanobullous disorder called epidermolysis bullosa (EB) causes blistering in the skin and the mucosal membranes. To date, nineteen EB-related genes have been discovered in human and other species.
Anttila, Marjukka, Arumilli, Meharji, Dillard, Kati, Hytonen, Marjo K., Lohi, Hannes, Niskanen, Julia, Salmela, Elina   +6 more
core   +2 more sources

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

Molecular Diagnosis & Therapy, 2020
Epidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress has been achieved in the development of molecular therapies in the last few decades.
C. Has, A. South, J. Uitto
semanticscholar   +1 more source

Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. [PDF]

PLoS ONE, 2013
Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone.
Alexander Nyström, Jens Buttgereit, Michael Bader, Tatiana Shmidt, Cemil Ozcelik, Ingrid Hausser, Leena Bruckner-Tuderman, Johannes S Kern   +7 more
doaj   +1 more source

Epidermolysis bullosa acquisita

Clinics in Dermatology, 2012
Epidermolysis bullosa acquisita (EBA) is a rare, acquired, chronic subepidermal bullous disease of the skin and mucosa characterized by autoantibodies to type VII collagen (C7) structures, a major component of anchoring fibrils, which attach the epidermis to the dermis.
Rishu, Gupta, David T, Woodley, Mei, Chen   +2 more
openaire   +3 more sources

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment [PDF]

, 2018
International audienceBACKGROUND: Epidermolysis bullosa simplex generalized severe is a genetic disorder caused by mutation in KRT5 or KRT14 genes. Usually considered as a mechanical disease, recent data argue for additional inflammatory mechanisms ...
Baty, D., Berard, F., Bessis, D., Bourrat, E., Castela, E., Chiaverini, C., Kanitakis, J., Lacour, J.-P., Mazereeuw, J., Morice-Picard, F., Nicolas, J.-F., Passeron, T., Rozières, A., Tulic, M. K., Vabres, P.   +14 more
core   +4 more sources

Prevalence, pathophysiology and management of itch in epidermolysis bullosa *

British Journal of Dermatology, 2020
Epidermolysis bullosa (EB) is a highly diverse group of inherited skin disorders, resulting from mutations in genes encoding proteins of the dermoepidermal junction. Itch (pruritus) is one of the most common symptoms across all EB subtypes.
M. Papanikolaou, A. Onoufriadis, J. Mellerio, L. Nattkemper, Gil Yosipovitch, M. Steinhoff, M. Steinhoff, John A. McGrath   +7 more
semanticscholar   +1 more source

Engineering exosomal cargo loading via endogenous molecular pathways: Strategies to enhance therapeutic potential

Interdisciplinary Medicine, EarlyView.
This review illustrates how scientists engineer exosomes by hijacking the cell's own cargo‐sorting machinery. These strategies efficiently load therapeutic molecules into natural vesicles, creating powerful next‐generation drug delivery systems (Created with BioGDP.com).
Huanrong Zhu, Chenning Zhang, Shihan Ma, Zhanxue Xu, Cailing Liang, Fang Cheng, Hongbo Chen   +6 more
wiley   +1 more source

Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report

Journal of Plastic and Reconstructive Surgery, 2023
Epidermolysis bullosa is a group of inherited skin fragility disorders with blister formation in the basement membrane zone. Chronic scarring after repeated blistering of the hands causes narrowing of the first web, flexion contractures of the digits ...
Sayaka Nakamura, Susumu Saito, Yoshihiro Ishida, Yo Kaku, Ken Natsuga, Naoki Morimoto   +5 more
doaj  

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source