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Frontiers in Genetics
Scopus
ISSN 1664-8021 · Frontiers Media S.A. · 17,125 articles in the index
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Journal Article
KIR AA individuals possess strong inhibitory KIR alleles alongside HLA ligands that are protective against leukemia in the Chinese population
IntroductionThe killer-cell immunoglobulin-like receptor (KIR) gene cluster exhibits complicated diversity in haplotype content, copy-number variation (CNV), and allelic polymorphism. To date, 2,286 distinct KIR alleles have been released in the IPD-KIR Database. However, little is known about the…
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Journal Article
G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is traditionally recognized as a risk factor for drug- or infection-induced hemolytic anemia. Emerging evidence implicates potential roles of G6PD in neurodevelopment, yet its association with rare neurological disorders remains…
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Journal Article
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review
BackgroundPOLR3A gene-related syndrome is a complex genetic disorder with diverse clinical manifestations. Understanding its characteristics is crucial for diagnosis and management. Previous studies have reported various aspects of this syndrome, yet a comprehensive analysis of different Variant…
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Journal Article
Maternal nutrition alters mRNA isoform expression, usage, and splicing dynamics in skeletal muscle of beef cattle offspring
BackgroundMaternal nutrition during gestation plays a critical role in fetal muscle development and long-term metabolic programming; however, its persistent molecular effects on offspring skeletal muscle remain unclear. Therefore, the main objective of this study was to investigate the influence of…
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Journal Article
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
IntroductionComprehensive care for autistic youth with severe symptoms and language impairment includes genetic testing to find underlying causes. Identifying a genetic diagnosis helps determine prognosis, guide treatment, assess recurrence risk, and connect families with targeted resources and…
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Journal Article
Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models
BackgroundThis study aimed to identify novel mutations associated with the progression of gastric cancer by establishing patient-derived xenograft (PDX) models and performing comprehensive genomic characterization of these PDX models and their corresponding primary tumors.MethodsFresh gastric…
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Journal Article
Preliminary analysis of lifestyle and genetic factors for hyperuricemia and gout prevalence in the Yunnan Miao population of China
ObjectivesHyperuricemia and gout are common public health problems, stemming from both genetic and lifestyle factors. Evidence from multi-ethnic regions in Yunnan Province remains limited. This preliminary study examined hyperuricemia and gout prevalence, related biomarkers, lifestyle patterns, and…
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Journal Article
Cross-trait genetic enrichment between GERD and psychiatric disorders in East Asian populations
Gastroesophageal reflux disease (GERD) exhibits significant epidemiological comorbidity with psychiatric disorders, yet their shared genetic architecture remains poorly characterized in East Asian populations. Leveraging ancestry-specific genome-wide association study (GWAS) summary statistics from…
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Journal Article
TCN-5mC: a predictor of 5-methylcytosine sites based on multi-feature fusion and TCN-inspired block networks
Accurate identification of 5-methylcytosine (5 mC) sites in promoter regions is crucial for understanding epigenetic regulation, but experimental methods remain costly and time-consuming, highlighting the need for reliable computational prediction tools. While existing deep learning approaches…
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Journal Article
Mitophagy-related molecular signatures in ulcerative colitis revealed by machine learning and molecular dynamics
IntroductionUlcerative colitis (UC) is a lifelong, chronic inflammatory disorder, characterized by recurrent and diffuse inflammation of the rectal and colonic mucosa. Increasing evidence suggests that impaired mitophagy contributes to immune dysregulation and epithelial injury in UC. However, the…
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Journal Article
Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1–EIF2B5). Clinical manifestations are highly…
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Journal Article
Molecular mechanisms underlying the lifespan and healthspan benefits of dietary restriction across species
Dietary restriction (DR), defined as reduced caloric intake or selective limitation of specific nutrients without malnutrition, is one of the most robust interventions known to extend lifespan and healthspan across species. Studies from yeast to mammals demonstrate that DR elicits conserved…
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Journal Article
Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations
BackgroundSusceptibility to infectious diseases is a result of complex interactions between genomic, environmental, and clinical factors. COVID-19 severity and post-acute sequelae of COVID-19 (PASC) vary widely among individuals, yet its genetic determinants remain underexplored in Indian…
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Journal Article
Alterations in gut microbiota and plasma metabolites in pulmonary arterial hypertension secondary to congenital left-to-right shunt heart disease: potential mechanisms and biomarkers
IntroductionPulmonary arterial hypertension (PAH) secondary to congenital left-to-right shunt heart disease (CL-RSHD) is a life-threatening complication with unclear microbial and metabolic mechanisms. This study investigated gut microbiota and plasma metabolic alterations in CL-RSHD-associated PAH…
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Journal Article
Chromosome-level reference genome of Tylorrhynchus heterochaetus (Annelida, Nereididae)
The Tylorrhynchus heterochaetus, a polychaete benthic invertebrate belonging to the Nereididae family, has emerged as a promising aquaculture species. It is highly regarded for its nutritional profile, with protein accounting for up to 60% of its dry weight, as well as its balanced amino acid…
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Journal Article
Differential effects on tumor progression by APOBEC3A, APOBEC3B, and APOBEC3H Haplotype I in a breast cancer mouse xenograft model
IntroductionThe APOBEC3 family of cytidine deaminases induces somatic mutations that are highly prevalent in cancers, but the functional consequences remain largely unknown.MethodsTo determine these consequences, we exposed MCF7 tumorigenic breast epithelial cells to APOBEC3A, APOBEC3B or APOBEC3H…
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Journal Article
RNA networks of lysosomal-related biomarkers in Parkinson’s disease and their correlations with freezing of gait-associated genes
BackgroundParkinson’s disease (PD) is influenced by various factors, with lysosome function playing a critical role. However, the specific involvement of lysosome-related genes (LRGs) in PD remains unclear.ObjectiveThis study aims to identify biomarkers specific to PD that exhibit robust disease…
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Journal Article
The mechanism and clinical significance of FKBP5 gene DNA methylation in various psychiatric, metabolic and tumor-related diseases
The FK506 Binding Protein 5 (FKBP5) gene encodes a protein that binds to the immunosuppressive agent FK506. FKBP5 expression is regulated by genetic variation and epigenetic mechanisms, including DNA methylation (DNAm). This gene regulates the glucocorticoid receptor (GR), and aberrant FKBP5…
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