2025 September - 129 articles
Background: The functional role of GhZFP8 (a zinc finger protein gene) in plant growth and development remains unclear. Methods: This study investigated phenotypic and transcriptomic changes in GhZFP8-transgenic vs. wild-type Arabidopsis to clarify G...
Background: Extra digits on the hands and/or feet are a frequent condition known as polydactyly. Twelve nonsyndromic polydactyly genes have been identified, including KIAA0825. Methods: Four consanguineous Pakistani families that segregate nonsyndrom...
Background/Objectives: Leaf sheath hairiness (LSH) is an adaptive trait in wheat that improves tolerance to biotic and abiotic stresses. Although trichome development has been extensively studied in model plants, the genetic basis of LSH in Triticeae...
Background/Objectives: Most genes involved in the pathogenesis of Metabolic Syndrome (MS) and Type 2 Diabetes Mellitus (T2DM) are regulated by peroxisome proliferator-activated receptors (PPARs), which modulate the production of pro-inflammatory cyto...
Background/Objectives: The mutational dynamics of microsatellites over deep evolutionary timescales are poorly understood. This study aims to elucidate the life history of trinucleotide microsatellites by tracing orthologous loci across divergent ver...
Background/Objectives: Detecting high-order epistatic interactions in genome-wide association studies (GWAS) is essential for understanding complex diseases, yet most existing approaches are limited to pairwise interactions. We propose GPBSO (Gene Po...
Background: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key regulator of lipid metabolism. The rare PCSK9 C378W (rs776752113) mutation influences the level of low-density lipoprotein cholesterol (LDL-C); however, its association with P...
Background: Obesity poses a significant threat to human health and is commonly caused by excessive dietary intake. Phosphatidic acid (PA) is one of the simplest diacylglycerol phospholipids, serving as a crucial precursor for the synthesis of triglyc...
Background: Major depressive disorder (MDD) and inflammatory bowel disease (IBD) form a “bidirectional vicious cycle” through the gut–brain axis: psychological and emotional abnormalities can induce intestinal inflammation, while in...
Background: As a globally significant aquaculture species, elucidating the molecular mechanisms underlying the regulation of the Pacific White Shrimp (Litopenaeus vannamei) growth holds substantial scientific and industrial value. This study systemat...
Background: Understanding the genetic mechanisms and identifying potential therapeutic targets are essential for clarifying Autism Spectrum Disorder (ASD) etiology and improving treatments. This study aims to bridge the gap between basic transcriptom...
Background/Objectives: The evolution of gene expression responses is a critical component of population adaptation to variable environments. Predicting how DNA sequence influences expression is challenging because the genotype-to-phenotype map is not...
Background: Argas persicus is a hematophagous ectoparasite of poultry and is the vector of several agents infectious to poultry. This study aims to explore the key genes affecting the ovarian development of A. persicus. Methods: RNA-seq was perf...
Background/Objectives: Understanding variabilities in the Major Histocompatibility Complex class I (MHC I) gene is essential for evaluating immunogenetic diversity in clariid catfish. MHC I plays a critical role in immune defense by presenting endoge...
Background/Objectives: Interpretation of mixture profiles generated from crime scene samples is an important element in forensic genetics. Here, a workflow for mixture deconvolution of sequenced microhaplotypes (MHs) and STRs using the probabilistic...
Background/Objectives: Telomeres and the enzyme telomerase play essential roles in cellular aging and cardiovascular health. Physical activity is thought to influence telomere dynamics via upregulation of the hTERT gene, which encodes the catalytic s...
Background/Objectives: Fissidens crispulus Brid. is a dioicous moss with conspicuous axillary hyaline nodules and serrulate leaf margins. It features Neoamblyothallia-type peristome teeth and serves as an ecologically significant model for studying a...
Background/Objectives: Developmental biologist Conrad Waddington proposed that evolution is shaped not only by genetic mutations and natural selection but also by environmentally responsive developmental mechanisms. Building on this premise, the epig...
Polycystic ovarian syndrome (PCOS) is one of the most common endocrine and metabolic conditions affecting women of reproductive age. This condition affects around 20% of this demographic and is characterized by polycystic ovarian morphology, hyperand...
Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by left ventricular hypertrophy in the absence of secondary causes. This study aimed to investigate the genetic, clinical, and epidemiological profile of indivi...
Background: Autism spectrum disorder (ASD) is a common condition with substantial personal and financial burdens of lifelong implication. Multiple twin studies have confirmed a genetic or inherited component at ~80%, higher than any other common cond...
Background: Bahiagrass (Paspalum notatum), a key cultivated grass worldwide, includes both sexual diploid and apomictic tetraploid cytotypes. Finding new diploid populations is crucial for the species’ genetic improvement and conservation. Obje...
Background/Objectives: The Jiangnan cashmere goat is a newly developed national cashmere goat breed in China, and the genetic stability of its traits is the core of breeding work. Methods: This study used 353 Jiangnan cashmere goats as research subje...
Diabetic retinopathy (DR) is a common sight-threatening complication of diabetes. Overall, 26% of the 37 million Americans with diabetes suffer from DR, and 5% of people with diabetes suffer from vision-threatening DR. DR is a heterogeneous disease;...
