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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFIndobufen versus aspirin in patients with indication for antiplatelet therapy: A systematic review and meta-analysis.
Vascul Pharmacol
January 2025
INC Hospital, Curitiba, Brazil. Electronic address:
Introduction: Aspirin is commonly recommended for individuals who have experienced stroke or myocardial infarction (MI). Indobufen, a cyclooxygenase-1 inhibitor, has been studied as a potential alternative. We conducted a meta-analysis and trial sequential analysis (TSA) to compare indobufen with aspirin in patients requiring antiplatelet therapy.
View Article and Find Full Text PDFPivotal trial characteristics and types of endpoints used to support Food and Drug Administration rare disease drug approvals between 2013 and 2022.
Clin Trials
January 2025
Rare Diseases Team, Office of New Drugs, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD, USA.
Background/aims: Rare disease drug development faces unique challenges, such as genotypic and phenotypic heterogeneity within small patient populations and a lack of established outcome measures for conditions without previously successful drug development programs. These challenges complicate the process of selecting the appropriate trial endpoints and conducting clinical trials in rare diseases. In this descriptive study, we examined novel drug approvals for non-oncologic rare diseases by the U.
View Article and Find Full Text PDFCaution when using network partners for target identification in drug discovery.
HGG Adv
January 2025
Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; 5 Prime Sciences Inc, Montréal, Quebec, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC, Canada; Department of Medicine, McGill University, Montréal, Québec, Canada; Department of Twin Research, King's College London, London, UK. Electronic address:
Identifying novel, high-yield drug targets is challenging and often results in a high failure rate. However, recent data indicates that leveraging human genetic evidence to identify and validate these targets significantly increases the likelihood of success in drug development. Two recent papers from Open Targets claimed that around half of FDA-approved drugs had targets with direct human genetic evidence.
View Article and Find Full Text PDFUnmet Needs in the Management of Chronic Kidney Disease-Associated Pruritus and the Characteristics of the Ideal Treatment: A Spanish Cross-Sectional Survey from a Multidisciplinary Perspective.
J Clin Med
January 2025
Management, Association for the Fight against Kidney Diseases ALCER, 28002 Madrid, Spain.
Chronic kidney disease-associated pruritus (CKD-aP) is underdiagnosed and not fully understood by healthcare professionals, which leads to poor patient management and impacts patients' quality of life (QoL). The aim of this study was to analyse unmet needs in CKD-aP management and explore the attributes/characteristics that the ideal CKD-aP treatment should have from the perspective of a group of nephrologists, hospital pharmacists, nurses, patient representatives, and regional health authorities in Spain. A descriptive, cross-sectional study was conducted using an e-survey including ad hoc questions (6-point Likert scale) related to unmet needs in CKD-aP and best-worst scaling (BWS) to prioritise the attributes/characteristics of the ideal CKD-aP treatment.
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