Results 21 to 30 of about 81,034 (193)

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. [PDF]

J Vet Intern Med, 2020
A 6-day-old Belgian Blue-Holstein calf was referred because of a syndrome resembling epidermolysis bullosa simplex (EBS). The clinical phenotype included irregular and differently sized erosions and ulcerations spread over the body, in particular on the ...
Jacinto JGP, Häfliger IM, Veiga IMB, Drögemüller C, Agerholm JS.   +4 more
europepmc   +3 more sources

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur   +4 more
doaj   +1 more source

Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]

Anais Brasileiros de Dermatologia, 2020
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma.
Luiza Monteavaro Mariath, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski   +3 more
doaj   +1 more source

Severe generalized junctional epidermolysis bullosa in a newborn

GAIMS Journal of Medical Sciences, 2021
Epidermolysis Bullosa (EB) is a group of inherited skin fragility disorders. It characteristically presents as blisters formation over skin and mucosa. Epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa ...
Rekha Thaddanee, Kinjal Patel, Aishwarya Ramani   +2 more
doaj   +1 more source

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype [PDF]

Journal of Experimental Medicine
Uri Ashery, Stefan Hainzl, Verena Wally   +2 more
exaly   +2 more sources

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives [PDF]

International Journal of Molecular Sciences
Catherine Laprise, Anne-Marie Boucher-Lafleur   +1 more
exaly   +2 more sources

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. [PDF]

Anim Genet, 2022
Epidermolysis bullosa (EB) is a group of blistering disorders that includes several subtypes, classified according to their level of cleavage. Typical clinical signs are blisters and erosions resulting from minimal trauma.
Kiener S, Mauldin EA, Jagannathan V, Casal ML, Leeb T.   +4 more
europepmc   +3 more sources

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Acta Dermato-Venereologica, 2021
Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10–25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing.
Yueqian Yu, Zhenzhen Wang, Zihao Mi, Lele Sun, Xi'an Fu, Gongqi Yu, Zheng Pang, Hong Liu, Furen Zhang   +8 more
doaj   +1 more source

A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn [PDF]

Neonatal Medicine, 2022
Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type.
Gahyun Hong, Minsun Choi
doaj   +1 more source

A Drosophila Model of Epidermolysis Bullosa Simplex [PDF]

Journal of Investigative Dermatology, 2015
The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes, encoding the intermediate filament (IF) network of basal epidermal keratinocytes. The mechanisms governing keratin network formation and collapse due to EBS mutations remain incompletely understood.
Bohnekamp, Jens, Cryderman, Diane E., Paululat, Achim, Baccam, Gabriel C., Wallrath, Lori L., Magin, Thomas M.   +5 more
openaire   +2 more sources