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Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

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  1. Article

    Open Access

    Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report

    Homozygous mutations in the APOA5 gene constitute a rare cause of monogenic hypertriglyceridemia, or familial chylomicronemia syndrome (FCS). We searched PubMed and identified 16 cases of homozygous mutations in ...

    Umidakhon Makhmudova, P. Christian Schulze in Journal of Medical Case Reports (2024)

  2. Article

    Open Access

    Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis

    Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key player of lipid metabolism with higher plasma levels in women throughout their life. Statin treatment affects PCSK9 levels also showing evidence o...

    Janne Pott, Azin Kheirkhah, Jesper R. Gadin, Marcus E. Kleber in Biology of Sex Differences (2024)

  3. Article

    Open Access

    X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

    X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association met...

    Markus Scholz, Katrin Horn, Janne Pott, Matthias Wuttke in Nature Communications (2024)

  4. Article

    Open Access

    Clusters of prediabetes and type 2 diabetes stratify all-cause mortality in a cohort of participants undergoing invasive coronary diagnostics

    Heterogeneous metabolic clusters have been identified in diabetic and prediabetic states. It is not known whether such pathophysiologic clusters impact survival in at-risk persons being evaluated for coronary ...

    Katsiaryna Prystupa, Graciela E. Delgado, Angela P. Moissl in Cardiovascular Diabetology (2023)

  5. Article

    Open Access

    Genetic insights into resting heart rate and its role in cardiovascular disease

    Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associate...

    Yordi J. van de Vegte, Ruben N. Ep**a, M. Yldau van der Ende in Nature Communications (2023)

  6. Article

    Author Correction: The power of genetic diversity in genome-wide association studies of lipids

    Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni in Nature (2023)

  7. Article

    Open Access

    Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

    Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...

    Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka in Genome Biology (2022)

  8. Article

    Open Access

    A saturated map of common genetic variants associated with human height

    Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...

    Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell in Nature (2022)

  9. Article

    Open Access

    Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

    Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide associat...

    Thomas W. Winkler, Humaira Rasheed, Alexander Teumer in Communications Biology (2022)

  10. Article

    Open Access

    Serum markers of fibrosis, cardiovascular and all-cause mortality in hemodialysis patients: the AURORA trial

    Biomarkers of fibrosis are associated with outcome in several cardiovascular diseases. However, their relevance to chronic kidney disease and dialysis is uncertain, as it remains unclear how the kidneys and th...

    Madonna Salib, Sophie Girerd, Nicolas Girerd in Clinical Research in Cardiology (2022)

  11. Article

    Open Access

    Author Correction: Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis

    Markus Scholz, Katrin Horn, Janne Pott, Arnd Gross in Nature Communications (2022)

  12. Article

    Open Access

    Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis

    Phytosterol serum concentrations are under tight genetic control. The relationship between phytosterols and coronary artery disease (CAD) is controversially discussed. We perform a genome-wide meta-analysis of...

    Markus Scholz, Katrin Horn, Janne Pott, Arnd Gross in Nature Communications (2022)

  13. Article

    Open Access

    Meta-analyses identify DNA methylation associated with kidney function and damage

    Chronic kidney disease is a major public health burden. Elevated urinary albumin-to-creatinine ratio is a measure of kidney damage, and used to diagnose and stage chronic kidney disease. To extend the knowledg...

    Pascal Schlosser, Adrienne Tin, Pamela R. Matias-Garcia in Nature Communications (2021)

  14. Article

    Open Access

    Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus

    Elevated serum urate levels, a complex trait and major risk factor for incident gout, are correlated with cardiometabolic traits via incompletely understood mechanisms. DNA methylation in whole blood captures ...

    Adrienne Tin, Pascal Schlosser, Pamela R. Matias-Garcia in Nature Communications (2021)

  15. Article

    Open Access

    FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia

    Diagnosis rates of familial hypercholesterolemia (FH) remain low. We implemented FH ALERT to assess whether alerting physicians for the possibility of FH impacted additional diagnostic activity. The study was ...

    Felix Fath, Andreas Bengeser, Mathias Barresi, Priska Binner in Scientific Reports (2021)

  16. Article

    Open Access

    Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

    A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21276-3

    Vasiliki Lagou, Reedik Mägi, Jouke- Jan Hottenga, Harald Grallert in Nature Communications (2021)

  17. Article

    Open Access

    Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

    Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose t...

    Vasiliki Lagou, Reedik Mägi, Jouke- Jan Hottenga, Harald Grallert in Nature Communications (2021)

  18. Article

    Open Access

    Risk factors for retinopathy in hemodialysis patients with type 2 diabetes mellitus

    There is limited knowledge on the prevalence and risk factors of diabetic retinopathy (DR) in dialysis patients. We have investigated the association between diabetes mellitus and lipid-related biomarkers and ...

    Michael Müller, Carl-Ludwig Schönfeld, Tanja Grammer, Vera Krane in Scientific Reports (2020)

  19. Article

    Open Access

    Subclinical inflammation, telomere shortening, homocysteine, vitamin B6, and mortality: the Ludwigshafen Risk and Cardiovascular Health Study

    Short telomeres and B vitamin deficiencies have been proposed as risk factors for age-related diseases and mortality that interact through oxidative stress and inflammation. However, available data to support ...

    Irene Pusceddu, Wolfgang Herrmann, Marcus E. Kleber in European Journal of Nutrition (2020)

  20. Article

    Open Access

    Apolipoprotein CIII predicts cardiovascular events in patients with coronary artery disease: a prospective observational study

    Apolipoprotein CIII (apoCIII) is associated with triglyceride-rich lipoprotein metabolism and has emerged as independent marker for risk of cardiovascular disease. The objective was to test whether apoCIII is ...

    Julius L. Katzmann, Christian M. Werner, Tatjana Stojakovic in Lipids in Health and Disease (2020)

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