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Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.
J Muscle Res Cell Motil
January 2025
Institute of Developmental and Regenerative Medicine, University of Oxford, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Dr, Headington, Oxford, OX3 7TY, UK.
Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin.
View Article and Find Full Text PDFTherapeutic gene correction of HBB frameshift CD41-42 (-TCTT) deletion in human hematopoietic stem cells.
Adv Biotechnol (Singap)
January 2025
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, 510275, Guangdong, China.
Β-thalassemia is one of the global health burdens. The CD41-42 (-TCTT) mutation at HBB is the most prevalent pathogenic mutation of β-thalassemia in both China and Southeast Asia. Previous studies focused on repairing the HBB CD41-42 (-TCTT) mutation in β-thalassemia patient-specific induced pluripotent stem cells, which were subsequently differentiated into hematopoietic stem and progenitor cells (HSPCs) for transplantation.
View Article and Find Full Text PDFRecent progress in xenotransplantation and its application to pediatric kidney disease.
Pediatr Nephrol
January 2025
Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, 105-8461, Japan.
Patients with kidney failure require dialysis or kidney transplantation. Kidney transplantation offers great benefits, including reduced mortality; however, many patients who wish to undergo kidney transplantation are unable to do so due to a shortage of donor organs. This shortage is a global issue, and xenotransplantation has emerged as a potential solution.
View Article and Find Full Text PDFGeneralizability of Randomized Controlled Trials to Routine Clinical Care in Ulcerative Colitis.
Inflamm Bowel Dis
January 2025
Inflammatory Bowel Disease Unit, Division of Gastroenterology and Hepatology, Department of Medicine, University of Calgary, 5th Floor Cal Wenzel Precision Health Building, 3280 Hospital Drive NW, Calgary, AB T2N 4Z6, Canada.
Background: Historically, randomized controlled trials (RCTs) have been criticized for being poorly generalizable to patients with ulcerative colitis (UC) evaluated in routine care. We aimed to evaluate the proportion of patients with UC starting an advanced therapy who would be eligible to participate in phase 3 registrational UC RCTs.
Methods: We conducted a retrospective cohort analysis of UC patients starting vedolizumab, ustekinumab, or tofacitinib at 2 IBD clinics at the University of Calgary.
Updates in atypical hemolytic syndrome.
Curr Opin Pediatr
January 2025
Division of Pediatric Nephrology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Purpose Of Review: This review aims to summarize how scientific advances in complement biology have not only improved the diagnosis and management of aHUS but also continue to offer insights into the pathophysiology of complement-mediated disease that may be leveraged for future therapeutic developments.
Recent Findings: Updated information on the clinical and epidemiological features, pathophysiology, diagnosis, management, and potential for future therapeutic advancements in the treatment of aHUS are reviewed.
Summary: aHUS is a rare but potentially life-threatening disease that requires prompt diagnosis and treatment as well as long-term management via a multidisciplinary team providing coordination of primary and specialty care as well as outreach and education for children and families affected by this life-long disease.
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