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...
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...
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...
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,...
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...
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,...
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...
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)...
A novel CD40LG mutation causing X‑linked hyper-IgM syndrome
September 2025
X-linked hyper-IgM (X-HIGM), which results from mutations of the CD40 ligand gene (CD40LG) located on chromosome Xq26.3, is characterized by a defective T-B lymphocyte cross talk and class switch recombination...
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,...
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 characteriz ation of giant axonal neuropathy due to a homozygous c.851+1G>A variant in GAN: a case report and literature review
Available online 23 March 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 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...
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...
Hierarchical clustering defines hypermethylated RSPO2 as early-stage potential biomarker in colorectal cancer
December 2025
Early-stage diagnosis, absence of specific reliable biomarkers, and better clinical management of colorectal cancer (CRC) remain major challenges. The Rspondin2 (RSPO2) gene is one of the most potent...
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...
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...
Integrating multi-omics and mendelian randomization identifies therapeutic targets for Lichen Sclerosus: A druggable genome-wide study
September 2026
Lichen sclerosus (LS) is a chronic inflammatory skin disease characterized by limited treatment options and an unclear pathogenesis. This study aimed to identify potential therapeutic targets for LS...
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...
Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2V617F Mutation
2024
Precise quantification of the JAK2V617F mutation using highly sensitive assays is crucial for diagnosis, treatment process monitoring, and prognostic prediction in myeloproliferative neoplasms’ (MPNs)...
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...
DNA methylation and exosomes in relation to type 2 diabetes in Black South Africans: A pilot study
June 2026
Type 2 diabetes (T2D) is a metabolic disorder characterised by hyperglycaemia, reduced insulin secretion, and increased insulin resistance, yet its mechanisms are not fully understood. While genetic...
Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation
June 2026
Copy Number Variation (CNV) is associated with numerous complex diseases, yet their pathogenicity assessment remains heavily dependent on manual expert review, a process that is cumbersome and time-consuming....