Exploring molecular mechanisms of drug resistance in bacteria and progressions in CRISPR/Cas9-based genome expurgation solutions
June 2025
Antibiotic resistance in bacteria is a critical global health challenge, driven by molecular mechanisms such as genetic mutations, efflux pumps, enzymatic degradation of antibiotics, target site modifications,...
RNA binding proteins (RBPs) on genetic stability and diseases
March 2025
RNA-binding proteins (RBPs) are integral components of cellular machinery, playing crucial roles in the regulation of gene expression and maintaining genetic stability. Their interactions with RNA molecules...
Genetic contributions to the stability and satisfaction in Sexual Relationships
June 2025
The stability and satisfaction of sexual relationships are critical determinants of individual well-being and societal cohesion. While much is known about the psychological and social factors influencing...
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing
March 2025
Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and...
A comprehensive comparison of third generation epidermal growth factor receptor tyrosine kinase inhibitors in the treatment efficacy and adverse events: A Bayesian meta-analysis
September 2025
It is a challenge for clinicians to choose the optimal third generation EGFR-tyrosine kinase inhibitors (EGFR-TKIs) treatment for individual patients. In this meta-analysis we compare the efficacy of...
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors
2024
The fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations,...
A review of the immunogenetics of Stevens-Johnson syndrome and toxic epidermal necrolysis
September 2025
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are very rare dermatologic disorders characterized by extensive detachment of the epidermis. Although some drugs, infectious agents,...
Clinical medication guidance for hypertension personalization through pharmacogenomic research and analysis
September 2025
We investigated the distribution of polymorphisms in five hypertension-related drug-target genes including cytochrome P450 2C9*3 (CYP2C9 *3), angiotensin II receptor type 1(AGTR1) (1166 A>C), cytochrome...
Real-world prognostic factors for first-line EGFR-TKI efficacy in advanced NSCLC patients harboring EGFR 21 L858R mutation
June 2025
This study aimed to investigate the prognostic factors for the treatment efficacy of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) in non-small cell lung cancer (NSCLC) patients...
Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review
September 2025
We report on a rare 110 kilobase contiguous gene deletion within chromosome region Xq28, encompassing 7 annotated Online Mendelian Inheritance in Man (OMIM) genes and extending from BCAP31 to the telomeric-located...
Circadian rhythm, epigenetics and disease interaction
March 2025
Identifying the circadian clock first provided the genetic basis for behaviour, and our understanding of circadian rhythms has since expanded to provide molecular insight into disease and physiology....
Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update
March 2025
Nephrotic syndrome (NS) is a renal disease characterized by excessive proteinuria (greater than 3.5 g/dl per 24 h), which results in hypoalbuminemia and leads to hyperlipidemia, edema, and various complications....
Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report
March 2025
Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation...
Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research
2024
Although gastrointestinal stromal tumors (GISTs) has been reported in patients of all ages, its diagnosis is more common in elders. The two most common types of mutation, receptor tyrosine kinase (KIT)...
Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
June 2025
Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder causing muscle degeneration and multisystem involvement, requiring precise genetic diagnosis for timely intervention and treatme...
CRISPR–Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications
2024
CRISPR–Cas9 gene editing, leveraging bacterial defense mechanisms, offers precise DNA modifications, holding promise in curing genetic diseases. This review critically assesses its potential, analyzing...
Genetic impact of copy number variations on congenital heart defects: Current insights and future directions
March 2025
Congenital heart defects (CHDs) are the most prevalent congenital abnormalities, and they are commonly associated with genetic alterations, namely copy number variants. CNVs, which are duplications...
Identification of core gene-gut microbiome associations in diverticulitis patients through a two-sample mendelian randomization and bioinformatics-based investigation
September 2025
Previous studies have suggested a potential link between the gut microbiota and diverticulitis. However, the causal relationships as well as underlying mechanisms remain unclear....
Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors
2024
The fusion genes NRG1 and NRG2, members of the epidermal growth factor (EGF) receptor family, have emerged as key drivers in cancer. Upon fusion, NRG1 retains its EGF-like active domain, binds to the...
Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study
September 2025
Hereditary cancers are the consequence of inherited genetic variants that increase the risk of cancer development. The susceptibility to hereditary cancers can be increased by a combination of variable...
Noncoding RNAs evolutionarily extend animal lifespan
June 2025
The mechanisms underlying the evolution of lifespan across organisms remain mysterious. This study computes multiple large datasets and reveals that noncoding RNAs (ncRNAs), rather than proteins, drive...
Characterization of stem cell landscape and identification of stemness-related gene ENY2 in colorectal cancer by intergrated transcriptomic analysis
December 2025
Cancer stem cells (CSCs) drive colorectal cancer (CRC) progression, metastasis, and therapy resistance, but their heterogeneity limits targeted treatment efficacy. Clarifying the stemness landscape...
Potential Mechanism and Perspectives of Mesenchymal Stem Cell Therapy for Ischemic Stroke: A Review
2024
Mesenchymal stem cells (MSCs), as a stem cell type with multiple differentiation potentials and immune regulatory abilities, have shown broad prospects in the treatment of ischemic stroke in recent...
Research progress of circular RNA FOXO3 in diseases (review)
March 2025
Circular RNAs (circRNAs) are a newly discovered class of endogenous non-coding RNAs with a closed-loop structures, and they exert crucial regulatory functions in diverse biological processes and disease...
The Role of CRISPR/Cas9 in Revolutionizing Duchenne's Muscular Dystrophy Treatment: Opportunities and Obstacles
2024
Duchenne's muscular dystrophy (DMD) is a severe X-linked disorder characterized by progressive muscle degeneration, leading to loss of ambulation, respiratory failure, and premature death. It affects...