Results 151 to 160 of about 81,034 (193)

Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report. [PDF]

Exp Ther Med
Liu L, Lu Q, Luo H, Yu C.
europepmc   +1 more source

Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells. [PDF]

Mol Ther
Cattaneo C, Enzo E, De Rosa L, Sercia L, Consiglio F, Forcato M, Bicciato S, Paiardini A, Basso G, Tagliafico E, Paganelli A, Fiorentini C, Magnoni C, Latella MC, De Luca M.   +14 more
europepmc   +1 more source

Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy. [PDF]

JAAD Case Rep, 2019
Grilletta EA.
europepmc   +1 more source

Epidermolysis Bullosa Simplex (Koebner).

Skin research, 1992
Gondou, Mika, Yamada, Hidekazu, Kusuda, Shigeru, Saeki, Mitsuyoshi, Tezuka, Tadashi, Habukawa, Chizu, Aya, Naofumi, Maki, Sunao   +7 more
openaire   +1 more source

Alterations in Gut Microbiome Diversity and Composition in Patients with Epidermolysis Bullosa: A Case-Control Study. [PDF]

Indian J Dermatol
Widhiati S, Soebono H, Purnomosari D, Wibawa T.   +3 more
europepmc   +1 more source

Keratins and epidermolysis bullosa simplex [PDF]

Journal of Cellular Physiology, 2018
Keratin intermediate filaments play an important role in maintaining the integrity of the skin structure. Understanding the importance of this subject is possible with the investigation of keratin defects in epidermolysis bullosa simplex (EBS). Nowadays, in addition to clinical criteria, new molecular diagnostic methods, such as next generation ...
Pouria Khani, Farideh Ghazi, Ali Zekri, Farzad Nasri, Elham Behrangi, Arad Mobasher Aghdam, Hamed Mirzaei   +6 more
openaire   +3 more sources

Epidermolysis bullosa simplex with mottled pigmentation

Journal of the American Academy of Dermatology, 1989
A patient with epidermolysis bullosa simplex with mottled pigmentation is described. Clinical features include blistering of the skin, especially of the extremities; healing without scars; slight atrophy of the skin; and striking mottled pigmentation of the trunk.
Bruckner-Tuderman L, Vogel A, Rüegger S, Odermatt B, Tönz O, Schnyder UW   +5 more
openaire   +4 more sources

Epidermolysis bullosa simplex [PDF]

In this presentation, I explore the pathogenesis and current research of Epidermolysis Bullosa Simplex (EBS) through background literature, images, and studies.
Soares, Alexandra, Angwah, Glenpauwel, Van Blaricom, Kyle, Aliyazdi, Sepideh   +3 more
openaire   +2 more sources

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Epidermolysis Bullosa Simplex

1998
The term “epidermolysis bullosa” (EB) was first introduced by Koebner in the late 19th century to describe a nonscarring, blistering skin disease. The name was subsequently adopted for a group of heterogenous congenital disorders that are all characterized by trauma-induced blistering of skin.
Yiu-Mo Chan, Elaine Fuchs
openaire   +1 more source

Epidermolysis Bullosa Simplex with Muscular Dystrophy

Dermatologic Clinics, 2010
Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by separation of the epidermis from the underlying dermis, with the cleavage plane lying within the basal-cell layer of the epithelium. The major clinical subtypes of EBS have a dominant inheritance and have been associated with genetic defects in specific domains of ...
C, Chiavérini, A, Charlesworth, G, Meneguzzi, J P, Lacour, J P, Ortonne   +4 more
openaire   +2 more sources