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13321
<i>MTHFR</i> Gene Polymorphisms and Cancer Risk in Children and Adolescents: A Systematic Review and Meta-Analysis
Published 2025-01-01“…<b>Methods:</b> After a systematic search of all of the available data, original case–control studies involving children or adolescents with a confirmed diagnosis of any type of cancer and a molecular genetic test of <i>MTHFR</i> gene polymorphisms were included. …”
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13322
The important roles of ERAP1, ERAP2 genes polymorphisms and their DNA methylation levels in pulmonary tuberculosis
Published 2025-02-01“…Abstract Background Genetic variations in endoplasmic reticulum aminopeptidase (ERAP1, ERAP2) genes are associated with the pathogenesis of multiple diseases, including infectious diseases. …”
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13323
Harnessing genomic and bioinformatic data to broaden understanding of leukaemia across continents
Published 2024-01-01“…Current management of acute leukaemia still uses chemo therapy as the main therapy but has many side effects, therefore a new approach is needed to identify genetic factors involved in leukaemia. The aim of this study was to investigate gene variations that have potential pathogenic properties in leukaemia. …”
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13324
Injected Human Muscle Precursor Cells Overexpressing PGC-1α Enhance Functional Muscle Regeneration after Trauma
Published 2018-01-01“…Therefore, the first goal of our project was to optimize the functional regenerative potential of hMPC by genetic modification to overexpress human peroxisome proliferator-activated receptor gamma coactivator 1-alpha (hPGC-1α), key regulator of exercise-mediated adaptation. …”
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13325
Neuron-Specific Glycine Metabolism Links Transfer RNA Epitranscriptomic Regulation to Complex Behaviors
Published 2025-03-01“…None of these phenotypes were observed in mice treated with tunicamycin for chemoactivation of integrative stress response pathways or in mice genetically engineered for decreased glycine tRNA gene dosage. …”
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13326
Savolitinib Induced Pathological Complete Response in Non-small Cell Lung Cancer with MET Amplification: A Case Report
Published 2024-11-01“…METamp is a relatively rare genetic mutation type which can serve as a driver gene to mediate primary and later acquired drug resistance of epidermal growth factor receptor (EGFR)-TKIs. …”
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13327
Multi-omics approaches to deciphering complex pathological mechanisms of migraine: a systematic review
Published 2025-01-01“…., The scope of our review included various aspects of migraine such as ictal and interictal phases; episodic or chronic migraine; menstrual-related migraine; and migraine with or without aura (PROSPERO registration number: CRD42024470268).ResultsA total of 38 studies were ultimately included, highlighting a range of genetic variations, transcriptional abnormalities, protein function alterations, and disruptions in metabolic pathways associated with migraine.These multi-omics findings underscore the pivotal roles played by mitochondrial dysfunction, inflammatory responses, and oxidative stress in the pathophysiology of migraine.ConclusionMulti-omics approaches provide novel perspectives and tools for comprehending the intricate pathophysiology of migraine, facilitating the identification of potential biomarkers and therapeutic targets.Systematic Review Registrationhttps://www.crd.york.ac.uk/PROSPERO/display_record.php?…”
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13328
Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort
Published 2025-12-01“…Hb Hekinan was confirmed by direct DNA sequencing. Additional genetic determinants, including α-thalassemia, β-thalassemia and other variants, were detected using multiplex GAP-PCR, ARMS-PCR or direct DNA sequencing as appropriate.Results: Among 61,997 Hb typing samples, 149 cases of Hb Hekinan were identified in Thai individuals and classified into 8 genotypic groups. …”
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13329
Causal associations between iron levels in subcortical brain regions and psychiatric disorders: a Mendelian randomization study
Published 2025-01-01“…Utilizing two-sample Mendelian randomization (MR) analysis, this study investigates the causal associations between iron level changes in 16 subcortical nuclei and eight major psychiatric disorders, including schizophrenia (SCZ), major depressive disorder (MDD), autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder, bipolar disorder, anxiety disorders, obsessive-compulsive disorder, and insomnia. The genetic instrumental variables linked to iron levels and psychiatric disorders were derived from the genome-wide association studies data of the UK Biobank Brain Imaging and Psychiatric Genomics Consortium. …”
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13330
Gut colonization of Bacteroides plebeius suppresses colitis-associated colon cancer development
