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Elucidating the role of liver enzymes as markers and regulators in ovarian cancer: a synergistic approach using Mendelian randomization, single-cell analysis, and clinical evidence
Elucidating the role of liver enzymes as markers and regulators in ovarian cancer: a synergistic approach using Mendelian randomization, single-cell analysis, and clinical evidence
To investigate the association between liver enzymes and ovarian cancer (OC), and to validate their potential as biomarker...
Bayesian-frequentist hybrid inference framework for single cell RNA-seq analyses
Bayesian-frequentist hybrid inference framework for single cell RNA-seq analyses
Single cell RNA sequencing technology (scRNA-seq) has been proven useful in understanding cell-specific disease mechanisms...
Polygenic subtype identified in ACCORD trial displays a favorable type 2 diabetes phenotype in the UKBiobank population
Polygenic subtype identified in ACCORD trial displays a favorable type 2 diabetes phenotype in the UKBiobank population
We previously identified a genetic subtype (C4) of type 2 diabetes (T2D), benefitting from intensive glycemia treatment in...
Growth characteristics of HCT116 xenografts lacking asparagine synthetase vary according to sex
Growth characteristics of HCT116 xenografts lacking asparagine synthetase vary according to sex
Sex-related differences in colorectal (CRC) incidence and mortality are well-documented. However, the impact of sex on met...
Application of mendelian randomization in ocular diseases: a review
Application of mendelian randomization in ocular diseases: a review
Ocular disorders can significantly lower patients’ quality of life and impose an economic burden on families and soc...
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients
In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death fr...
Comprehensive bioinformatics analysis of human cytomegalovirus pathway genes in pan-cancer
Comprehensive bioinformatics analysis of human cytomegalovirus pathway genes in pan-cancer
Human cytomegalovirus (HCMV) is a herpesvirus that can infect various cell types and modulate host gene expression and imm...
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even...
Development of novel lysosome-related signatures and their potential target drugs based on bulk RNA-seq and scRNA-seq for diabetic foot ulcers
Development of novel lysosome-related signatures and their potential target drugs based on bulk RNA-seq and scRNA-seq for diabetic foot ulcers
Diabetic foot ulcers (DFU) is the most serious complication of diabetes mellitus, which has become a global health problem...
Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations
Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations
Trace Amine Associated Receptor 1 (TAAR1) is a novel pharmaceutical target under investigation for the treatment of severa...
Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis
Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis
Epidemiological studies have revealed a significant association between impaired kidney function and certain mental disord...
Systematic analysis of IGF2BP family members in non-small-cell lung cancer
Systematic analysis of IGF2BP family members in non-small-cell lung cancer
The insulin-like growth factor-2 mRNA-binding proteins 1, 2, and 3 (IGF2BP1, IGF2BP2, and IGF2BP3) are known to be involve...
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Desp...
Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation
Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation
Liver transplantation (LT) is offered as a cure for Hepatocellular carcinoma (HCC), however 15–20% develop recurrenc...
Mendelian randomization evidence based on European ancestry for the causal effects of leukocyte telomere length on prostate cancer
Mendelian randomization evidence based on European ancestry for the causal effects of leukocyte telomere length on prostate cancer
Several lines of evidence suggest that leukocyte telomere length (LTL) can affect the development of prostate cancer (PC)....
Sperm epigenetics and male infertility: unraveling the molecular puzzle
Sperm epigenetics and male infertility: unraveling the molecular puzzle
The prevalence of infertility among couples is estimated to range from 8 to 12%. A paradigm shift has occurred in understa...
Assessment of nucleic acid extraction protocols for antibiotic resistance genes (ARGs) quantification in aircraft wastewater
Assessment of nucleic acid extraction protocols for antibiotic resistance genes (ARGs) quantification in aircraft wastewater
This study evaluated ten nucleic acid extraction protocols (EP1 to EP10) for measuring five endogenous antibiotic resistan...
Pan-cancer analysis of CDKN2A alterations identifies a subset of gastric cancer with a cold tumor immune microenvironment
Pan-cancer analysis of CDKN2A alterations identifies a subset of gastric cancer with a cold tumor immune microenvironment
Although CDKN2A alteration has been explored as a favorable factor for tumorigenesis in pan-cancers, the association betwe...
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
The human lineage has undergone a postcranial skeleton gracilization (i.e. lower bone mass and strength relative to body s...
A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals
A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals
This study aimed to identify candidate loci and genes related to sleep disturbances in depressed individuals and clarify t...
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian p...
Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Given the high prevalence of BPH among elderly men, pinpointing those at elevated risk can aid in early intervention and e...
Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success
Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success
Association between genomic variants and athletic performance has seen a high degree of controversy, as there is often con...
Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay
Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay
After the occurrence of the COVID-19 pandemic, detection of other disseminated respiratory viruses using highly sensitive ...
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests ...
Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis
Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis
Myasthenia gravis (MG) is a complex autoimmune disease affecting the neuromuscular junction with limited drug options, but...
GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract
GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes ...
Prioritization of therapeutic targets for cancers using integrative multi-omics analysis
Prioritization of therapeutic targets for cancers using integrative multi-omics analysis
The integration of transcriptomic, proteomic, druggable genetic and metabolomic association studies facilitated a comprehe...
Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences
Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences
CYP2C8 is responsible for the metabolism of 5% of clinically prescribed drugs, including antimalarials, anti-cancer and an...
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scalin...
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