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Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach
(
Wiley Periodicals, Inc
, 2017 , Article)
Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants ...
A systematic investigation of the bio-toxicity of core-shell magnetic mesoporous silica microspheres using zebrafish model
(
Elsevier
, 2018 , Article)
Abstract In this work, shearing interface coassembly in biliquid phase systems is employed to synthesize biocompatible core-shell magnetic mesoporous silica microspheres with uniform size of about 600 nm, perpendicular ...
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
(
Springer US
, 2018 , Article)
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (SMN1). The molecular pathology of missense mutations in SMN1 is not thoroughly investigated so far. Therefore, ...
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
(
Springer US
, 2016 , Article)
Abstract To characterize an Egyptian patient with glutaric
acidemia type I (GA I) and to identify the causative mutation(
s) that may be responsible for the disease phenotype.
MRI was performed on the patient using the ...
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.
(
Springer US
, 2018 , Article)
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes ...
Oxidative stress-induced Akt downregulation mediates green tea toxicity towards prostate cancer cells
(
Elsevier
, 2017 , Article)
Green tea consumption has been shown to possess cancer chemopreventive activity. Polyphenol E (PE) is a widely used standardized green tea extract formulation. This study was designed to investigate the impact of PE on ...
Emerging cellular and molecular determinants of idiopathic pulmonary fibrosis.
(
Springer
, 2020 , Article Review)
Idiopathic pulmonary fibrosis (IPF), the most common form of idiopathic interstitial pneumonia, is a progressive, irreversible, and typically lethal disease characterized by an abnormal fibrotic response involving vast ...
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
(
Springer
, 2019 , Article)
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. ...
Meta-analysis of the incidence of lead dislodgement with conventional and leadless pacemaker systems
(
Blackwell Publishing Inc.
, 2018 , Article Review)
Introduction
Leadless cardiac pacemaker (LCP) implantation using a transcatheter was recently developed to avoid pocket- and lead-related complications. Although a LCP has an active fixation mechanism using tines or a ...
An integrative bioinformatics pipeline to demonstrate the alteration of the interaction between the ALDH2*2 allele with NAD and Disulfiram.
(
Wiley
, 2019 , Article)
Alcohol use disorder (AUD) is a multifactorial psychiatric behavior disorder. Disulfiram is the first approved drug by the Food and Drug Administration for alcohol-dependent patients, which targets the ALDH2 enzyme. Several ...