Evaluating Infectious, Neoplastic, Immunological, and Degenerative Diseases of the Central Nervous System with Cerebrospinal Fluid-Based Next-Generation Sequencing
AbstractCerebrospinal fluid (CSF) is a clear and paucicellular fluid that circulates within the ventricular system and the subarachnoid space of the central nervous system (CNS), and diverse CNS disorders can impact its composition, volume, and flow. As conventional CSF testing suffers from suboptimal sensitivity, this review aimed to evaluate the role of next-generation sequencing (NGS) in the work-up of infectious, neoplastic, neuroimmunological, and neurodegenerative CNS diseases. Metagenomic NGS showed improved sensitivity —compared to traditional methods—to detect bacterial, viral, parasitic, and fungal infections...
Source: Molecular Diagnosis and Therapy - March 1, 2021 Category: Molecular Biology Source Type: research
Epigenetics in Non-tumor Immune-Mediated Skin Diseases
AbstractEpigenetics is the study of the mechanisms that regulate gene expression without modifying DNA sequences. Knowledge of and evidence about how epigenetics plays a causative role in the pathogenesis of many skin diseases is increasing. Since the epigenetic changes present in tumor diseases have been thoroughly reviewed, we believe that knowledge of the new epigenetic findings in non-tumor immune-mediated dermatological diseases should be of interest to the general dermatologist. Hence, the purpose of this review is to summarize the recent literature on epigenetics in most non-tumor dermatological pathologies, focusin...
Source: Molecular Diagnosis and Therapy - March 1, 2021 Category: Molecular Biology Source Type: research
Treatable Mechanisms in Asthma
AbstractAsthma is a heterogeneous condition, but firm identification of heterogeneity-focused treatments is still lacking. Dividing patients into subgroups of asthma pheno-/endotypes based on combined clinical and cellular biological characteristics and linking them to targeted treatments could be a potentially useful approach to personalize therapy for better outcomes. Nonetheless, there are still many problems related to the identification and validation of asthma phenotypes and endotypes. Alternatively, a precision-medicine strategy for the management of patients with airways disease that is free from the traditional di...
Source: Molecular Diagnosis and Therapy - February 11, 2021 Category: Molecular Biology Source Type: research
System-Wide Pollution of Biomedical Data: Consequence of the Search for Hub Genes of Hepatocellular Carcinoma Without Spatiotemporal Consideration
AbstractBiomedical institutions rely on data evaluation and are turning into data factories. Big-data storage centers, supercomputing systems, and increased algorithmic efficiency allow us to analyze the ever-increasing amount of data generated every day in biomedical research centers. In network science, the principal intrinsic problem is how to integrate the data and information from different experiments on genes or proteins. Data curation is an essential process in annotating new functional data to known genes or proteins, undertaken by a biobank curator, which is then reflected in the calculated networks. We provide a...
Source: Molecular Diagnosis and Therapy - January 21, 2021 Category: Molecular Biology Source Type: research
Correction to: Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China
In the original publication of the article, text in Table 1 has a few errors as mentioned below. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 21, 2021 Category: Molecular Biology Source Type: research
Circulating Exosomes of Neuronal Origin as Potential Early Biomarkers for Development of Stroke
AbstractStroke is one of the major causes of morbidity and mortality globally, with devastating effects. It is diagnosed mainly by clinical assessment and brain imaging; however, it is challenging to discriminate stroke from similar conditions with parallel presentations. While brain imaging provides detection of stroke infarcts, it does not provide useful information on the biology and prognosis of the underlying disease process. The complex pathophysiology of stroke infarcts is a barrier in developing sensitive diagnostic tools, which consequently has a detrimental effect on development of treatment regimens. Early diagn...
