Functional Association of miR-133b and miR-21 Through Novel Gene Targets ATG5, LRP6 and SGPP1 in Coronary Artery Disease
ConclusionsResults from the present study suggest thatSGPP1,ATG5 andLRP6, target genes of miR-133b and miR-21, may serve as potential therapeutic hotspots in the management of coronary artery disease, which undoubtedly merit further experimental confirmation. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 5, 2022 Category: Molecular Biology Source Type: research
Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients
ConclusionThese findings highlight the benefit and practicality of a diagnostic testing program to identify patients suitable for tumour-agnostic TRK inhibitor therapies, as well as other targeted therapies, due to clinically actionable incidental findings identified. Collectively, these findings may inform future guidance on selecting the appropriate testing approach per tumour type and on optimalNTRK testing algorithms. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 4, 2022 Category: Molecular Biology Source Type: research
Single Nucleotide Variants in KIF14 Gene May Have Prognostic Value in Breast Cancer
In conclusion, our preliminary data suggest that minor alleles in rs17448931 and rs3806362 ofKIF14 represent candidate biomarkers of poor prognosis of breast cancer patients. After pending validation in independent populations and eventual functional characterization, these candidates might become useful biomarkers in the clinics. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 3, 2022 Category: Molecular Biology Source Type: research
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma
ConclusionsIn patients withgBRCA1-P/LPV-PDAC, loss of heterozygosity is the main inactivating mechanism of the wild-typeBRCA1 allele in the tumor, and methylation of theBRCA1 promoter is a distinctly uncommon occurrence. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 30, 2022 Category: Molecular Biology Source Type: research
Digital PCR-Based Method for Detecting CDKN2A Loss in Brain Tumours
DiscussionThe method presented can give a fast, cost-effective, clinically reliable evaluation ofCDKN2A loss in tissue with more than 50% tumour content. Its ability to work with old samples and with low amounts of DNA makes it the favoured assay in cases where other techniques fail. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 21, 2022 Category: Molecular Biology Source Type: research
Indirect Clinical Validation of a Programmed Death-Ligand 1 Laboratory-Developed Test for Gastric/Gastroesophageal Junction Adenocarcinoma with 22C3 Antibody Concentrate
ConclusionThe PD-L1 22C3 antibody concentrate can potentially be used with the laboratory-developed test on three commercially available immunohistochemistry staining platforms to determine PD-L1 expression in tumor samples from patients with gastric or gastroesophageal junction adenocarcinoma. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 20, 2022 Category: Molecular Biology Source Type: research
Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics
ConclusionsWe demonstrated that qPCR or NGS performed in reference genetic laboratories, rather than IHC, is the most reliable method forIDH1/2 analysis. Clinicians should be aware of discrepancies in MLPA or IHC results and seek reconsultation in facilities with extensive access to advanced molecular technologies. Moreover, we proposed a new algorithm for the molecular diagnostic procedures in glioma patients based on the WHO CNS5.Graphical abstract (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 2, 2022 Category: Molecular Biology Source Type: research
Epigenetics Beyond Fetal Growth Restriction: A Comprehensive Overview
AbstractFetal growth restriction is a pathological condition occurring when the fetus does not reach the genetically determined growth potential. The etiology of fetal growth restriction is expected to be multifactorial and include fetal, maternal, and placental factors, the latter being the most frequent cause of isolated fetal growth restriction. Severe fetal growth restriction has been related to both an increased risk of perinatal morbidity and mortality, and also a greater susceptibility to developing diseases (especially cardio-metabolic and neurological disorders) later in life. In the last decade, emerging eviden...
Source: Molecular Diagnosis and Therapy - August 26, 2022 Category: Molecular Biology Source Type: research
Future Prospects for Epigenetics in Autism Spectrum Disorder
AbstractDespite decades of investigation into the genetics of autism spectrum disorder (ASD), a current consensus in the field persists that ASD risk is too heterogeneous to be diagnosed by a single set of genetic variants. As such, ASD research has broadened to include assessment of other molecular biomarkers implicated in the condition that may be reflective of environmental exposures or gene by environment interactions. Epigenetic variance, and specifically differential DNA methylation, have emerged as areas of particularly high interest to ASD, as the epigenetic markers from specific chromatin loci collectively can ref...
Source: Molecular Diagnosis and Therapy - August 13, 2022 Category: Molecular Biology Source Type: research
Epigenetics and ADHD: Reflections on Current Knowledge, Research Priorities and Translational Potential
AbstractAttention-deficit/hyperactivity disorder (ADHD) is a common and debilitating neurodevelopmental disorder influenced by both genetic and environmental factors, typically identified in the school-age years but hypothesized to have developmental origins beginning in utero. To improve current strategies for prediction, prevention and treatment, a central challenge is to delineate how, at a molecular level, genetic and environmental influences jointly shape ADHD risk, phenotypic presentation, and developmental course. Epigenetic processes that regulate gene expression, such as DNA methylation, have emerged as a promisin...
Source: Molecular Diagnosis and Therapy - August 6, 2022 Category: Molecular Biology Source Type: research
Correction to: Optimization of a Quantitative PCR Methodology for Detection of Aspergillus spp. and Rhizopus arrhizus
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 18, 2022 Category: Molecular Biology Source Type: research
Smad7 Antisense Oligonucleotide-Based Therapy in Crohn's Disease: Is it Time to Re-Evaluate?
AbstractAbundant preclinical work showed that in Crohn ’s disease (CD), the defective activity of the immunosuppressive cytokine tumor necrosis factor (TGF)-β1 due to high levels of the intracellular inhibitor Smad7 contributes to amplify the tissue-damaging inflammatory response. Consistently, phase I and II studies documented clinical and endoscopi c benefit in active CD patients treated with mongersen, an oral antisense oligonucleotide targeting Smad7. However, a multicenter, randomized, double-blind, placebo-controlled, phase III study was prematurely discontinued as a futility analysis showed that mongersen was not...
Source: Molecular Diagnosis and Therapy - July 16, 2022 Category: Molecular Biology Source Type: research
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
ConclusionsOur study confirmed the importance of genetic testing in pediatric cardiomyopathies. Discovery of novel pathogenic variations is crucial for clinical management of affected families, as a positive genetic result might be used by a prospective parent for prenatal genetic testing or in the process of pre-implantation genetic diagnosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 15, 2022 Category: Molecular Biology Source Type: research
Maltese Allelic Variants in Corneal Dystrophy Genes in a Worldwide Setting
ConclusionIdentifying populations with least genetic differentiation can facilitate and help guide future diagnostic and treatment strategies for Maltese individuals with CDs in the absence of comparable Maltese data. Analysing the previously unknown CD genetic pool present in a large Maltese cohort adds to the global genetic bank that researchers rely on for medical progress. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 7, 2022 Category: Molecular Biology Source Type: research
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
This study broadens the phenotypic spectrum of recessiveTPM3 disease, highlighting tongue fasciculations and bilateral clubfoot, as well as possibly-related cerebral atrophy. It also shows the importance of a broad approach to genetic analysis and the utility of RNA-based studies, demonstrating efficacy of early genome and transcriptome queries in facilitating rapid and cost-effective diagnosis of congenital myopathies. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 7, 2022 Category: Molecular Biology Source Type: research
