Anna Reznichenko
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View article: PET imaging of mitochondrial complex-I in the adenine-induced tubulointerstitial nephropathy mouse model using [18F]BCPP-BF
PET imaging of mitochondrial complex-I in the adenine-induced tubulointerstitial nephropathy mouse model using [18F]BCPP-BF Open
Background Chronic kidney disease (CKD) poses a significant global health burden with limited effective treatments for its prevention, progression, and associated complications. Mitochondrial dysfunction is recognized as a pivotal factor i…
View article: Kidney transcriptomics signature of prospective rapid diabetic kidney disease progression
Kidney transcriptomics signature of prospective rapid diabetic kidney disease progression Open
Background Previous cross-sectional transcriptomics studies on diabetic kidney disease (DKD) kidney tissue have shown correlations between gene expression and both disease status and kidney function at the time of biopsy; however, longitud…
View article: Kidney mRNA-protein expression correlation: what can we learn from the Human Protein Atlas?
Kidney mRNA-protein expression correlation: what can we learn from the Human Protein Atlas? Open
Background The Human Protein Atlas, with more than 10 million immunohistochemical images showing tissue- and cell-specific protein expression levels and subcellular localization information, is widely used in kidney research. The Human Pro…
View article: Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences Open
Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank…
View article: Kidney mRNA-protein expression correlation: What can we learn from the Human Protein Atlas?
Kidney mRNA-protein expression correlation: What can we learn from the Human Protein Atlas? Open
The Human Protein Atlas (HPA), with more than 10 million immunohistochemical images showing tissue- and cell-specific protein expression levels and subcellular localization information, is widely used in kidney research. The HPA contains c…
View article: Kidney ‘pathway-orphan’ genes as a potential overlooked source of novel insights into kidney health and disease
Kidney ‘pathway-orphan’ genes as a potential overlooked source of novel insights into kidney health and disease Open
Hundreds of protein-coding genes still have unknown functions and no biological pathway annotations. Mechanistic studies typically investigate well-known genes, despite growing evidence of associations between disease and some understudied…
View article: Kidney transcriptomics signature of prospective rapid diabetic kidney disease progression
Kidney transcriptomics signature of prospective rapid diabetic kidney disease progression Open
Previous cross-sectional transcriptomic studies on diabetic kidney disease (DKD) kidney tissue have shown correlations between gene expression and both disease status and kidney function at time of biopsy, but longitudinal data is scarce. …
View article: Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank Open
Genome-wide association studies (GWASs) have established the contribution of common and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To complement existing GWAS findings, we assessed the contribution of r…
View article: Selecting the right therapeutic target for kidney disease
Selecting the right therapeutic target for kidney disease Open
Kidney disease is a complex disease with several different etiologies and underlying associated pathophysiology. This is reflected by the lack of effective treatment therapies in chronic kidney disease (CKD) that stop disease progression. …
View article: Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses
Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses Open
Large-scale phenome-wide association studies performed using densely-phenotyped cohorts such as the UK Biobank (UKB), reveal many statistically robust gene-phenotype relationships for both clinical and continuous traits. Here, we present G…
View article: Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequences
Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequences Open
Genome-wide association studies have established the contribution of common and low frequency variants to metabolic biomarkers in the UK Biobank (UKB); however, the role of rare variants remains to be assessed systematically. We evaluated …
View article: Molecular Stratification of Chronic Kidney Disease
Molecular Stratification of Chronic Kidney Disease Open
Current classification of chronic kidney disease (CKD) into stages based on the indirect measures of kidney functional state, estimated glomerular filtration rate and albuminuria, is agnostic to the heterogeneity of underlying etiologies, …
View article: Novel insights into the disease transcriptome of human diabetic glomeruli and tubulointerstitium
Novel insights into the disease transcriptome of human diabetic glomeruli and tubulointerstitium Open
Background Diabetic nephropathy (DN) is the most common cause of end-stage renal disease, affecting ∼30% of the rapidly growing diabetic population, and strongly associated with cardiovascular risk. Despite this, the molecular mechanisms o…
View article: Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci
Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci Open
Background: Serum urea level is a heritable trait, commonly used as a diagnostic marker for kidney function. Genome-wide association studies (GWAS) in East-Asian populations identified a number of genetic loci related to serum urea, howeve…
View article: Supplementary Material for: Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci
Supplementary Material for: Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci Open
Background: Serum urea level is a heritable trait, commonly used as a diagnostic marker for kidney function. Genome-wide association studies (GWAS) in East-Asian populations identified a number of genetic loci related to serum urea, howeve…
View article: Targeted Analysis of Serum Proteins Encoded at Known Inflammatory Bowel Disease Risk Loci
Targeted Analysis of Serum Proteins Encoded at Known Inflammatory Bowel Disease Risk Loci Open
Using affinity proteomics, we identified a set of IBD-associated serum proteins encoded at IBD risk loci. These candidate proteins hold the potential to be exploited as diagnostic biomarkers of IBD.
View article: A CRISP(e)R view on kidney organoids allows generation of an induced pluripotent stem cell–derived kidney model for drug discovery
A CRISP(e)R view on kidney organoids allows generation of an induced pluripotent stem cell–derived kidney model for drug discovery Open
Development of physiologically relevant cellular models with strong translatability to human pathophysiology is critical for identification and validation of novel therapeutic targets. Herein we describe a detailed protocol for generation …
View article: A <scp>GWAS</scp> meta‐analysis from 5 population‐based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome
A <span>GWAS</span> meta‐analysis from 5 population‐based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome Open
Background Irritable bowel syndrome ( IBS ) shows genetic predisposition, however, large‐scale, powered gene mapping studies are lacking. We sought to exploit existing genetic (genotype) and epidemiological (questionnaire) data from a seri…
View article: <i>FAR2</i> is associated with kidney disease in mice and humans
<i>FAR2</i> is associated with kidney disease in mice and humans Open
Mesangial matrix expansion is an important process in the initiation of chronic kidney disease, yet the genetic factors driving its development are unknown. Our previous studies have implicated Far2 as a candidate gene associated with diff…