RNA BINDING PROTEINS (RBPs) ON GENETIC STABILITY AND DISEASES
Available online 30 November 2024
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...
Share article
Circadian rhythm, Epigenetics and Disease Interaction
Available online 20 November 2024
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....
Share article
Cytochrome P450 3A gene family and Medication in childhood Nephrotic syndrome: an update
Available online 23 November 2024
Nephrotic syndrome (NS) is a renal disease characterized by excessive proteinuria (greater than 3.5g/dl per 24hours), which results in hypoalbuminemia and leads to hyperlipidemia, edema, and various...
Share article
Genetic Impact of Copy Number Variations on Congenital Heart Defects: Current Insights and Future Directions
Available online 22 November 2024
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...
Share article
A scarce case: co-occurrence of Neurofibromatosis Type 1 and Klinefelter Syndrome
Available online 30 September 2024
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a heterogeneous group of symptoms, including characteristic cafe-au-lait macules, axillary or inguinal freckling, Lisch nodules,...
Share article
The Alarming Situation of Highly Pathogenic Avian Influenza Viruses in 2019-2023
Available online 27 November 2024
Avian influenza viruses (AIVs) have the potential to cause severe illness in wild birds, domestic poultry, and humans. The ongoing circulation of highly pathogenic avian influenza viruses (HPAIVs) has...
Share article
The pathogenesis of B-cell non-hodgkin lymphoma associated with HBV (hepatitis B virus) infection is regulated by c-Myc/PD-L1 signaling pathway
Available online 24 August 2024
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...
Share article
A novel CD40LG mutation causing X‑linked hyper-IgM syndrome
Available online 20 November 2024
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...
Share article
Research progress of circular RNA FOXO3 in diseases(Review)
Available online 5 October 2024
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...
Share article
Polydactyly and Syndactyly Linked to GLI3 and TBX5 Mutations: a Pediatric case report
Available online 30 November 2024
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...
Share article
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, Diagnosis and Genetic variability through Next Generation sequencing
Available online 16 December 2024
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...
Share article
Phenotypic variability in two siblings with Poretti-Boltshauser syndrome
Available online 22 November 2024
Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor...
Share article
The genetic susceptibility of SOD2 gene polymorphism in sudden sensorineural hearing loss (SSNHL)
Available online 27 November 2024
The genic etiology of sudden sensorineural hearing loss (SSNHL) is associated with gene polymorphism which is related to oxygen metabolism of cochlear hair cells....
Share article
ABO blood type and urinary bladder cancer: phenotype, genotype, allelic association with a clinical or histological stage and recurrence rate
Available online 25 November 2024
Previous research on connection between the ABO blood group and bladder cancer has been based on determining the ABO phenotype. This specific research is extended to the molecular level, providing more...
Share article
Case report: Recurrent cerebral venous sinus thrombosis occurred in an acute lymphoblastic leukemia child with mutated lipoprotein lipase gene during asparaginase therapy
Available online 28 November 2024
Cerebral venous sinus thrombosis (CVST) and hyperlipidemia are severe complications of L-Asparaginase (L-Asp) during the treatment of B-cell acute lymphoblastic leukemia (B-ALL). Herein, we reported...
Share article
46 XX Ovotesticular DSD with GNRHR, autosomal recessive heterozygous missens mutation and autosomal dominant heterozigous missense mutation of the PROKR2 gene, a case report.
Available online 26 November 2024
True hermaphroditism it’s a disorder of sex development (DSD), accounting for less than 5% of all DSD cases, defined by the simultaneous presence of testicular tissue and ovarian tissue in the same...
Share article
Endothelial Nitric Oxide Synthase (eNOS) Gene 4a/b Polymorphism and Risk of Diabetic Retinopathy: Meta-analysis
Available online 27 November 2024
To investigate the correlation between endothelial nitric oxide synthase (eNOS) gene 4a/b polymorphism and risk of diabetic retinopathy (DR) by combination of open published data....
Share article
Noncoding RNAs evolutionarily extend animal lifespan
Available online 7 December 2024
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...
Share article