Results 171 to 180 of about 4,670,790 (255)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang   +13 more
wiley   +1 more source

Natural occurrence of drug resistance mutations to the HIV-1 capsid inhibitor lenacapavir. [PDF]

open access: yesHIV Med
Weibull Wärnberg A   +3 more
europepmc   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang   +7 more
wiley   +1 more source

Characteristics of Drug Resistance Mutations in a Korean HIV/AIDS Cohort, and Risk Factors for Resistance Acquisition in ART-Experienced Patients. [PDF]

open access: yesInfect Chemother
Lee M   +17 more
europepmc   +1 more source

Leveraging Symbolic Artificial Intelligence and Fuzzy Logic for Materials Science: A Review of Methods, Challenges, and Applications to Scarce and Imperfect Experimental Data

open access: yesAdvanced Engineering Materials, EarlyView.
This article explores the transformative potential of symbolic artificial intelligence (AI) in the field of materials science, particularly in leveraging experimental data. The article presents several symbolic AI models and discusses their applications in materials science.
Ahmed Amrani   +7 more
wiley   +1 more source

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