Results 91 to 100 of about 36,363 (277)

Application of biomedical cell products in the treatment of congenital epidermolysis bullosa [PDF]

Vestnik Dermatologii i Venerologii
Congenital epidermolysis bullosa is a phenotypically and genetically heterogeneous group of genodermatoses, which are characterized by decreasing of skin’s structural protein production up to complete absence or violation of the structure as a result of ...
Arfenya E. Karamova, Kseniya M. Aulova, Vadim V. Chikin, Аlexey A. Kubanov   +3 more
doaj   +1 more source

Una mariposa diferente. Cuidados al niño con epidermólisis bullosa [PDF]

, 2016
Trabajo fin de grado en EnfermeríaIntroducción La Epidermólisis Bullosa, comúnmente conocida como la "enfermedad de la piel de mariposa", es una de las miles de enfermedades raras.
Perez Cruz, Sara
core  

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing

Molecular Therapy, 2019
Gene editing constitutes a novel approach for precisely correcting disease-causing gene mutations. Frameshift mutations in COL7A1 causing recessive dystrophic epidermolysis bullosa are amenable to open reading frame restoration by non-homologous end ...
J. Bonafont, A. Mencía, Marta García, Raúl Torres, Sandra Rodríguez, M. Carretero, E. Chacón-Solano, S. Modamio-Høybjør, Lucía Marinas, C. León, M. Escámez, I. Hausser, M. del Río, R. Murillas, F. Larcher   +14 more
semanticscholar   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Epidermolysis bullosa acquisita

Indian Journal of Dermatology, Venereology and Leprology, 2006
A 20 year old male started developing bubae following even minor trauma on the skin as well as the mucous membranes during the preceding 5 years. The bunae healed with atrophic scars. Involvement of the oral mucous membrane and the eyes, scpcially the right eye, was quite extensive and unusual.
Jayanta Kr, Das, Sujata, Sengupta, Asok Kr, Gangopadhyay   +2 more
openaire   +2 more sources

Cold cases in epidermolysis bullosa: not the usual suspects [PDF]

, 2018
De belangrijkste bevindingen van dit proefschrift waren de identificatie van de onderliggende genetische mutatie en karakterisatie van het klinische fenotype van onze 'cold case' patiënten met epidermolysis bullosa (EB) van het Nederlandse nationale EB ...
Turcan, Iana
core   +4 more sources

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations

Acta Dermato-Venereologica, 2018
Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been ...
Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia   +6 more
doaj   +1 more source

Bullous Dermolysis of the Newborn: Four New Cases and Clinical Review [PDF]

, 2013
Bullous dermolysis of the newborn ( BDN ) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation.
Radkevich‐brown, Olga, Shwayder, Tor
core   +1 more source

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

JCI Insight, 2019
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin.
S. Lwin, F. Syed, W. Di, T. Kadiyirire, Lu Liu, A. Guy, A. Petrova, A. Abdul‐Wahab, F. Reid, Rachel Phillips, Maria Elstad, C. Georgiadis, S. Aristodemou, P. Lovell, J. McMillan, J. Mee, S. Miskinyte, M. Titeux, L. Ozoemena, R. Pramanik, S. Serrano, R. Rowles, C. Maurin, E. Orrin, M. Martínez-Queipo, E. Rashidghamat, C. Tziotzios, A. Onoufriadis, Mei Chen, L. Chan, F. Farzaneh, M. del Río, J. Tolar, J. Bauer, F. Larcher, M. Antoniou, A. Hovnanian, A. Thrasher, J. Mellerio, W. Qasim, J. McGrath   +40 more
semanticscholar   +1 more source