Results 91 to 100 of about 27,311 (150)

A Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Due to Integrin β4 Gene Mutations

, 2019
Junctional epidermolysis bullosa with pyloric atresia is a rare bullous disease with autosomal recessive inheritance caused byabnormalities in the integrin α6 (ITGA6) or integrin β4 (ITGB4) gene. Its clinical symptoms range from mild to fatal.
Hiroyuki Matsuzaki, Nagisa Yoshihara, Hajime Nakano, Takashi Etoh, Daisuke Sawamura, Asami Kamata   +5 more
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“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 more
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Dystrophic Epidermolysis Bullosa

, 2018
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Shumneva Shrestha, Sanjay Kumar Gupta, Randhir Sagar Yadav, Upama Paudel, Amar Jayswal   +4 more
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Epidermolysis bullosa simplex: A case report

Nigerian Journal of Paediatrics
Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion.1 It consists of a group of conditions that cause the skin to be fragile and blister easily.
Peterside O, Kunle-Olowu OE , Adeyemi OO , Akinbami FO, Omene J   +4 more
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Epidermolysis Bullosa - A Report Of Two Cases

, 2002
Epidermolysis bullosa is a group of rare dermal diseases characterized by hereditary and nonhereditary vesicular disorders of skin and mucous membranes that result from trauma or heat.
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Dystrophic epidermolysis bullosa: a review

, 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
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Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice. [PDF]

PLoS One, 2023
Sproule TJ, Wilpan RY, Low BE, Silva KA, Reyon D, Joung JK, Wiles MV, Roopenian DC, Sundberg JP.   +8 more
europepmc   +1 more source

Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. [PDF]

Biomolecules, 2023
Tartaglia G, Park PH, Alexander MH, Nyström A, Rosenbloom J, South AP.   +5 more
europepmc   +1 more source

Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation

Read-through therapy suppresses premature termination codons and induces read-through activity, consequently restoring missing proteins. Aminoglycosides are widely studied as read-through drugs in different human genetic disorders, including hereditary ...
Has, Cristina, Sayar, Saliha Beyza
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Update on Approved Therapies for Dystrophic and Junctional Epidermolysis Bullosa. [PDF]

Pediatr Dermatol
Pappalardo A, Eid E, Olsen RC, Bush SE, Eichenfield LF, Buethe MG.   +5 more
europepmc   +1 more source