Results 71 to 80 of about 3,777 (193)

Decoding the Cardiac Immune Microenvironment and Fibroblast Crosstalk in Radiotherapy Combined with Immunotherapy‐Induced Cardiac Fibrosis Based on Single‐Cell Transcriptomic Analysis

Advanced Science, Volume 13, Issue 25, 4 May 2026.
This study highlights that radioimmunotherapy drives crosstalk between fibroblasts and immune cells (especially macrophages) in the cardiac microenvironment, with IL‐6 as the key mediator, and tocilizumab alleviates cardiac fibrosis by targeting this interplay.
Yuxi Luo, Ying Yu, Zhimin Zeng, Yanxin Chen, Yali Yi, Zhiqin Lu, Fujuan Zeng, Peng Xu, Daya Luo, Leifeng Chen, Anwen Liu   +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

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

, 2001
In the absence of a positive family history, it is often difficult to determine whether a single case of mild-to-moderately severe dystrophic epidermolysis bullosa (DEB) represents autosomal recessive or de novo dominant disease.
Mellerio, J E, Mohammedi, R, McGrath, J A, Ashton, G H S, Salas-Alanis, J C, Eady, R A J, Denyer, J E, Wessagowit, V   +7 more
core   +1 more source

Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa [PDF]

, 2010
Despite the high incidence of revertant mosaicism (35%) in patients with the genetic skin disease epidermolysis bullosa (EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently.
Cuadrado-Corrales, Natividad, Marta Garcia, Maria J. Escamez, Natividad Cuadrado-Corrales, Escamez, Maria J., Jonkman, Marcel F., García Díez, Marta, Escámez Toledano, María José, Azon, Antoni, Río Nechaevsky, Marcela del, Del Rio, Marcela, Garcia, Marta, Antoni Azon, Pasmooij, Anna M. G., Nijenhuis, A. Miranda, A. Miranda Nijenhuis, Marcela Del Rio, Marcel F. Jonkman, Anna M.G. Pasmooij   +18 more
core   +1 more source

A Glucose‐Responsive Intelligent Antibacterial and Oxygen‐Producing Hydrogel Promotes the Healing of Diabetic Wounds by Regulating Cellular Heterogeneity

Advanced Science, Volume 13, Issue 19, 2 April 2026.
We have developed a glucose‐triggered on‐demand drug delivery CF‐CPGaMPN hydrogel based on borate ester bonds. It inactivates microbes, releases oxygen, and enables on‐demand drug release in high‐glucose environments to promote healing of diabetic wounds. Single‐cell sequencing reveals that the CF‐CPGaMPN hydrogel significantly alleviates dysfunctional
Manxuan Liu, Zhongcheng Li, Qian Ren, Ziqian Lu, Yubing Zhang, Yili Guo, Ruomeng Li, Die Hu, Linglin Zhang   +8 more
wiley   +1 more source

Antisense oligonnucleotide treatment of COL7A1 causes non-specific splice modifications

, 2018
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disease caused by bi‐allelic mutations in the COL7A1, which results in severe blistering of the skin and mucous membranes. Current therapies treat the symptoms but not the disease.
West, K.A., Wilton, S.D., Fletcher, S.
core  

Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs

, 2020
Genome editing represents a promising strategy for the therapeutic correction of COL7A1 mutations that cause recessive dystrophic epidermolysis bullosa (RDEB).
Webber, Beau R., Osborn, Mark J., Eide, Cindy R., Nielsen, Sarah C., Liu, David R., Dabelsteen, Sally, Blazar, Bruce R., Knipping, Friederike, Chen, Weili, Riddle, Megan J., Xia, Lily, Newby, Gregory A., Wandall, Hans H., Tolar, Jakub, McElroy, Amber N.   +14 more
core   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Fibroblasts Show More Potential as Target Cells than Keratinocytes in COL7A1 Gene Therapy of Dystrophic Epidermolysis Bullosa

, 2006
Dystrophic epidermolysis bullosa (DEB) is an inherited blistering skin disorder caused by mutations in the type VII collagen gene (COL7A1). Therapeutic introduction of COL7A1 into skin cells holds significant promise for the treatment of DEB. The purpose
Abe, Masataka, Ito, Kei, Goto, Maki, Akiyama, Masashi, Sawamura, Daisuke, Shimizu, Hiroshi, Nishie, Wataru, Sakai, Kaori, Shibaki, Akihiko   +8 more
core   +1 more source