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...
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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...
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Mesenchymal Stem Cells in Clinical Trials for Immune Disorders
Available online 29 November 2024
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Mechanism of genome editing tools and their application on genetic inheritance disorders
Available online 29 November 2024
In the fields of medicine and bioscience, gene editing is increasingly recognized as a promising therapeutic approach for treating pathogenic variants in humans and other living organisms. With advancements...
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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...
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Bridging Innovation Research with Clinical Application: Clinical Trials in Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences
Available online 28 November 2024
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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....
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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...
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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....
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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...
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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...
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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...
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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...
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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...
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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...
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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....
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The Role of CRISPR/Cas9 in Revolutionizing Duchenne Muscular Dystrophy Treatment: Opportunities and Obstacles
Available online 13 October 2024
Duchenne 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...
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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...
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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,...
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Case Report: Alpha6 integrin disorder presenting in childhood with nail dysplasia and onycholysis but no history of fragile or bullous skin changes
Available online 30 September 2024
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from...
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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...
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