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  1. Article

    Open Access

    Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease

    Thrombo-inflammation and neutrophil extracellular traps (NETs) are exacerbated in severe cases of COVID-19, potentially contributing to disease exacerbation. However, the mechanisms underpinning this dysregula...

    Geoffrey Garcia, Sylvie Labrouche-Colomer in Journal of Translational Medicine (2024)

  2. Article

    Open Access

    Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism

    Maria Jesus Iglesias, Laura Sanchez-Rivera, Manal Ibrahim-Kosta in Nature Communications (2023)

  3. Article

    Open Access

    uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

    Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases ...

    Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont in npj Genomic Medicine (2023)

  4. Article

    Open Access

    Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism

    Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for V...

    Maria Jesus Iglesias, Laura Sanchez-Rivera, Manal Ibrahim-Kosta in Nature Communications (2023)

  5. Article

    Open Access

    Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design

    In studies of time-to-events, it is common to collect information about events that occurred before the inclusion in a prospective cohort. When the studied risk factors are independent of time, including both ...

    Gaëlle Munsch, Louisa Goumidi in BMC Medical Research Methodology (2023)

  6. Article

    Open Access

    Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

    Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in...

    Marie-Gabrielle Duperron, Maria J. Knol, Quentin Le Grand in Nature Medicine (2023)

  7. Article

    Open Access

    Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

    Aniket Mishra, Rainer Malik, Tsuyoshi Hachiya, Tuuli Jürgenson, Shinichi Namba in Nature (2022)

  8. Article

    Open Access

    Stroke genetics informs drug discovery and risk prediction across ancestries

    Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-an...

    Aniket Mishra, Rainer Malik, Tsuyoshi Hachiya, Tuuli Jürgenson, Shinichi Namba in Nature (2022)

  9. No Access

    Article

    Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

    Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantita...

    Josine L. Min, Gibran Hemani, Eilis Hannon, Koen F. Dekkers in Nature Genetics (2021)

  10. Article

    Open Access

    An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

    Venous thromboembolism is the third common cardiovascular disease and is composed of two entities, deep vein thrombosis (DVT) and its potential fatal form, pulmonary embolism (PE). While PE is observed in ~ 40...

    Misbah Razzaq, Maria Jesus Iglesias, Manal Ibrahim-Kosta in Scientific Reports (2021)

  11. Article

    Open Access

    Cerebral small vessel disease genomics and its implications across the lifespan

    White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WM...

    Muralidharan Sargurupremraj, Hideaki Suzuki, Xueqiu Jian in Nature Communications (2020)

  12. Article

    Open Access

    Anti-integrin αv therapy improves cardiac fibrosis after myocardial infarction by blunting cardiac PW1+ stromal cells

    There is currently no therapy to limit the development of cardiac fibrosis and consequent heart failure. We have recently shown that cardiac fibrosis post-myocardial infarction (MI) can be regulated by residen...

    Marion Bouvet, Olivier Claude, Maguelonne Roux, Dan Skelly in Scientific Reports (2020)

  13. No Access

    Article

    Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease

    Venous thromboembolism is a significant cause of mortality1, yet its genetic determinants are incompletely defined. We performed a discovery genome-wide association study in the Million Veteran Program and UK Bio...

    Derek Klarin, Emma Busenkell, Renae Judy, Julie Lynch, Michael Levin in Nature Genetics (2019)

  14. Article

    Open Access

    A systems-approach reveals human nestin is an endothelial-enriched, angiogenesis-independent intermediate filament protein

    The intermediate filament protein nestin is expressed during embryonic development, but considered largely restricted to areas of regeneration in the adult. Here, we perform a body-wide transcriptome and prote...

    Philip Dusart, Linn Fagerberg, Ljubica Perisic, Mete Civelek in Scientific Reports (2018)

  15. Article

    Open Access

    Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes

    Patients with type 1 diabetes are more at risk of coronary artery disease than the general population. Although evidence points to a genetic risk there have been no study investigating genetic risk factors of ...

    Romain Charmet, Seamus Duffy, Sareh Keshavarzi, Beata Gyorgy in Cardiovascular Diabetology (2018)

  16. Article

    Open Access

    Blood triglyceride levels are associated with DNA methylation at the serine metabolism gene PHGDH

    Efficient interventions to reduce blood triglycerides are few; newer and more tolerable intervention targets are needed. Understanding the molecular mechanisms underlying blood triglyceride levels variation is...

    Vinh Truong, Siying Huang, Jessica Dennis, Mathieu Lemire in Scientific Reports (2017)

  17. Article

    Open Access

    Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci

    The interplay between genetic and epigenetic variation is only partially understood. One form of epigenetic variation is methylation at CpG sites, which can be measured as methylation quantitative trait loci (...

    Mathieu Lemire, Syed H.E. Zaidi, Maria Ban, Bing Ge, Dylan Aïssi in Nature Communications (2015)

  18. No Access

    Article

    Genetic studies of body mass index yield new insights for obesity biology

    Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), ...

    Adam E. Locke, Bratati Kahali, Sonja I. Berndt, Anne E. Justice, Tune H. Pers in Nature (2015)

  19. Article

    Open Access

    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis

    Venous Thrombosis (VT) is a common multifactorial disease with an estimated heritability between 35% and 60%. Known genetic polymorphisms identified so far only explain ~5% of the genetic variance of the disea...

    Nicolas Greliche, Marine Germain, Jean-Charles Lambert in BMC Medical Genetics (2013)

  20. No Access

    Article

    Large-scale association analysis identifies new risk loci for coronary artery disease

    Panos Deloukas, Nilesh Samani and colleagues report a large-scale association analysis using the Metabochip array in 63,746 coronary artery disease cases and 130,681 controls. They identify 15 susceptibility l...

    Panos Deloukas, Stavroula Kanoni, Christina Willenborg, Martin Farrall in Nature Genetics (2013)

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