Source: Molecular Diagnosis and Therapy - January 16, 2021 Category: Molecular Biology Source Type: research
High-Speed Quenching Probe-Polymerase Chain Reaction Assay for the Rapid Detection of Carbapenemase-Producing Gene Using GENECUBE: A Fully Automatic Gene Analyzer
ConclusionsThe GENECUBE assay is a promising tool for controlling the spread of CPOs and helping to select accurate and rapid antibiotic therapies. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 16, 2021 Category: Molecular Biology Source Type: research
The Ubiquitin Proteasome System and Skin Fibrosis
AbstractThe ubiquitin proteasome system (UPS) is a highly conserved way to regulate protein turnover in cells. The UPS hydrolyzes and destroys variant or misfolded proteins and finely regulates proteins involved in differentiation, apoptosis, and other biological processes. This system is a key regulatory factor in the proliferation, differentiation, and collagen secretion of skin fibroblasts. E3 ubiquitin protein ligases Parkin and NEDD4 regulate multiple signaling pathways in keloid. Tumor necrosis factor (TNF) receptor-associated factor 4 (TRAF4) binding with deubiquitinase USP10 can induce p53 destabilization and promo...
Source: Molecular Diagnosis and Therapy - January 12, 2021 Category: Molecular Biology Source Type: research
SLC46A1 Haplotype with Predicted Functional Impact has Prognostic Value in Breast Carcinoma
ConclusionsThis study revealed the prognostic value of aSLC46A1 haplotype block for breast cancer that should be further studied. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 2, 2021 Category: Molecular Biology Source Type: research
Herpes Simplex Virus-1 and -2 Rapid Detection in Whole Blood
ConclusionsThe performance of the LDT for detection of HSV-1 and HSV-2 in WB specimens is adequate for clinical use. The LoD for HSV-1 and HSV-2 is comparable to that in CSF, the FDA-approved specimen type. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 1, 2021 Category: Molecular Biology Source Type: research
Using RNA-seq to Assess Off-Target Effects of Antisense Oligonucleotides in Human Cell Lines
ConclusionsAvoiding suppression of off-target genes by a thorough bioinformatics screen should strongly reduce the risk for toxicities caused by antisense oligonucleotide-mediated off-target RNA suppression and finally result in safer antisense oligonucleotide-based therapeutics. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 12, 2020 Category: Molecular Biology Source Type: research
Human Papillomavirus DNA Detection by Droplet Digital PCR in Formalin-Fixed Paraffin-Embedded Tumor Tissue from Oropharyngeal Squamous Cell Carcinoma Patients
ConclusionsType-specific HPV-DNA detection by ddPCR is highly specific but moderately sensitive for the determination of HPV status and showed clinical relevance, mainly when associated with p16-IHC status. Results highlight the importance of performing HPV-DNA testing in combination with p16-IHC for proper identification of HPV-associated OPSCC and to improve clinical management of OPSCC patients. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 27, 2020 Category: Molecular Biology Source Type: research
Expansion of the CRISPR/Cas Genome-Sculpting Toolbox: Innovations, Applications and Challenges
AbstractThe emergence of the versatile gene-editing technology using programmable sequence-specific endonuclease system (CRISPR-Cas9) has instigated a major upheaval in biomedical research. In a brief span of time, CRISPR/Cas has been adopted by research labs around the globe because of its potential for significant progress and applicability in terms of efficiency, versatility and simplicity. It is a breakthrough technique for systematic genetic engineering, genome labelling, epigenetic and transcriptional modulation, and multiplexed gene editing, amongst others. This review provides an illustrative overview of the curren...
Source: Molecular Diagnosis and Therapy - November 13, 2020 Category: Molecular Biology Source Type: research
Acknowledgement to Referees
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 13, 2020 Category: Molecular Biology Source Type: research
Inferring Potential CircRNA –Disease Associations via Deep Autoencoder-Based Classification
AbstractAimCircular RNAs (circRNA) are endogenous non-coding RNA molecules with a stable circular conformation. Growing evidence from recent experiments reveals that dysregulations and abnormal expressions of circRNAs are correlated with complex diseases. Therefore, identifying the causal circRNAs behind diseases is invaluable in explaining the disease pathogenesis. Since biological experiments are difficult, slow-progressing, and prohibitively expensive, computational approaches are necessary for identifying the relationships between circRNAs and diseases.MethodsWe propose an ensemble method called AE-RF, based on a deep ...
Source: Molecular Diagnosis and Therapy - November 6, 2020 Category: Molecular Biology Source Type: research