Background/Objectives: Inactivation of the dnd gene involved in the development of primordial germ cells (PGCs) leads to the loss of gametes and halts reproductive development. Studies on sterile fish allow for the identification of genes and process...
Background/Objectives: Fluorescence in situ hybridization (FISH) is a standard diagnostic tool for detecting gene fusions and rearrangements in lymphomas but is limited by incomplete genomic coverage, dependence on predefined probes, and difficulty i...
Background: Sinorhizobium fredii HH103 is a fast-growing rhizobial strain capable of infecting a broad range of legumes, including plants forming determinate and indeterminate nodules, such as Glycine max (its natural host) and Glycyrrhiza uralensis,...
Background/Objectives: Schizophrenia (SCZ) is a highly heritable mental disorder with a complex polygenic genetic architecture. The heat shock protein 90 alpha (HSP90α), encoded by the HSP90AA1 gene, is a molecular chaperone that is required fo...
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is an inherited disease with genetic and phenotypic variability and an unclear genotype–clinical course relationship. The aim of our study was to assess the phenotypic and molecular chara...
Background/Objectives: The Structural Maintenance of Chromosomes (SMC) proteins form essential heterocomplexes for the preservation of DNA structure and its functions, and hence cell viability. The SMC5/6 dimer is assembled by direct interactions of...
Background/Objectives: This study was aimed to investigate the safety profile of traditional Montenegrin Njeguški cheese by quantifying genes associated with resistance to clinically important antibiotics. Methods: Samples of Njeguški c...
Inherited retinal dystrophies (IRDs) represent a diverse group of disorders caused by mutations in genes essential for retinal function and maintenance. Traditional bulk RNA sequencing techniques provide valuable information for deciphering disease p...
Background: Ash dieback, driven by the invasive fungal pathogen Hymenoscyphus fraxineus, has precipitated severe declines in Fraxinus excelsior L. populations across Europe, threatening genetic diversity and ecosystem stability. Methods: This study i...
Background/Objectives: Anderson–Fabry disease (AFD) presents with a wide spectrum of clinical manifestations, influenced by the underlying GLA genotype. While classical variants are typically associated with early-onset, multisystemic involveme...
Background/Objectives: Ulcerative colitis is a chronic inflammatory bowel disease whose incidence is steadily growing worldwide. The interactions between host genetic susceptibility, gut microbiota and environmental factors determine the onset and re...
To survive in saline environments, plants establish complex symbiotic relationships with soil microorganisms, including halotolerant arbuscular mycorrhizal fungi (AMF). The main objective of this study was to uncover how inoculation with a consortium...
Background: While the fundamental principles of chromatin 3D organization and its interplay with transcriptional regulation are still not completely understood, increasing evidence suggests a considerable role of DNA repeats. Considering the influenc...
Preimplantation genetic testing (PGT) reports play a decisive role in determining the fate of IVF-generated embryos. The identification of a chromosomal or genetic abnormality that could impact the health of the resulting newborn often leads to embry...
Background/Objectives: Neurodevelopmental disorders (NDDs) are genetically heterogeneous conditions with a complex molecular etiology involving numerous genes. Biallelic pathogenic variants in INTS1 cause a rare autosomal recessive NDD characterized...
Background/Objectives: While single variants may have only small effects on common heritable traits like schizophrenia, methods for combining such effects over multiple variants have been proposed for more than 30 years. The currently favored approac...
Background/Objectives: This systematic review aimed to gather the most recent evidence regarding the link between genetic polymorphisms and physical performance in team sports, with a focus on the practical utility of this information for athlete sel...
Background/Objectives: APOL1 renal-risk variants (RRVs) are of increasing relevance to kidney disease and transplant outcomes. It is currently understood that the presence of RRVs in donors negatively impacts kidney allograft survival in an auto...
Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an...
Background: Muscle injuries pose a significant challenge in sports, leading to decreased performance and shortened career longevity. Individuals homozygous for the nonsense X allele of the ACTN3 rs1815739 (R577X) polymorphism, characterized by a comp...
Background/Objectives: Blood flows through the body and reaches all tissues, contributing to homeostasis and physiological functions. Providing information and understanding on how the transcriptome of whole blood behaves in response to physiological...
Background/Objectives: Obtaining reliable DNA profiles from archival tissue preserved as formalin-fixed, paraffin-embedded (FFPE) samples remains a major challenge in both forensic and medical evaluations. The quality of DNA isolated from FFPE materi...
The acid phosphatase (AP) test is widely utilised in forensic biology laboratories to examine for the presence of semen on crime evidence. If semen is present, the AP-positive areas are marked on the exhibit to indicate the precise location of the se...
Background/Objectives: The TOPLESS (TPL) and TOPLESS-related (TPR) proteins represent a highly conserved class of transcriptional co-repressors in plants, playing pivotal roles in modulating growth, development, and stress responses through the repre...
Background/Objectives: Retinoic acid (RA) is a transcriptional control agent that regulates several aspects of eye development including invagination of the optic vesicle to form the optic cup, although a target gene for this role has not been previo...
Background/Objectives: The JCHAIN (immunoglobulin-linked chain) is a multimeric IgA and IgM-linked chain whose involvement in oncogenesis and immunomodulation is unknown. The goal of this work was to conduct a comprehensive pan-cancer analysis of the...
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