Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China
Conclusion: The results confirmed that WES is a powerful tool in prenatal diagnosis, especially for fetuses with ultrasonographic anomalies that cannot be diagnosed using conventional prenatal methods. Additionally, newly identified variants will expand the phenotypic spectrum of monogenic disorders and greatly enrich the prenatal diagnostic database. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 22, 2024 Category: Genetics & Stem Cells Source Type: research
A mendelian randomization study investigates the causal relationship between immune cell phenotypes and cerebral aneurysm
Conclusion: Our investigation has yielded findings that support a substantial genetic link between immune cells and CAs, thereby suggesting possible implications for future clinical interventions. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 19, 2024 Category: Genetics & Stem Cells Source Type: research
Causal relationship between human blood metabolites and risk of ischemic stroke: a Mendelian randomization study
Conclusion: Among 1,400 blood metabolites, this study identified 23 known metabolites that are significantly associated with IS risk, with 13 being more prominent. The integration of genomics and metabolomics provides important insights for the screening and prevention of IS. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 19, 2024 Category: Genetics & Stem Cells Source Type: research
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
This study presents evidence that switching from alglucosidase to avalglucosidase may be associated with improved outcomes in certain patients with LOPD. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 19, 2024 Category: Genetics & Stem Cells Source Type: research
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families
Conclusion: Our findings revealed that VUSs in DNA repair genes might be associated with increased cancer risk and highlight the need for variant reclassification for better disease management. This will help to improve the genetic diagnosis and therapeutic strategies of cancer patients not only in Tunisia but also in neighboring countries. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 19, 2024 Category: Genetics & Stem Cells Source Type: research
Unveiling the genetic basis of Fusarium wilt resistance in chickpea using GWAS analysis and characterization of candidate genes
In this study, a Genome-wide Association Analysis (GWAS) was conducted to identify multiple genomic loci associated with FW resistance in chickpea. We conducted a comprehensive evaluation of 180 chickpea genotypes for FW resistance across three distinct locations (Ethiopia, Tunisia, and Lebanon) during the 2-year span from 2015 to 2016. Disease infection measurements were recorded, and the wilt incidence of each genotype was calculated. We employed a set of 11,979 single nucleotide polymorphisms (SNPs) markers distributed across the entire chickpea genome for SNP genotyping. Population structure analysis was conducted to d...
Source: Frontiers in Genetics - January 19, 2024 Category: Genetics & Stem Cells Source Type: research
The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics
Vascular malformations are congenital lesions that occur due to mutations in major cellular signalling pathways which govern angiogenesis, cell proliferation, motility, and cell death. These pathways have been widely studied in oncology and are substrates for various small molecule inhibitors. Given their common molecular biology, there is now a potential to repurpose these cancer drugs for vascular malformation care; however, a molecular diagnosis is required in order to tailour specific drugs to the individual patient’s mutational profile. Liquid biopsies (LBs), emerging as a transformative tool in the field of oncolog...
Source: Frontiers in Genetics - January 18, 2024 Category: Genetics & Stem Cells Source Type: research
Full-length transcriptome characterization of Platycladus orientalis based on the PacBio platform
As a unique and native conifer in China, Platycladus orientalis is widely used in soil erosion control, garden landscapes, timber, and traditional Chinese medicine. However, due to the lack of reference genome and transcriptome, it is limited to the further molecular mechanism research and gene function mining. To develop a full-length reference transcriptome, tissues from five different parts of P. orientalis and four cone developmental stages were sequenced and analyzed by single-molecule real-time (SMRT) sequencing through the PacBio platform in this study. Overall, 37,111 isoforms were detected by PacBio with an N50 le...
Source: Frontiers in Genetics - January 18, 2024 Category: Genetics & Stem Cells Source Type: research
Historical evolution of cancer genomics research in Latin America: a comprehensive visual and bibliometric analysis until 2023
Conclusion: Over the course of the past 26 years, a favorable and notable evolution has characterized cancer genomics research within Latin America, with Brazil leading the way, which possess a robust network of regional and intercontinental collaboration. Furthermore, the lines of research and hot topics have change in harmony with the region’s objectives, strategies, and requisites. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 18, 2024 Category: Genetics & Stem Cells Source Type: research
Genome of Raphanus sativus L. Bakdal, an elite line of large cultivated Korean radish
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 18, 2024 Category: Genetics & Stem Cells Source Type: research
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
Conclusion: Our findings ended the diagnostic odyssey for this family and provide further insights into the genetic and clinical spectrum of this critically under-studied disorder. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 18, 2024 Category: Genetics & Stem Cells Source Type: research
Corrigendum: Cytokinin and abiotic stress tolerance -What has been accomplished and the way forward?
(Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 17, 2024 Category: Genetics & Stem Cells Source Type: research
Salmon louse labial gland enzymes: implications for host settlement and immune modulation
This study, thereby, emphasizes the importance of labial gland proteins for host settlement and their immune dampening function. This work can further contribute to anti-salmon louse treatment such as vaccine development, functional feed, or gene-edited salmon louse-resistant Atlantic salmon. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 17, 2024 Category: Genetics & Stem Cells Source Type: research
Epigenetic mechanisms of particulate matter exposure: air pollution and hazards on human health
Environmental pollution nowadays has not only a direct correlation with human health changes but a direct social impact. Epidemiological studies have evidenced the increased damage to human health on a daily basis because of damage to the ecological niche. Rapid urban growth and industrialized societies importantly compromise air quality, which can be assessed by a notable accumulation of air pollutants in both the gas and the particle phases. Of them, particulate matter (PM) represents a highly complex mixture of organic and inorganic compounds of the most variable size, composition, and origin. PM being one of the most c...
Source: Frontiers in Genetics - January 17, 2024 Category: Genetics & Stem Cells Source Type: research
An in silico approach to identify potential downstream targets of miR-153 involved in Alzheimer ’s disease
Conclusion: These findings unravel the potential role of miR-153 in the pathogenesis of AD and provide the basis for forthcoming experimental studies. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 16, 2024 Category: Genetics & Stem Cells Source Type: research
