Results 161 to 170 of about 6,548,552 (337)

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Longitudinal Relationship Between Pain and Depression in People With Inflammatory Arthritis: A Narrative Review

open access: yesArthritis Care &Research, EarlyView.
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox   +3 more
wiley   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

open access: yesAdvanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe   +4 more
wiley   +1 more source

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

open access: yesGenetics in Medicine, 2017
D. Monies   +15 more
semanticscholar   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

open access: yesAdvanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez   +8 more
wiley   +1 more source

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations. [PDF]

open access: yes, 2019
Parietal cortex RNA-sequencing (RNA-seq) data were generated from individuals with and without Alzheimer disease (AD; ncontrol = 13; nAD = 83) from the Knight Alzheimer Disease Research Center (Knight ADRC).
Bateman, Randall J   +22 more
core  

Murine Models and Human Cell Line Models to Study Altered Dynamics of Ovarian Follicles in Polycystic Ovary Syndrome

open access: yesAdvanced Biology, EarlyView.
The manuscript examines preclinical murine and human models to study polycystic ovary syndrome (PCOS), delving into the cellular and molecular mechanisms underlying altered ovarian follicular dynamics. It explores the cellular interactions involved in normal and PCOS ovaries and outlines the current and novel strategies in the search for preclinical ...
Arturo Bevilacqua   +5 more
wiley   +1 more source

Adjustable Plasmonic Core–Shell Nanoparticles for Personalized Color Vision Correction

open access: yesAdvanced Engineering Materials, EarlyView.
This study introduces a personalized solution for correcting color vision deficiency (CVD) by embedding tunable core‐shell metal nanoparticles—a common nanotechnology—into contact lenses. By customizing the nanoparticles’ optical properties to filter specific wavelengths, these lenses address individual visual impairments, enhancing color ...
Hyeonah Lee   +4 more
wiley   +1 more source

Genetics of Parkinson's disease: Dominant forms and GBA

open access: yesNeurology Perspectives
Parkinson's disease (PD) accounts for a significant burden on modern society, with an increasingly rapid growth in cases. Variants of several genes have been linked to the risk of developing the disease (e.g., the GBA gene).
P. Salles, MD   +2 more
doaj  

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