Results 71 to 80 of about 2,763 (196)

Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

International Journal of Women's Dermatology, 2016
Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and ...
Minhee Kim, MBBS, Swaranjali Jain, BMedSci(Hons), Adam G. Harris, MBChB, Dedee F. Murrell, MA, BMBCh, FAAD, MD, FACD, FRCP(Edin)   +3 more
doaj   +1 more source

Treatment of epidermolysis bullosa with human cultured epidermal allografts

, 1994
Junctional epidermolysis bullosa letalis type Herlitz Pearson is a genetically determined, life-threatening disease. Effective therapy has been lacking to date.
Ramet, José, De Raeve, Linda, Roseeuw, Diane, Dangoisse, Chantal   +3 more
core   +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

Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

, 1999
Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encoding laminin 5 (LAMA3, LAMB3, or LAMC2) usually result in clinically severe forms of recessive dystrophic or junctional epidermolysis bullosa, respectively.
Eady, Robin A.J., McGrath, John A., Ashton, Gabrielle H.S., Mellerio, Jemima E., Swensson, Ole, McMillan, James R., Salas-Alanis, Julio Cesar   +6 more
core   +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  

Successful renal transplant in a patient with non-Herlitz junctional epidermolysis bullosa.

, 2014
Non-Herlitz junctional epidermolysis bullosa (NH-JEB) is a very rare inherited disorder, with an array of complications. We present the case of a 33-year-old patient of Chinese origin, diagnosed with NH-JEB in childhood, who developed severe IgA ...
Heagerty, A, Brown, T, Inston, N, Ungureanu, S, Adni, T   +4 more
core   +1 more source