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السجلات المعروضة 11 -- 17 من 17
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
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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, ...
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction
(
Portland Press Ltd
, 2018 , Article)
The most common inherited cardiac disorder, hypertrophic cardiomyopathy (HCM), is characterized by thickening of heart muscle, for which genetic mutations in cardiac myosin-binding protein C3 (c-MYBPC3) gene, is the leading ...
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 ...
Toxicity evaluation of selected ionic liquid compounds on embryonic development of Zebrafish.
(
Elsevier
, 2018 , Article)
Hydrate formation in seafloor pipelines is considered an economic and flow assurance issue for the oil and gas industries. Ionic liquids (ILs) have been recently used as potential hydrate inhibitors. Although branded as ...
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
(
Elsevier
, 2018 , Article)
Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis ...
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach
(
Springer New York LLC
, 2018 , Article)
The NF1 gene encodes for neurofibromin protein, which is ubiquitously expressed, but most highly in the central nervous system. Non-synonymous SNPs (nsSNPs) in the NF1 gene were found to be associated with Neurofibromatosis ...
Design and synthesis of novel thioethers derived from 1,5-diphenyl-6-thioxo-6,7-dihydro-1H-pyrazolo[3,4-d]pyrimidin-4(5H)-ones as antiangiogenic agents
(
Bentham
, 2018 , Article)
Background: In attempts to discover new antiangiogenic entities, a novel series of thioethers derived from 6-thioxo-6,7-dihydro-1H-pyrazolo[3,4-d]pyrimidine-4(5H)ones was considered and designed. Methods: Virtual screening ...