Congenital biliary dilatation (CBD) is a prevalent congenital biliary disease in children, particularly in Asian populations, yet its etiology remains poorly understood. This study aimed to investigate the genome-wide DNA methylation profile in the peripheral blood of children with CBD to identify potential epigenetic mechanisms involved in its pathogenesis. Genome-wide DNA...
The purpose of this study was to explore the role of immune modulation and iron metabolism disorder in the pathogenesis of osteoarthritis. We performed a systematic analysis of datasets and immune infiltration of osteoarthritis and healthy cartilage tissues, to obtain differences in genes expression and immune cell infiltration related to iron metabolism between two samples. The...
CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails. Additional multisystem involvement in these five people have included neurologic, cardiac, ophthalmologic and endocrine problems. We report a sixth person with novel compound...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely characterized. Two patients presented to department of Rheumatology, the 3rd Affiliated Hospital of Sun Yet-sen University with progressive proximal muscle weakness. A 2...
Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystemic disorder caused by ATM variants. It is characterized by progressive cerebellar ataxia, telangiectasia, susceptibility to malignancies and variable immunodeficiency. Patients have phenotypic heterogeneity, especially those with variant A-T form, posing challenges for early diagnosis and intervention...
Intrauterine growth restriction (IUGR) with rapid postnatal catch-up growth has been associated with adipose tissue inflammation and metabolic dysfunction. The long-term persistence of these abnormalities and their relationship with different catch-up growth patterns remain unclear. To investigate the long-term metabolic consequences of IUGR in relation to different catch-up...
The growing knowledge of long non-coding RNA (LncRNA) has suggested the role and predictive potential of LncRNA in cancer, but has not been translated into effective practical tools. The morbidity of colorectal cancer (CRC) has been declining because of effective screening tools. However, the mechanism of the disease is not well understood. The LncRNAs that extracted using...
As the building blocks of proteins and precursors of many other important compounds, amino acids play a vital role in the biochemical processes needed to sustain life. The branched-chain amino acids (BCAAs) are unique in their structure and function, as they are metabolized in muscle tissue and play important roles in protein synthesis and energy production. However, despite...
Necroptosis, a regulated form of programmed cell death, exacerbates inflammatory responses by releasing damage-associated molecular patterns and inflammatory factors. However, the specific mechanisms underlying necroptosis in periodontitis remain largely unclear. This study integrated single-cell RNA sequencing (scRNA-seq) and bulk RNA sequencing (RNA-seq) data to identify core...
Stomach adenocarcinoma (STAD) poses a major public health challenge across various populations, necessitating the construction of robust models for prognostic prediction and effective clinical therapies. Dysregulation of lactylation, a key regulatory mechanism in cell metabolism and gene expression, can either impede or promote tumor growth and metastasis. This study got into the...
Humans are exposed to ionizing radiation (IR), which causes direct and indirect DNA damage. Biodosimetry is a critical component of clinical care following radiation exposure, enabling accurate assessment and mitigation of health effects. The present study was conducted to investigate the ex vivo expression of the genes TNFRSF10B, ZMAT3, PLK2, and POLH in human peripheral blood...
Alzheimer’s disease (AD) is the most common neurodegenerative disorder, affecting over 32 million people globally. The variability in treatment response to AD medications is influenced by genetic factors, sex, comorbidities, and medication history. Pharmacogenomics, the study of how an individual’s genetic makeup influences drug response, offers a promising approach to...
The incidence of abdominal aortic aneurysm (AAA) has been reported to be associated with rheumatoid arthritis (RA). This research aimed to analyze the co-pathogenesis of AAA and RA through bioinformatics and clinical data. Microarray and single-cell RNA sequencing (scRNA-seq) datasets for AAA and RA were obtained from the Gene Expression Omnibus (GEO). Differentially expressed...
