Search Results - "Gorski, Mathias"
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Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
Published in Nature communications (16-07-2021)“…Genes underneath signals from genome-wide association studies (GWAS) for kidney function are promising targets for functional studies, but prioritizing…”
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Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program
Published in Nature communications (26-08-2019)“…Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a…”
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EasyStrata: evaluation and visualization of stratified genome-wide association meta-analysis data
Published in Bioinformatics (Oxford, England) (15-01-2015)“…The R package EasyStrata facilitates the evaluation and visualization of stratified genome-wide association meta-analyses (GWAMAs) results. It provides (i)…”
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KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies
Published in BMC bioinformatics (21-09-2023)“…Abstract Background Genome-wide association studies (GWAS) have identified hundreds of genetic loci associated with kidney function. By combining these…”
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Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
Published in Scientific reports (24-01-2024)“…Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association…”
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Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci
Published in PloS one (12-03-2018)“…Late-stage age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly with a complex etiology. The most important…”
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LMX1B is Essential for the Maintenance of Differentiated Podocytes in Adult Kidneys
Published in Journal of the American Society of Nephrology (01-11-2013)“…Mutations of the LMX1B gene cause nail-patella syndrome, a rare autosomal-dominant disorder affecting the development of the limbs, eyes, brain, and kidneys…”
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Poor risk factor control in outpatients with diabetes mellitus type 2 in Germany: The DIAbetes COhoRtE (DIACORE) study
Published in PloS one (21-03-2019)“…Patients with diabetes mellitus type 2 (DM2) are at high risk for micro- and macrovascular disease. Here, we explore the degree of traditional risk factor…”
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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population
Published in PloS one (23-03-2017)“…Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure…”
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HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization
Published in International journal of epidemiology (01-12-2017)Get full text
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Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study
Published in BMC genetics (25-05-2023)“…Polygenic scores (PGSs) combining genetic variants found to be associated with creatinine-based estimated glomerular filtration rate (eGFR ) have been applied…”
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Study design of DIACORE (DIAbetes COhoRtE) - a cohort study of patients with diabetes mellitus type 2
Published in BMC genetics (14-02-2013)“…Diabetes mellitus type 2 (DM2) is highly associated with increased risk for chronic kidney disease (CKD), end stage renal disease (ESRD) and cardiovascular…”
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metaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia
Published in Bioinformatics (Oxford, England) (02-05-2024)“…Abstract Summary This article introduces the metaGWASmanager, which streamlines genome-wide association studies within large-scale meta-analysis consortia. It…”
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
Published in Nature genetics (01-06-2019)“…Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide…”
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
Published in Nature genetics (01-10-2019)“…Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide…”
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Child maltreatment as a transdiagnostic risk factor for the externalizing dimension: a Mendelian randomization study
Published in Molecular psychiatry (22-08-2024)“…Observational studies suggest that child maltreatment increases the risk of externalizing spectrum disorders such as attention deficit hyperactivity disorder…”
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T14. CHILD MALTREATMENT AS TRANSDIAGNOSTIC RISK FACTOR FOR THE EXTERNALIZING DIMENSION: A MENDELIAN RANDOMIZATION STUDY
Published in European neuropsychopharmacology (01-10-2023)“…Observational studies indicate that child maltreatment raises the risk of externalizing spectrum disorders, such as attention deficit hyperactivity disorder…”
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HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization
Published in International journal of epidemiology (01-12-2017)“…Dyslipidemia, particularly high-density lipoprotein cholesterol (HDL-C), has recently been implicated in the pathogenesis of age-related macular degeneration…”
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Population-based reference values for kidney function and kidney function decline in 25- to 95-year-old Germans without and with diabetes
Published in Kidney international (01-10-2024)“…Understanding normal aging of kidney function is pivotal to help distinguish individuals at particular risk for chronic kidney disease. Glomerular filtration…”
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Genetic Risk Score Analysis Supports a Joint View of Two Classification Systems for Age-Related Macular Degeneration
Published in Investigative ophthalmology & visual science (01-09-2023)“…PurposeThe purpose of this study was to evaluate the utility of combining the Clinical Classification (CC) and the Three Continent age-related macular…”
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