IL-6 rs1800796 Genotype Variants Among Iraqi Patients Suffering from Sepsis
Abstract
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IL-6 rs1800796 Genotype Variants Among Iraqi Patients Suffering from SepsisAbstract
Sepsis has a complex genetic background; many genes may directly or indirectly affects its development. Since cytokines control the type, severity, and consequences of pathogenesis, they are also involved in some aspects of sepsis. This research aims to investigate the relationship between IL-6 gene polymorphism and sepsis. For this research, a total of 75 patients with sepsis disease and another 75 individuals without the disease were taken as the controls for this genetic study. The IL-6 gene has many high-freque [...] 66 193 |
Integrating Germline and Somatic Pharmacogenomics to Predict Tamoxifen Response in Breast Cancerby
Abstract
Tamoxifen remains a cornerstone in the treatment of estrogen receptor-positive (ER+) breast cancer; however, variability in patient response underscores the necessity of a pharmacogenomic approach. This review integrates germline and somatic pharmacogenomics to elucidate the molecular determinants of tamoxifen metabolism, efficacy, and resistance. Germline polymorphisms, particularly in CYP2D6, CYP3A4/5, UGT2B7, and SULT1A1, significantly influence endoxifen levels, driving therapeutic variability across ethnic pop [...] 195 484 |
Detection of Some β-Lactamase and Aminoglycoside Resistance Genes Among Local Multiple Antibiotic Resistance Klebsiella pneumoniae Isolates in Najaf, IraqAbstract
Klebsiella pneumoniae is an opportunistic pathogen responsible for a wide range of healthcare-associated infections. It is frequently linked to resistance to multiple antibiotic classes and can persist in hospital environments despite infection control measures. This study aimed to evaluate the distribution of antibiotic resistance genes among K. pneumoniae. A total of 38 isolates were obtained from different clinical specimens and identified using the VITEK 2 Compact (GN-ID Card) and PCR targeting 16S rRNA. Multip [...] 222 550 |
Predicting Tumor Mutational Burden in Prostate Cancer Using Deep Learning on Histopathological Imagesby
Abstract
Tumor mutational burden (TMB) is a critical biomarker associated with the response to immunotherapy in prostate cancer. The heterogeneity of tumors can complicate the prediction of TMB, making reliable detection essential for effective treatment planning. Recent advancements in deep learning (DL) have facilitated the analysis of histopathological images, enabling better predictions of TMB. This study utilized the Cancer Genome Atlas (TCGA) cohort of prostate cancer patients, comprising 580 H&E-stained whole slide i [...] 374 920 |
Genomic Mechanisms of Plant Adaptation to Salinity and Drought Stress: Genes, Networks, and Evolutionary Implicationsby
Abstract
Salinity and drought stresses induced by climate change pose critical threats to global food security, necessitating a comprehensive insight of plant adaptive mechanisms at the genomic level. This review brings together recent advances in identifying genes, regulatory networks, and evolutionary strategies underlying plant responses to osmotic stress. We discuss key transcription factor families (DREB, NAC, MYB, and WRKY), ion transporters (SOS pathway, NHX, and HKT), genes involved in osmolyte biosynthesis, and rea [...] 415 1252 |
Mapping Research on Genetics and Educational Outcomes: A Bibliometric Review (1970-2025)Abstract
This bibliometric review analyzes 387 Scopus-indexed publications (1970-2025) on the relationship between genetics and education, retrieved with the query (“Genetics” AND “Academic Performance”) OR (“Heritability” AND “Education”). Research output was minimal until the 2000s, then expanded rapidly with the rise of twin cohorts and, after 2010, large genome-wide association studies (GWAS) and polygenic prediction. Science mapping reveals three thematic clusters: classical heritability studies of cognitive and academ [...] 500 1364 |
Integrative Nutrigenomic Systems Biology Analysis of Traditional Chinese Medicine Interventions in Parkinson’s Disease: Nutrient-Gene-Disease Network Perspectivesby
Abstract
The pathology of PD is characterized by progressive degeneration of dopaminergic neurons, although the full regulatory network involved in this process is not yet fully established. The present research employed a multi-omic systems biology design, integrating transcriptomic, functional, epigenetic, and microRNA analyses to develop a mechanistic model of neurodegeneration in the substantia nigra. We have determined six differentially expressed genes, such as tyrosine hydroxylase (TH), solute carrier family 18 membe [...] 621 1274 |
Prenatal Diagnosis of a Low-Level Mosaic Small Supernumerary Marker Chromosome (sSMC): Early Postnatal Clinical Follow-UpAbstract
Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-level mosaic sSMC (8%) was detected during prenatal testing is reported. The sSMC was found in 12 out of 150 metaphases examined by conventional karyotype, followed by molecular cytogenetic analyses ( [...] 439 1198 |
A New Complex Variant 4-Point Break Three-Way Translocation Involving Chromosomes 8, 15 and 17 in a Patient with Acute Promyelocytic Leukemia: A Case Report and Literature Reviewby
Abstract
The genetic hallmark of Acute promyelocytic leukemia (APL) is the balanced reciprocal translocation t(15;17)(q24;q21), resulting in the PML::RARα fusion gene. Although the majority of APL patients carry the typical t(15;17), variant translocations involving three or more chromosomes have also been described. We report a case of a 59-year-old man showing clinical, morphologic, laboratory, and immunophenotypic findings of APL. Cytogenetic analysis revealed a variant complex 4-point break-three-way translocation invol [...] 538 1190 |
Jumping Translocation of Chromosome 11q in De Novo Acute Myeloid Leukemia: A Rare Chromosomal AberrationAbstract
Acute myeloid leukemia (AML) represents a clinically and genetically heterogeneous group of hematologic malignancies. Among the less frequently encountered cytogenetic abnormalities are jumping translocations (JTs), in which a segment from a donor chromosome relocates to multiple recipient chromosomes. Although uncommon, these events have been described in association with clonal evolution and, in some cases, more aggressive disease behavior. Here, we describe a 49-year-old man who presented with fatigue and genera [...] 587 1368 |
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