Glioblastoma (GBM), the most malignant central nervous system cancer, has a median survival rate of 14–16 months. GBM patients have a poor prognosis despite rigorous multi-modal treatments like surgical resection, chemotherapy, and radiation. A systematic bioinformatics analysis of GXA gene expression datasets showed thirty-three overexpressed genes in GBM that were enriched in...
The intrapatient variability (IPV) of tacrolimus (Tac) has gradually become a new index for the prognosis of organ transplantation. The gene polymorphism is involved in the pharmacokinetic process of Tac. The aim of this study was to investigate the effects of genetic polymorphisms on Tac IPV and other clinical outcomes in heart transplant recipients during the early post...
Hypothalamic dysfunction occurs in alcohol use disorder (AUD). Here, we investigated the effects of alcohol exposure on hypothalamic gene expression in mice, and examined the role of the hypothalamus in AUD pathogenesis. An alcohol exposure model was constructed in male C57BL/6 mice using the two-bottle drinking method. Transcriptome sequencing was used to analyze differential...
This study aimed to explore the role of long non-coding RNA cancer Susceptibility 15 (CASC15) and microRNA (miR)-940 in atherosclerosis (AS) and to elucidate their potential mechanisms of action using an in vitro cell model of AS. Human umbilical vein endothelial cells (HUVECs) were subjected to oxidized low-density lipoproteins (ox-LDL) induction to establish an atherosclerotic...
Wiedemann-Steiner syndrome (WSS) is a genetic malformation syndrome caused by abnormalities in KMT2A. It is characterized by developmental delays, facial dysmorphism, hypertrichosis, failure to thrive, and musculoskeletal anomalies. Expanded applications of exome sequencing have increased the number of confirmed cases, broadening our understanding of the WSS spectrum. We...
Due to its predictable pharmacodynamics and pharmacokinetics, stable blood concentration, and relatively short half-life, rivaroxaban is widely used in the prevention and treatment of thrombosis. It nevertheless exhibits a certain level of inter-individual variability, and its safety concerns, including bleeding, are also becoming more noteworthy. This paper describes an elderly...
Liver fibrosis is a common pathological process in chronic liver diseases and effective treatments are lacking. The activation of hepatic stellate cells (HSCs) is a critical step in the development of liver fibrosis. Our previous research confirmed that bone marrow mesenchymal stem cell-derived exosomes (BMSC-exosomes) could regulate the level of miR-223-3p to alleviate...
Lung adenocarcinoma (LUAD) is a leading cause of cancer-related mortality globally, necessitating finding novel therapeutic targets. Mitochondrial autophagy (mitophagy) and ferroptosis have emerged as promising avenues in cancer research. This study aimed to identify mitophagy- and ferroptosis-related genes (MiFeRGs) in LUAD and develop a prognostic risk model based on these...
Breast cancer (BC) is the most prevalent cancer globally. Carriers of pathogenic variants in high- or moderate-penetrance genes, have an increased risk of developing hereditary BC (HBC). While, MUTYH is known to be associated with hereditary colonic polyposis and colorectal carcinoma, its role in BC is controversial. This study investigated the genetic cause of HBC in an Iranian...
Alzheimer’s disease (AD) and Parkinson’s disease (PD) share neuroinflammatory features, yet their common immune-related mechanisms remain unclear. We integrated microarray datasets from AD/PD brain tissues to identify immune-related genes (IRGs). Hub genes were prioritized via protein-protein interaction (PPI) networks and validated using a Parkinson’s dementia (PDD) cohort and...
Ischemic stroke (IS), a leading cause of global disability and premature mortality, results from cerebral artery occlusion and subsequent ischemic necrosis. Fatty acid metabolism (FAM) plays a crucial role in energy supply and oxidative damage associated with IS, yet reliable biomarkers and targeted therapies remain elusive, necessitating systematic investigation. We integrated...
The development of coronary artery disease (CAD) is the result of complex interactions between environmental and genetic factors. While the former is well known, the genetic factors that predispose individuals to the development of CAD are still under investigation. The aim of our study was to investigate whether single nucleotide polymorphisms (SNPs) in the gene encoding the...