Results 71 to 80 of about 50,129 (215)
Analysis of factors shaping synonymous codon usage in pseudorabies virus
浙江大学学报. 农业与生命科学版, 2007 Synonymous codon usage and the main factors shaping codon usage in pseudorabies virus were reported in order to understand the architecture and evolution of pseudorabies virus.
YIN Hua-ping +3 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
eLife, 2018 Codon usage biases are found in all genomes and influence protein expression levels. The codon usage effect on protein expression was thought to be mainly due to its impact on translation.
Zhipeng Zhou +4 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Genome-wide analysis of the synonymous codon usage patterns in apple
Journal of Integrative Agriculture, 2016 Apple (Malus×domestica) has been proposed as an important woody plant and the major cultivated fruit trees in temperate regions. Apple whole genome sequencing has been completed, which provided an excellent opportunity for genome-wide analysis of the ...
Ning LI +4 more
doaj +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Advanced Functional Materials, EarlyView.The nanostructure, size, and function of mRNA‐loaded lipid nanoparticles are evaluated before drying, within polymer microneedles, and after rehydration. The results reveal the polymer and LNP loadings required to recover nanostructure and preserve the delivery performance in dry‐state formulations.
Brendan P. Dyett +19 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Pharmacokinetic engineering of clickable radioligands was achieved via albumin hitchhiking approach within a pretargeted radiotheranostics delivery platform. This approach reduced rapid renal elimination, expanded bioorthogonal capture window, boosted tumor uptake by ∼3.5‐fold, and improved the tumor‐to‐liver ratio by ∼6‐fold.
Xie He +9 more
wiley +1 more source