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ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis
ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis
Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease, with unclear pathogenesis. Although immune di...
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (...
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome
RUNX1 is a transcription factor and a master regulator for the specification of the hematopoietic lineage during embryogen...
Generation and characterization of a zebrafish knockout model of abcb4, a homolog of the human multidrug efflux transporter P-glycoprotein
Generation and characterization of a zebrafish knockout model of abcb4, a homolog of the human multidrug efflux transporter P-glycoprotein
The ATP-binding cassette subfamily B member 1 (ABCB1), encoding a multidrug transporter referred to as P-glycoprotein (Pgp...
Genetics in ophthalmology: molecular blueprints of retinoblastoma
Genetics in ophthalmology: molecular blueprints of retinoblastoma
This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular t...
A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between sex hormone-binding globulin and rheumatoid arthritis
A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between sex hormone-binding globulin and rheumatoid arthritis
Our study aims to investigate an intrinsic link underlying sex hormone-binding globulin (SHBG) and rheumatoid arthritis (R...
An AI-powered patient triage platform for future viral outbreaks using COVID-19 as a disease model
An AI-powered patient triage platform for future viral outbreaks using COVID-19 as a disease model
Over the last century, outbreaks and pandemics have occurred with disturbing regularity, necessitating advance preparation...
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
The RNA m6A modification might participate in microglial activation during hypoxic–ischemic brain damage in neonatal mice
The RNA m6A modification might participate in microglial activation during hypoxic–ischemic brain damage in neonatal mice
The RNA m6A modification has been implicated in multiple neurological diseases as well as macrophage activation. However, ...
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China
Thalassemia is an extremely prevalent monogenic inherited blood disorder in southern China. It is important to comprehensi...
Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for celiac disease
Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for celiac disease
As one of the most common intestinal inflammatory diseases, celiac disease (CD) is typically characterized by an autoimmun...
Determining the utility of diagnostic genomics: a conceptual framework
Determining the utility of diagnostic genomics: a conceptual framework
Diagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility ...
Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Division of Cellular and Molecular Research, National Cancer Centre Singapore, 30 Hospital Boulevard, Singapore, 168583, S...
The application of long-read sequencing in clinical settings
The application of long-read sequencing in clinical settings
Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and co...
Total RNA sequencing reveals gene expression and microbial alterations shared by oral pre-malignant lesions and cancer
Total RNA sequencing reveals gene expression and microbial alterations shared by oral pre-malignant lesions and cancer
Head and neck cancers are a complex malignancy comprising multiple anatomical sites, with cancer of the oral cavity rankin...
Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract in liver and intestinal cancer cells
Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract in liver and intestinal cancer cells
Marine seaweeds are considered as a rich source of health-promoting compounds by the food and pharmaceutical industry. Hyp...
Mitochondrial genome study in blood of maternally inherited ALS cases
Mitochondrial genome study in blood of maternally inherited ALS cases
ALS is a heterogeneous disease in which different factors such as mitochondrial phenotypes act in combination with a genet...
CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes
CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes
Cardiovascular diseases (CVDs) are the leading cause of death worldwide. Genome-wide association studies (GWAS) have ident...
COVID-19 annual update: a narrative review
COVID-19 annual update: a narrative review
Three and a half years after the pandemic outbreak, now that WHO has formally declared that the emergency is over, COVID-1...
Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Cancer predisposition is most often studied in the context of single cancers. However, inherited cancer predispositions ca...
Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitis
Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitis
A pathogenic filamentous fungus causing eyelid cellulitis was isolated from the secretion from a patient's left eyelid...
The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic markers
The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic markers
Female breast cancer remains the second leading cause of cancer-related death in the USA. The heterogeneity in the tumor m...
Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testing
Knowledge, attitudes, and perceptions of the multi-ethnic population of the United Arab Emirates on genomic medicine and genetic testing
The adoption and implementation of genomic medicine and pharmacogenomics (PGx) in healthcare systems have been very slow a...
Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics
Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics
This pilot study aims to identify and functionally assess pharmacovariants in whole exome sequencing data. While detection...
Smoking-related dysregulation of plasma circulating microRNAs: the Rotterdam study
Smoking-related dysregulation of plasma circulating microRNAs: the Rotterdam study
MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Differential miRNA expression, which is widely ...
Phenotypic variability to medication management: an update on fragile X syndrome
Phenotypic variability to medication management: an update on fragile X syndrome
This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-...
Monitoring SARS-CoV-2 variants in wastewater of Dhaka City, Bangladesh: approach to complement public health surveillance systems
Monitoring SARS-CoV-2 variants in wastewater of Dhaka City, Bangladesh: approach to complement public health surveillance systems
Wastewater-based epidemiological surveillance has been considered a powerful tool for early detection and monitoring of th...
The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in patients with non-valvular atrial fibrillation
The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in patients with non-valvular atrial fibrillation
The influence of genetic factors on the pharmacokinetics and clinical outcomes of rivaroxaban in patients with non-valvula...
Alzheimer’s disease: using gene/protein network machine learning for molecule discovery in olive oil
Alzheimer’s disease: using gene/protein network machine learning for molecule discovery in olive oil
Alzheimer’s disease (AD) poses a profound human, social, and economic burden. Previous studies suggest that extra vi...
New approach methodologies to address population variability and susceptibility
New approach methodologies to address population variability and susceptibility
Birnbaum LS, Burke TA, Jones JJ. Informing 21st-century risk assessments with 21st-century science. Environ Health Perspec...
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