Results 101 to 110 of about 291,224 (296)

Rapid Multiplex Small DNA Sequencing on the MinION Nanopore Sequencing Platform

open access: yesG3: Genes, Genomes, Genetics, 2018
Real-time sequencing of short DNA reads has a wide variety of clinical and research applications including screening for mutations, target sequences and aneuploidy.
Shan Wei, Zachary R. Weiss, Zev Williams
doaj   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando   +13 more
wiley   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu   +9 more
wiley   +1 more source

Serum soluble mediator signatures of lupus nephritis: histological features and response to treatment

open access: yesArthritis Care &Research, Accepted Article.
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histological features and treatment response.
Andrea Fava   +26 more
wiley   +1 more source

Infrared Neural Stimulation Elicits Distinct Molecular Pathways in Astrocytes Based on Laser Pulse Parameters

open access: yesAdvanced Biology, EarlyView.
Infrared (IR) light evokes distinct calcium and water transport responses in astrocytes, depending on stimulation duration and protocol. This study uses widefield imaging and pharmacology to reveal differential engagement of astroglial signaling pathways.
Wilson R. Adams   +7 more
wiley   +1 more source

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