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...
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...
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,...
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)...
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...
Machine learning approach to identify significant genes and classify cancer types from RNA-seq data
December 2025
Cancer remains a leading cause of morbidity and mortality worldwide, with nearly 10 million deaths reported in 2022. In the United States, more than 618,000 deaths are projected to occur in 2025. Traditional...
Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait
June 2026
Galloway-Mowat syndrome (GAMOS) is a rare genetic disorder that is characterized by microcephaly and neurological and renal abnormalities. Ten types of GAMOS exist based on the underlying implicated...
Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review
September 2026
Giant Axonal Neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in the GAN gene, which encodes gigaxonin. The disease typically begins...
Genetic link between metabolic syndrome and coronary artery disease: Insights from genome-wide cross-trait analysis
March 2026
Metabolic syndromes (MeS), marked by central obesity, high blood pressure, abnormal cholesterol and blood sugar, are key cardiovascular disease (especially coronary artery disease, CAD) risk factors....
Identification of core differentially expressed genes for respiratory syncytial virus infection
September 2026
Respiratory syncytial virus (RSV) is a highly contagious pathogen and the predominant cause of upper and lower respiratory tract infections. RSV-specific antiviral drugs are at an early stage, and clinical...
Cross-trait analysis reveals shared genetic architecture between mental health and cardiovascular traits
December 2026
The association between cardiovascular disease (CVD) and mental health (MH) is well established. However, the shared genetic architecture and underlying causal relationships between these conditions...
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease – A systematic review
June 2026
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder primarily caused by pathogenic variants in PKD1 and PKD2. Although molecular testing has revolutionized diagnosis,...
The genetic susceptibility of SOD2 gene polymorphism in sudden sensorineural hearing loss (SSNHL)
March 2025
The genic etiology of sudden sensorineural hearing loss (SSNHL) is associated with gene polymorphism which is related to oxygen metabolism of cochlear hair cells....
The pathogenesis of B-cell non-hodgkin lymphoma associated with HBV (hepatitis B virus) infection is regulated by c-Myc/PD-L1 signaling pathway
March 2025
HBV is closely associated with the incidence of B-NHL (B-cell non-hodgkin lymphoma). This project intends to establish HBV infection-induced B-NHL cells and animal models to clarify the mutual mechanism...
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...
Identification of novel high-risk genes in gastric cancer through single-cell RNA sequencing, eQTL Mendelian randomization, and in vitro validation
December 2025
Current targeted therapies for gastric cancer have limited efficacy, and recently discovered markers have not significantly improved survival rates in patients with gastric cancer. Therefore, it is...
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...
Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model
2024
Dyslexia is a genetic and heritable disorder that has yet to discover the treatment of it, especially at the molecular and drug intervention levels. This review provides an overview of the current findings...
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...
RUNX1 upregulation and RUNX1-ETO depletion inhibits survival of t(8;21)-positive leukemia cells
September 2026
t(8;21) acute myeloid leukemia (AML) is one of the most extensively studied AML subtypes, with the RUNX1-ETO fusion gene playing a crucial role in its pathogenesis. However, targeting this fusion gene...
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,...
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies
March 2026
The Peripheral Myelin Protein 22 (PMP22) gene plays a central role in peripheral nerve myelination, and dosage alterations (deletion, duplication, or point mutation) are established causes of hereditary...