Results 101 to 110 of about 2,415 (163)

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex. [PDF]

Postepy Dermatol Alergol, 2021
Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, Woźniak K, Kowalewski C.   +7 more
europepmc   +1 more source

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype. [PDF]

J Exp Med
Bergson S, Sarig O, Giladi M, Mohamad J, Mogezel-Salem M, Smorodinsky-Atias K, Sade O, Manori B, Assaf S, Malovitski K, Feller Y, Pavlovsky M, Hainzl S, Kocher T, Hummel JI, Eretz Kdosha N, Khair LG, Zauner R, Pinon Hofbauer J, Shalom-Feuerstein R, Wally V, Koller U, Samuelov L, Haitin Y, Ashery U, Rubinstein R, Sprecher E.   +26 more
europepmc   +1 more source

Two missense mutations in Dystonin lead to epidermolysis bullosa simplex complicated with lepromatous leprosy: a case report. [PDF]

AME Case Rep
Al-Quran L, Cai G, Chen R, Chen Y.
europepmc   +1 more source

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the <i>DST</i> gene: the first Italian case and literature review. [PDF]

Dermatol Reports
Diociaiuti A, Zingarelli RD, D'Urso DF, Zambruno G, El Hachem M.   +4 more
europepmc   +1 more source

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy. [PDF]

Hum Mol Genet, 2022
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG.   +13 more
europepmc   +1 more source

Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies. [PDF]

Acta Derm Venereol
Pironon N, Welfringer-Morin A, Leclerc-Mercier S, Bourrat E, Hovnanian A.   +4 more
europepmc   +1 more source

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

J Vet Intern Med, 2020
Jacinto JGP, Häfliger IM, Veiga IMB, Drögemüller C, Agerholm JS.   +4 more
europepmc   +1 more source

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

Int J Mol Sci
Bchetnia M, Powell J, McCuaig C, Boucher-Lafleur AM, Morin C, Dupéré A, Laprise C.   +6 more
europepmc   +1 more source

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex. [PDF]

Acta Derm Venereol, 2020
Tu WT, Chen PC, Hou PC, Huang HY, Wang JY, Chao SC, Lee JY, McGrath JA, Natsuga K, Hsu CK.   +9 more
europepmc   +1 more source

Advanced gene-editing strategy for epidermolysis bullosa simplex. [PDF]

Mol Ther
Sheriff A, Jacków-Malinowska J.
europepmc   +1 more source