Synonymous single nucleotide variants (sSNVs) are often considered functionally silent, but a few cases of cancer-causing sSNVs have been reported. From available databases, we collected four categories of sSNVs: germline, somatic in normal tissues,...
Single-nucleotide variants (SNVs) are a major form of genetic variation in the human genome that contribute to various disorders. There are two types of SNVs, namely non-synonymous (missense) variants (nsSNVs) and synonymous variants (sSNVs), predomi...
Cardiovascular diseases are a large contributor to causes of early death in developed countries. Some of these conditions, such as sudden cardiac death and atrial fibrillation, stem from arrhythmias—a spectrum of conditions with abnormal electrical a...
Background: Inflammatory bowel disease (IBD) is defined as recurrent inflammatory bowel disorders, the most common of which are Crohn’s disease (CD) and ulcerative colitis (UC). Tumor necrosis factor inhibitors (anti-TNFs), primarily adalimumab...
Background/Objectives: Alzheimer’s disease (AD) is a progressive neurodegenerative condition whose growing prevalence has become an increasingly important public health concern as the population ages. The lack of a definitive cure elevates the...
The Canary Islands, a region with high asthma prevalence, are frequently exposed to Saharan Dust Intrusions (SDIs), as are a wide range of countries in Europe. Alpha-1 antitrypsin (SERPINA1 gene) regulates the airway’s inflammatory response. Th...
The number of people suffering from metabolic syndrome (MetS) including type 2 diabetes (T2DM), hypertension, and obesity increased over 10 times through the last 30 years and it is a severe public health concern worldwide. Uncoupling protein 1 (UCP1...
Within-host evolution plays a critical role in shaping the diversity of SARS-CoV-2. However, understanding the primary factors contributing to the prevalence of intra-host single nucleotide variants (iSNVs) in the viral population remains elusive. He...
While the role of G quadruplex (G4) structures has been identified in cancers and metabolic disorders, single nucleotide variations (SNVs) and their effect on G4s in disease contexts have not been extensively studied. The COSMIC and CLINVAR databases...
A better understanding of the molecular pathogenesis of thymic epithelial tumours (TETs) could revolutionise their treatment. We evaluated thymomas and thymic carcinomas by next-generation sequencing (NGS) of somatic or germline single nucleotide var...
The genetic contributions of Neanderthals to the modern human genome have been evidenced by the comparison of present-day human genomes with paleogenomes. Neanderthal signatures in extant human genomes are attributed to intercrosses between Neanderth...
Mycoviruses are ubiquitous in pathogenic fungi including Sclerotinia sclerotiorum. Using RNA sequencing, more mycoviruses have been identified in individual strains, which were previously reported to be infected by a single mycovirus. A hypovirulent...
For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examin...
With the development of the oil industry and the increasingly complex drilling environment, the performance of drilling fluids has to be constantly improved. In order to solve the problem of bentonite dispersion and hydration in a saline medium, a dr...
Infectious bronchitis virus (IBV) commonly produces a range of genetic sequences during replication, particularly in the spike 1 (S1)-coding portion of the S gene, leading to distinct subpopulations within the broader viral population. It has been sh...
Atrazine persistence poses serious environmental threats. This study used metagenomics and qPCR to elucidate the remediation mechanism of vermicompost in atrazine degradation pathways. Seven treatments were established: unsterilized soil (CKn); steri...
Infectious bronchitis virus (IBV) of the GI-23 lineage, which first emerged in the Middle East in the late 1990s, has since spread worldwide. The factors driving its expansion, whether human involvement, wild bird migration, or the virus’s biol...
Partial least squares regression (PLSR) prediction models were developed using hyperspectral imaging for noninvasive detection of the five most representative functional components in Brassica juncea leaves: chlorophyll, carotenoid, phenolic, glucosi...
Firmness changes in Nanguo pears under different freezing/thawing conditions have been characterized by hyperspectral imaging (HSI). Four different freezing/thawing conditions (the critical temperatures, numbers of cycles, holding time and cooling ra...
This study investigated the association between maximum standardized uptake values (SUVmax) on preoperative 18-FDG PET-CT and next-generation sequencing (NGS) results in post-surgical ovarian malignant tissue in patients with advanced ovarian cancer....
Background/Aims: across protein-coding genes, single nucleotide allelic variants (SNVs) affect antidiabetic drug pharmacokinetics, thus contributing to interindividual variability in drug response. SNV frequencies vary across different populations. S...
As the number of subjects choosing vegan diets increases, healthcare providers must be prepared to give the best advice to vegan patients during all stages of life. A completely plant-based diet is suitable during pregnancy, lactation, infancy, and c...
Acute lymphoblastic leukemia represents the most prevalent childhood cancer. Modern chemotherapy has significantly improved outcomes, achieving EFS rates of 80% and OS rates nearing 90% in developed nations, while in developing regions, rates remain...
