Results 141 to 150 of about 242,506 (191)

Cell Membrane‐Coated Lipid Nanoparticles for Drug Delivery

open access: yesAggregate, EarlyView.
This review highlights recent progress in cell membrane‐coated lipid nanoparticles (CMC‐LNPs), focusing on their design, preparation methods, functional integration, and biomedical applications. It discusses various types of LNPs and coating strategies, characterization techniques, therapeutic functions, and applications.
Moataz B. Zewail   +5 more
wiley   +1 more source

Solving the Amyloid Paradox: Unveiling the Complex Pathogenicity of Amyloid Fibrils

open access: yesAggregate, EarlyView.
This review addresses the gap between strong evidence for the involvement of amyloid fibrils in neurodegeneration and the failure of anti‐amyloid therapies, a phenomenon herein termed the “amyloid paradox.” To address this paradox, we provide a comprehensive summary of the current understanding of fibrils' pathogenic properties and mechanisms ...
Maksim I. Sulatsky   +3 more
wiley   +1 more source

Hypoferremic Response to Chronic Inflammation Is Controlled via the Hemojuvelin/Hepcidin/Ferroportin Axis and Does Not Involve Hepcidin‐Independent Regulation of Fpn mRNA

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT The iron regulatory hormone hepcidin contributes to the pathogenesis of anemia of inflammation (AI) by inhibiting the iron exporter ferroportin in target cells, causing hypoferremia. Under acute inflammation, hepcidin induction requires hemojuvelin (Hjv), a bone morphogenetic protein co‐receptor, while Fpn mRNA is also suppressed in a hepcidin‐
Siqi Liu   +3 more
wiley   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti   +12 more
wiley   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé   +5 more
wiley   +1 more source

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

open access: yesAnnals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano   +13 more
wiley   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

open access: yesAnnals of Neurology, EarlyView.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa   +11 more
wiley   +1 more source

The ATM Kinase Inhibitor AZD0156 Is a Potent Inhibitor of Plasmodium Phosphatidylinositol 4‐Kinase (PI4Kβ) and Is an Attractive Candidate for Medicinal Chemistry Optimization Against Malaria

open access: yesAngewandte Chemie, EarlyView.
AZD0156, an ATM kinase inhibitor in clinical development, shows promising multistage antiplasmodial activity by targeting Plasmodium falciparum phosphatidylinositol 4‐kinase (PfPI4Kβ). With an improved specificity profile relative to other PfPI4Kβ inhibitors and moderate efficacy in a P.
John G. Woodland   +33 more
wiley   +2 more sources

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer   +52 more
wiley   +1 more source

LC‐MS and High‐Throughput Data Processing Solutions for Lipid Metabolic Tracing Using Bioorthogonal Click Chemistry

open access: yesAngewandte Chemie, EarlyView.
This study introduces an integrated analytical and bioinformatics platform for high‐throughput tracing of lipid metabolism using bioorthogonal alkyne fatty acids and optimized LC‐MS workflow. Applied to human fibrosarcoma cells, the method traced fatty acid metabolism, revealing nuances in sphingolipid routing and metabolic bottlenecks, highlighting ...
Palina Nepachalovich   +7 more
wiley   +2 more sources

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