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Mutational Landscape of Autism Spectrum Disorder Brain Tissue
(2022)
Abstract:
Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, ...
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
(2022-11)
Abstract
The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we ...
NeuroSCORE is a genome‑wide omics‑based model that identifes candidate disease genes of the central nervous system
(2022)
Abstract:
To identify candidate disease genes of central nervous system (CNS) phenotypes, we created the Neurogenetic Systematic Correlation of Omics-Related Evidence (NeuroSCORE). We identified five genome-wide metrics ...
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
(2022)
Abstract:
Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a frst-tier test for many NDDs. We ...
Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children
(2022)
Importance:
Clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem in‐ flammatory syndrome in children (MIS-C) have not yet been documented.
Objective:
To assess the genetic and ...
Curcumin improves D-galactose and normalaging associated memory impairment in mice: In vivo and in silico-based studies
(2022)
Abstract:
Aging-induced memory impairment is closely associated with oxidative stress. D-Galactose (D-gal) evokes severe oxidative stress and mimics normal aging in animals. Curcumin, a natural flavonoid, has potent ...
Analyzing single cell transcriptome data from severe COVID-19 patients
(2022)
SUMMARY:
We describe the protocol for identifying COVID-19 severity specific cell types and their regulatory marker genes using single-cell transcriptomics data. We construct COVID-19 comorbid disease-associated gene list ...
Computational Analysis of Short Linear Motifs in the Spike Protein of SARS-CoV-2 Variants Provides Possible Clues into the Immune Hijack and Evasion Mechanisms of Omicron Variant
(2022-08)
Abstract:
Short linear motifs (SLiMs) are short linear sequences that can mediate protein–protein interaction. Mimicking eukaryotic SLiMs to compete with extra- or intracellular binding partners, or to sequester host ...