Results 41 to 50 of about 9,316 (182)

Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 9, Page 1084-1091, September 2025.
Summary Background and Objective Junctional epidermolysis bullosa (JEB) is a subtype of epidermolysis bullosa caused by mutations in the LAMB3 gene. We treated a patient with JEB using genetically corrected autologous epidermal cultures retrovirally transduced with the functional LAMB3 gene sequence.
Alexander Dermietzel, Burcu Tosun, Mathilde Nguyen, Kai Wessel, Luise Rauer, Avidan U. Neumann, Tobias Hirsch, CK‐CARE study group, Claudia Traidl‐Hoffmann, Matthias Reiger, Claudia Hülpüsch, Maximilian Kueckelhaus   +11 more
wiley   +1 more source

Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

Molecular Genetics &Genomic Medicine, Volume 7, Issue 6, June 2019., 2019
This study aims to demonstrate the performance characteristics of NGS in a pediatric setting. Various NGS tests were performed for 98 unrelated Chinese pediatric patients within the first year of life, who were admitted to Xin Hua Hospital affiliated with Shanghai Jiao Tong University School of Medicine, during a 2‐year period.
Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu   +7 more
wiley   +1 more source

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil

Anais Brasileiros de Dermatologia
Background Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.
Chan I. Thien, Vanessa Rolim Bessa, Isadora Zago Miotto, Luciana Paula Samorano, Maria Cecília Rivitti-Machado, Zilda Najjar Prado de Oliveira   +5 more
doaj   +1 more source

Light and transmission electron microscopy of generalized dystrophic epidermolysis bullosa (Pasini's albopapuloid subtype) Microscopia óptica e eletrônica de transmissão da epidermólise bolhosa distrófica generalizada (subtipo albo-papulóide de Pasini)

Anais Brasileiros de Dermatologia, 2012
Pasini's albopapuloid epidermolysis bullosa is a very rare subtype of generalized dystrophic dominant epidermolyis bullosa. A 30 year-old white female patient presented since her childhood disseminated small blisters and papules.
Hiram Larangeira de Almeida Jr, Lísia Nudelmann, Nara Moreira Rocha, Luis Antonio Suita de Castro   +3 more
doaj   +1 more source

Analyse des Hautmikrobioms eines an junktionaler Epidermolysis bullosa erkrankten Patienten nach Behandlung mit genetisch modifizierten Stammzellen

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 9, Page 1084-1093, September 2025.
ZUSAMMENFASSUNG Hintergrund und Ziel Die junktionale Epidermolysis bullosa (JEB) ist eine Unterform der Epidermolysis bullosa, einer Erkrankung, die durch eine Mutation im LAMB3‐Gen verursacht wird. Wir behandelten einen Patienten mit JEB mit genetisch korrigierten autologen epidermalen Kulturen unter Verwendung eines retroviralen Vektors, der die ...
Alexander Dermietzel, Burcu Tosun, Mathilde Nguyen, Kai Wessel, Luise Rauer, Avidan U. Neumann, Tobias Hirsch, CK‐CARE study group, Claudia Traidl‐Hoffmann, Matthias Reiger, Claudia Hülpüsch, Maximilian Kueckelhaus   +11 more
wiley   +1 more source

Differentially Expressed Genes Extracted by the Tensor Robust Principal Component Analysis (TRPCA) Method

Complexity, Volume 2019, Issue 1, 2019., 2019
In the big data era, sequencing technology has produced a large number of biological sequencing data. Different views of the cancer genome data provide sufficient complementary information to explore genetic activity. The identification of differentially expressed genes from multiview cancer gene data is of great importance in cancer diagnosis and ...
Yue Hu, Jin-Xing Liu, Ying-Lian Gao, Sheng-Jun Li, Juan Wang, Danilo Comminiello   +5 more
wiley   +1 more source

Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa

Pediatric Dermatology, Volume 42, Issue 5, Page 1008-1015, September/October 2025.
ABSTRACT Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by extreme skin fragility, leading to recurrent blistering and significant impacts on patients' quality of life. A bibliometric analysis of the 50 most‐cited EB articles from the past six decades reveals that the majority of research focuses on understanding EB ...
Evelyn F. Fagan, Jennifer M. Fernandez, Joseph T. McGrath, Erin X. Wei, Mollie Oudenhoven   +4 more
wiley   +1 more source

Suprathel®‐assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient

International Wound Journal, Volume 11, Issue 5, Page 472-475, October 2014., 2014
Abstract Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients.
Elif Sari, Tolga Eryilmaz, Gulsum Tetik, Hulda R Ozakpinar, Esabil Eker   +4 more
wiley   +1 more source

Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica

International Wound Journal, Volume 11, Issue 3, Page 274-277, June 2014., 2014
Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases.
Mazin G Bafaraj, Elvir Cesko, Maren Weindorf, Joachim Dissemond   +3 more
wiley   +1 more source

Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy Variabilidade clínica em epidermólise bolhosa distrófica e achados de microscopia eletrônica de varredura

Anais Brasileiros de Dermatologia, 2012
In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss.
Hiram Larangeira de Almeida Jr, Luciane Maria Alves Monteiro, Fernanda Mendes Goetze, Ricardo Marques e Silva, Nara Moreira Rocha   +4 more
doaj   +1 more source