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UnknownA genomic screen for activators of the antioxidant response element.
The antioxidant response element (ARE) is a cis-acting regulatory enhancer element found in the 5' flanking region of many phase II detoxification enzymes. Up-regulation of ARE-dependent target genes is known to have neuroprotective effects; yet, the mechanism of activation is largely unknown. By sc...
S-EPMC1829287 | biostudies-literature
UnknownDe novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate genes by using a targeted next-generation sequencing approach. Seven loss-of-function (LoF) mutations-four nonsense (c.1195A>T [p.Lys399(∗)], c...
S-EPMC3980521 | biostudies-literature
UnknownIntravenous Vitamin C for Patients Hospitalized With COVID-19: Two Harmonized Randomized Clinical Trials.

Importance

The efficacy of vitamin C for hospitalized patients with COVID-19 is uncertain.

Objective

To determine whether vitamin C improves outcomes for patients with COVID-19.

Design, setting, and participants

Two prospectively harmonized randomized clinical trials enrolled c...
S-EPMC10600726 | biostudies-literature
UnknownNICHD Magnetic Resonance Brain Imaging Score in Term Infants With Hypoxic-Ischemic Encephalopathy: A Secondary Analysis of a Randomized Clinical Trial.

Importance

The neonatal brain injury score on magnetic resonance imaging following moderate or severe hypoxic-ischemic encephalopathy developed by the National Institute of Child Health and Human Development Neonatal Research Network has been revised to separate watershed and basal ganglia o...
S-EPMC11833650 | biostudies-literature
UnknownTocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.

Background

In this study, we aimed to evaluate the effects of tocilizumab in adult patients admitted to hospital with COVID-19 with both hypoxia and systemic inflammation.

Methods

This randomised, controlled, open-label, platform trial (Randomised Evaluation of COVID-19 Therapy [RECOV...
S-EPMC8084355 | biostudies-literature
UnknownEvaluating the association of apolipoprotein E genotype and cognitive resilience in SuperAgers.

Introduction

"SuperAgers" are oldest-old adults (ages 80+) whose memory performance more closely resembles middle-aged adults. The present study examined apolipoprotein E (APOE) allele frequency in non-Hispanic Black (NHB) and non-Hispanic White (NHW) SuperAgers compared to controls and Alzh...
S-EPMC12809718 | biostudies-literature
UnknownSex-specific genetic architecture of late-life memory performance.

Background

Women demonstrate a memory advantage when cognitively healthy yet lose this advantage to men in Alzheimer's disease. However, the genetic underpinnings of this sex difference in memory performance remain unclear.

Methods

We conducted the largest sex-aware genetic study on l...
S-EPMC10917043 | biostudies-literature
UnknownDiscovery and validation of cell cycle arrest biomarkers in human acute kidney injury.

Introduction

Acute kidney injury (AKI) can evolve quickly and clinical measures of function often fail to detect AKI at a time when interventions are likely to provide benefit. Identifying early markers of kidney damage has been difficult due to the complex nature of human AKI, in which mult...
S-EPMC4057242 | biostudies-literature
UnknownEvaluating the association of <i>APOE</i> genotype and cognitive resilience in SuperAgers.

Introduction

"SuperAgers" are oldest-old adults (ages 80+) whose memory performance more closely resembles middle-aged adults. The present study examined APOE allele frequency in non-Hispanic Black (NHB) and non-Hispanic White (NHW) SuperAgers compared to controls and Alzheimer's dise...
S-EPMC11741496 | biostudies-literature
UnknownSex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults.
We previously identified sex-specific genetic loci associated with memory performance, a strong Alzheimer's disease (AD) endophenotype. Here, we expand on this work by conducting sex-specific, cross-ancestral, genome-wide meta-analyses of three cognitive domains (memory, executive functioning, and l...
S-EPMC12148254 | biostudies-literature
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