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...
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Circadian rhythm, epigenetics and disease interaction
March 2025
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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Cytochrome P450 3A gene family and medication in childhood nephrotic syndrome: An update
March 2025
Nephrotic syndrome (NS) is a renal disease characterized by excessive proteinuria (greater than 3.5 g/dl per 24 h), which results in hypoalbuminemia and leads to hyperlipidemia, edema, and various complications....
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Genetic impact of copy number variations on congenital heart defects: Current insights and future directions
March 2025
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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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...
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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...
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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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Phenotypic variability in two siblings with Poretti-Boltshauser syndrome
March 2025
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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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...
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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....
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A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome
March 2025
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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Research progress of circular RNA FOXO3 in diseases (review)
March 2025
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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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...
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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....
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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,...
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Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum
June 2025
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy...
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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...
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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...
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The Alarming Situation of Highly Pathogenic Avian Influenza Viruses in 2019–2023
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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