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common m...
Conventional methods for the detection and differentiation of Bacillus cereus group species have drawbacks mostly due to the complexity of genetic discrimination between the Bacillus cereus species. Here, we describe a simple and straightforward assa...
Targeted therapies are a new paradigm in lung cancer management. Next-generation sequencing (NGS) techniques have allowed for simultaneous testing of several genes in a rapid and efficient manner; however, there are other molecular diagnostic tools s...
In modern agricultural production, accurately estimating the leaf water content (LWC) of Korla fragrant pear is crucial for achieving scientific irrigation and ensuring fruit quality. However, constructing accurate and effective LWC prediction models...
Background: HLA-DRB1 is the most polymorphic gene in the human leukocyte antigen (HLA) class II, and exon 2 is critical because it encodes antigen-binding sites. This study aimed to detect functional or marker genetic variants of HLA-DRB1 exon 2 in r...
According to several studies, inflammatory factors could be related to the pathogenesis of idiopathic restless legs syndrome (RLS). In addition, RLS and Parkinson’s disease (PD) have shown a possible relationship, and recent studies have shown...
Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial CRC. An integrated analysi...
Oat is a highly nutritious cereal crop, and the moisture content of its seeds plays a vital role in cultivation management, storage preservation, and quality control. To enable efficient and non-destructive prediction of this key quality parameter, t...
The maturity of tobacco leaves directly affects their curing quality. However, no effective method has been developed for determining their maturity during production. Assessment of tobacco maturity for flue curing has long depended on production exp...
Erwinia amylovora, the causal agent of fire blight, poses a serious threat to several rosaceous plants, especially apples and pears. In this study, a spontaneous streptomycin-resistant E. amylovora strain (EaSmR) was isolated under laboratory conditi...
In the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders. Also, they hold...
Metabolic syndrome (MetS), a significant global health concern, is characterized as a cluster of metabolic abnormalities that elevate the risk of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). Adiponectin, an adipokine secreted by...
The Tibetan Plateau’s distinctive high-altitude environment, marked by extreme cold and reduced oxygen levels, presents considerable survival challenges for both humans and mammals. Natural selection has led to the accumulation of adaptive muta...
In order to improve the utilization efficiency of corn seeds and meet the demand of single-seed seeding technology in agriculture, this study was conducted to explore the effect of freezing damage detection on the endosperm and embryo sides of single...
Sweet potatoes are a substantial source of nutrition and can be added to processed foods in the form of paste. The moisture and starch contents of these potatoes affect the physicochemical properties of sweet potato paste. In this study, the changes...
For the treatment of Multiple Myeloma, proteasome inhibitors are highly efficient and widely used, but resistance is a major obstacle to successful therapy. Several underlying mechanisms have been proposed but were only reported for a minority of res...
Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants (SNVs) and copy-number variants (CNVs) in the...
Decay accelerating factor (DAF/CD55) is targeted by many pathogens for cell entry. It has been implicated as a co-receptor for hantaviruses. To examine the binding of hantaviruses to DAF, we describe the use of Protein G beads for binding human IgG F...
The emergence of new-generation hyperspectral satellites offers more potential for mapping soil properties. This study presents the first assessment of EnMAP (Environmental Mapping and Analysis Program) hyperspectral imagery for soil organic matter (...
Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women, affecting up to 16.6% of reproductive-age women. PCOS symptoms in adolescents comprise oligomenorrhoea/amenorrhoea and biochemical and/or clinical hyperandrogeni...
Human carbonic anhydrase 8 (CA-VIII) is an acatalytic isoform of the
In January 2022, our institution launched a comprehensive cancer genome profiling program on 10 cancer types using a non-IVD solution named the TruSight Oncology 500 Assay provided by Illumina®. The assay analyzes both DNA and RNA, identifying Si...
The soluble solids content (SSC) of blueberry is a key index for evaluating its quality. In view of the demand for rapid non-destructive testing of blueberry SSC and the shortcomings of the existing single-variety testing models in cross-variety appl...
Walnut canker is a common disease in the Xinjiang Uygur autonomous region of China, which is caused by Cytospora chrysosperma. To date, there is no effective control measure for this disease. Infection with mycoviruses has been widely proven to reduc...
(1) Background: The study involves an assessment of the frequency of selected gene variants related to folate uptake and distribution (FOLR1 rs2071010, rs630074, FOLH1 rs61886492, GGH rs11545078, rs3758149 and SLC19A1 rs1051266) in a group of women w...
In order to explore the ever-changing law of soil organic matter (SOM) content in the forest of the Greater Khingan Mountains, a prediction model of the SOM content with a high accuracy and stability has been developed based on visible near-infrared...
Analyzing the information-rich content of RNA can help uncover genetic events associated with social insect castes or other social polymorphisms. Here, we exploit a series of cDNA libraries previously derived from whole-body tissue of different caste...
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