Published 2025-02-01“…ABSTRACT Colon cancer development may be initiated by multiple factors, including chronic inflammation, genetic disposition, and gut dysbiosis. The loss of beneficial bacteria and increased abundance of detrimental microbes exacerbates disease progression. …”
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13331
Expression of some circulating microRNAs as predictive biomarkers for prognosis and treatment response in glioblastoma
Published 2025-01-01“…It is characterized by genetic heterogeneity, and an infiltrative nature, and GBM treatment is highly challenging. …”
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13332
Leveraging genomic insights from the neglected malaria parasites P. malariae and P. ovale using selective whole genome amplification (SWGA) approach
Published 2025-02-01“…Abstract Background Systematic genomics-guided population-based studies on the neglected malaria parasites, P. malariae, P. ovale curtisi, and P. ovale wallikeri species remain challenging due to their low parasitemia, underestimation, and lack of comprehensive genetic analysis. Techniques that cost-effectively allow the enriching of the genome of interest from complex genome backgrounds for sequencing studies help immensely to perform genomic analyses. …”
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13333
Uncovering molecular mechanisms of soybean response to 12C6+ heavy ion irradiation through integrated transcriptomic and metabolomic profiling
Published 2025-01-01“…These findings elucidate soybeans' complex molecular reactions to ionizing radiation, helping us understand how radiation-induced genetic and metabolic alterations affect plant growth.…”
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13334
Diminished ovarian reserve is associated to euploidy rate: a single center study
Published 2025-01-01“…The relationship between these biomarkers and embryo chromosomal status remains complex and poorly understood.MethodsWe conducted a retrospective analysis of in vitro fertilization (IVF) cycles performed between 2015 and 2022, involving 773 female patients who underwent IVF and pre-implantation genetic screening for aneuploidy (PGT-A). Our patient cohort was divided into two groups: Group 1, consisting of women who achieved at least one euploid embryo, and Group 2, comprising women who did not.ResultsThe main outcome measures included the rate and number of euploid blastocysts and their correlation with ovarian reserve. …”
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13335
Engineered GM-CSF polarizes protumorigenic tumor-associated macrophages to an antitumorigenic phenotype and potently synergizes with IL-12 immunotherapy
Published 2024-12-01“…The combination therapy also improved the efficacy of CPI in a CPI-resistant genetically-engineered melanoma model and exhibited synergistic antitumor efficacy in a pulmonary metastasis model.Conclusion Our strategy provides a rational design for combination immunotherapy targeting both myeloid and lymphoid compartments through complementary mechanisms.…”
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13336
Phytoalexin deficient 4 is associated with the lesion mimic trait in watermelon clalm mutant (Citrullus lanatus)
Published 2025-01-01“…In this study, we tested a seven-generation family to determine the inheritance and genetic basis of this trait. As revealed by analysis of the lesion mimic mutant clalm, this trait is controlled by a single dominant gene. …”
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13337
A novel virulent core genome multilocus sequence type CT 11424 of Listeria monocytogenes isolate causing stillbirth in Bangladesh
Published 2025-02-01“…Genomic characterization included multilocus sequence typing (MLST), core genome MLST (cgMLST), serotyping, and the presence or absence of virulence genes. Genetic divergence and phylogenetic analyses were conducted to determine the relationship with other reported isolates globally. …”
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13338
A Case of Status Epilepticus in a Patient Experiencing an Acute Attack of Hereditary Angioedema
Published 2025-01-01“…Introduction: Hereditary angioedema (HAE) is a genetic disorder associated with recurrent episodes of angioedema in the absence of urticaria and pruritus. …”
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13339
Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
Published 2025-03-01“…This study combined whole-genome re-sequencing (WGS) data, transcriptomic analysis, and cellular experiments to investigate the genetic basis of feathered feet in Guangxi native chickens. …”
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13340
Genome-wide association analysis and KASP markers development for protein quality traits in winter wheat
Published 2025-02-01“…To expedite the breeding of wheat cultivars with high protein quality, it is necessary to genetically analyze the traits related to quality. A genome-wide association study (GWAS) was conducted to identify the genomic regions responsible for protein quality traits in winter wheat. …”
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