Results 121 to 130 of about 4,117 (196)

A PepFect14 analog improves non-viral CRISPR delivery in primary human cells to facilitate genome editing and repair. [PDF]

Bioeng Transl Med
du Rand A, Masterson C, Verdon D, Siow A, Loef E, Dunbar R, Kingston R, Harris P, Sheppard H.   +8 more
europepmc   +1 more source

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

Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis [PDF]

application/pdfDystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A] gene encoding type VII collagen. DEB is clinically characterized by mucocutaneous blistering in response to minor trauma.
Murai, Takaya, Nakano, Hajime, Hashimoto, Isao, Sawamura, Daisuke, Tamai, Katsuto, Hanada, Katsumi   +5 more
core  

From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa. [PDF]

Int J Mol Sci
Tsvetkova M, Dimitrova T, Yaneva G.
europepmc   +1 more source

213 Epidermolysis bullosa acquisita in a patient with biallelic COL7A1 mutations [PDF]

Journal of Investigative Dermatology, 2017
L. Guerra, G. Zambruno, P. Fortugno, A. Salemme, B. Didona, G. Di Zenzo, D. Castiglia   +6 more
openaire   +1 more source

Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with <i>COL7A1</i>, <i>CARD14</i>, and <i>G6PD</i> gene mutations. [PDF]

Front Med (Lausanne)
Li H, Zhang Y, Lin X, Yan T, Wu X, Zhang Z.   +5 more
europepmc   +1 more source

Neonatal Skin Blistering and Denudement Caused by Epidermolysis Bullosa. [PDF]

Cureus
Folkert G, Aggarwal A, Douvoyiannis M.
europepmc   +1 more source

Revisiting Type VII Collagen Mislocalisation in Dystrophic Epidermolysis Bullosa Using High-Resolution Imaging. [PDF]

Exp Dermatol
Watanabe M, Watanabe K, Shinkuma S, Ujiie H, Natsuga K.   +4 more
europepmc   +1 more source

Epidermolysis bullosa acquisita in a patient with biallelic COL7A1 mutations [PDF]

, 2017
openaire   +1 more source

Epidermolysis Bullosa Classification and Current Approach to Diagnosis. [PDF]

Pediatr Dermatol
Mumber HE, Perman MJ.
europepmc   +1 more source