Results 71 to 80 of about 13,589 (213)

The puzzling effect of disease severity on quality of life in epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Vinzenz Hübl, Sophie Strobl, Gudrun Salamon, Cristina Has, on behalf of the BUR‐EB Study Group   +4 more
wiley   +1 more source

Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report

Journal of Cardiothoracic Surgery
Background Junctional epidermolysis bullosa is a rare skin and mucosal disorder characterized by blister formation in response to minor trauma and extracutaneous manifestations.
Kazufumi Yoshida, Soshi Yoshida, Yoshimasa Hori, Hideki Tsubota, Ryosuke Mochizuki, Tohru Nagano, Tadaaki Koyama   +6 more
doaj   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, Volume 5, Issue 2, Page 640-643, June 2026.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Promotion of DFU Wound Healing via BRG1–COL16A1 Axis in Fibroblasts

Advanced Science, Volume 13, Issue 26, 8 May 2026.
In normal wound healing, transcription factor BRG1 is upregulated and binds the COL16A1 promoter to enhance its expression, promoting fibroblast proliferation, migration, contraction, extracellular matrix deposition, and granulation tissue formation, thus accelerating wound closure.
Penghui Wang, Jiaming Sun, Ying Wang, Bichen Ren, Yuxin Liu, Yunhan Liu, Liang Chen, Lu Yu, Tao Dai, Li Yu, Zhihui Dong   +10 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases

Alʹmanah Kliničeskoj Mediciny, 2019
Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population.
Yu. Yu. Kotalevskaya, N. M. Marycheva
doaj   +1 more source

Bruton tyrosine kinase (Btk) in neutrophils is indispensable for initiating and maintaining skin inflammation in a model of pemphigoid diseases

British Journal of Pharmacology, Volume 183, Issue 10, Page 2446-2463, May 2026.
Background and Purpose Bruton tyrosine kinase (Btk) is essential for B cell function. Its role in myeloid cells is less understood. Greater insights into Btk significance in myeloid cells are needed to evaluate its potential as a therapeutic target during the effector phase of antibody‐induced autoimmune diseases, where inhibiting autoantibody ...
Henning Olbrich, Paul Schilf, Sripriya Murthy, Sina Gonther, Mareike Neumann, Christoph M. Hammers, Jasper N. Pruessmann, Christian D. Sadik   +7 more
wiley   +1 more source

EPIDERMOLYSIS BULLOSA HEREDITARIA: A DERMATOLOGIST‘S PERSPECTIVE AND NEWLY TREATMENT APPROACHES

Slovenska pediatrija
Epidermolysis bullosa is a genetically inherited disorder characterized by extreme skin fragility. Mutations in at least 20 different genes have been identified, leading to structural or functional abnormalities or the absence of proteins involved in the
Olga Točkova
doaj   +1 more source

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

The Application of Clinical Genetics, 2021
Sang Trieutien,1,* Tam Vu Van,2,3,* My Tran Ngoc Thao,4 Son Trinh The,5 Khoa Tran Van,1 Tung Nguyen Thanh,5 Tuan Tran Van,5 Hanh Nguyen Thi6 1Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam ...
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H   +7 more
doaj  

Extracellular Matrix Origin Directs Morphogenesis and Gene Regulation in Bioengineered Human Skin

Advanced Healthcare Materials, Volume 15, Issue 15, 17 April 2026.
Fibroblast‐driven production of endogenous extracellular matrix is shown to be essential for guiding transcriptional programs and morphogenesis in biofabricated human skin equivalents. Constructs relying on native, cell‐produced ECM support physiological dermo‐epidermal junction formation and tissue architecture, whereas exogenous matrices promote ...
Francesco Galardo, Giorgia Imparato, Costantino Casale, Francesco Urciuolo, Luca Mannino, Antonio Federico, Dario Greco, Paolo Antonio Netti   +7 more
wiley   +1 more source