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Porous Silicon Nanoneedles Efficiently Deliver Adenine Base Editor to Correct a Recurrent Pathogenic COL7A1 Variant in Recessive Dystrophic Epidermolysis Bullosa.
Adv Mater
March 2025
Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 1UL, UK.
Base editing, a CRISPR-based genome editing technology, enables precise correction of single-nucleotide variants, promising resolutive treatment for monogenic genetic disorders like recessive dystrophic epidermolysis bullosa (RDEB). However, the application of base editors in cell manufacturing is hindered by inconsistent efficiency and high costs, contributed by suboptimal delivery methods. Nanoneedles have emerged as an effective delivery approach, enabling highly efficient, non-perturbing gene therapies both in vitro and in vivo.
View Article and Find Full Text PDFInvestigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring.
Balkan J Med Genet
December 2024
Department of Pediatric Endocrinology, S.B. Keçiören Eğitim ve Araştırma Hastanesi, Ankara, Turkey.
Vesicoureteral reflux (VUR) is an important factor in the etiology of recurrent urinary tract infections (UTIs). Permanent kidney damage may develop in children with high-grade VUR in the long term. This damage may progress with the development of scar tissue in some patients.
View Article and Find Full Text PDFBuilding a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Eur J Hum Genet
March 2025
Office of Academic Diversity, Division of Diversity, Equity and Inclusion, University of California at Davis, Davis, CA, USA.
Genetic studies in Latin America have expanded, but further efforts are needed to understand cancer susceptibility genes beyond BRCA1 and BRCA2, especially by characterizing the prevalence and spectrum of pathogenic or likely pathogenic variants (PVs) in the region. This study aimed to determine the frequency of hereditary cancer syndromes (HCS) in Colombians with solid tumors and to characterize the spectrum of PVs. Using data from the Colombia's largest Institutional Hereditary Cancer Program, we included patients aged ≥18 years with solid tumors who met HCS criteria and were offered genetic testing with a 105-cancer gene panel.
View Article and Find Full Text PDFCohesin mutations and chromatin changes in cancer.
Int J Cancer
March 2025
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
The identification of recurrent mutations in genes encoding the cohesin complex in cancer was among the most unexpected findings from cancer exome sequencing studies. Cohesin is a multi-subunit protein complex that is essential for sister chromatid cohesion, three-dimensional chromosome organization, DNA damage repair, and gene regulation. It forms a ring around DNA, with four structural subunits, SMC1A, SMC3, RAD21, and either STAG1 or STAG2.
View Article and Find Full Text PDFA Rare Case of Postpartum Portal Vein Thrombosis in a Young Patient With Heterozygous Prothrombin G20210A Mutation.
Cureus
February 2025
Internal Medicine, Lebanese University Faculty of Medical Sciences, Beirut, LBN.
Portal vein thrombosis (PVT) is most commonly associated with cirrhosis due to the reduced blood flow through the liver. However, its occurrence in non-cirrhotic individuals is rare and typically linked to hypercoagulable states. The postpartum period is a recognized hypercoagulable state, yet PVT in this context remains uncommon.
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