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...
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...
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...
Analysis of IL-6 and IL-1β Gene coding and study on specific clearance using histidine-grafted PVDF membranes
December 2025
Severely infected patients produce large amounts of inflammatory cytokines, such as interleukin-6 (IL-6) and interleukin-1β (IL-1β), leading to a "cytokine storm", which is a clinically refractory condition....
Global comprehensive transcriptomic and proteomic analyses of murine terminal erythroid differentiation
December 2025
Terminal erythroid differentiation (TED) is the maturation process of proerythroblasts into enucleated erythrocytes. Animal models are essential for studying red blood cell disorders....
Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study
December 2025
Persistent toe walking in children is often considered idiopathic; however, increasing evidence suggests that alterations in the PMP22 gene—implicated in Charcot–Marie–Tooth disease type 1 A (CMT1A)...
Genetic susceptibility of IKZF1, ARID5B, and CEBPE polymorphisms to childhood acute lymphoblastic leukemia in Chinese populations: a case-control study
December 2025
This study aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children....
A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review
December 2025
To characterize the clinical features of a fetus with postaxial polydactyly caused by a de novo PRKACB gene variant and to perform a genetic analysis....
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...
Karyogram in neonatology: Necessity or past?
September 2025
This research was conducted at the Clinic for Children's Diseases of the University Clinical Hospital (SKB) Mostar. The aim of this study is to assess the frequency and reasons for performing karyotyping...
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...
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...
Gene frequency and distribution of human platelet antigen-1 to −6, −10, −15, and −21 of platelets donors in Wuhan, China
September 2025
In this study, the frequency of human platelet antigen (HPA) alleles and genotypes of platelet donors in Wuhan was evaluated and differences in HPA distribution between Wuhan and other regions in China...
The role of small extracellular vesicles in post-traumatic stress disorder
September 2025
Post-Traumatic Stress Disorder (PTSD) represents a significant mental health challenge closely associated with the consequences of traumatic experiences. Recently, small extracellular vesicles (sEVs)...
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....
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...
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...
PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance
June 2025
Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype....
Role of agonistic autoantibodies to the angiotensin II type 1 receptor (AT1-AA) in pathogenesis of preeclampsia
June 2025
Preeclampsia(PE) is the most prevalent complication during pregnancy and constitutes a significant cause of morbidity and mortality among pregnant women and their fetuses. Recent studies have demonstrated...
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...
Significant PK variability of plasma-derived FIX concentrates in chinese children with Haemophilia B: A fixed single-dose study of factor IX-CTBB
June 2025
The pharmacokinetics (PK) characters of plasma-derived Factor IX (pdFIX) concentrate in Chinese children with Haemophilia B(HB) have not yet been reported....
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,...
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...
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...