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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, ...
Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.
(2023)
Introduction:
Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their ...
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 ...
SARS-CoV-2/COVID-19: Viral Genomics, Epidemiology, Vaccines, and Therapeutic Interventions
(2020)
Abstract:
The COVID-19 pandemic is due to infection caused by the novel SARS-CoV-2 virus that impacts the lower respiratory tract. The spectrum of symptoms ranges from asymptomatic infections to mild respiratory symptoms ...
An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
(2020)
Abstract:
This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum disorder (ASD). A totally of 283 children who were referred for screening and administered Module 1 of the ...
Single-cell transcriptome identifes molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
(2021)
Background:
In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discov ered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly ...