Zobrazeno 1 - 10
of 215
pro vyhledávání: '"Eleonora Porcu"'
Autor:
Céline Dubath, Eleonora Porcu, Aurélie Delacrétaz, Claire Grosu, Nermine Laaboub, Marianna Piras, Armin von Gunten, Philippe Conus, Kerstin Jessica Plessen, Zoltán Kutalik, Chin Bin Eap
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Metabolic side effects of psychotropic medications are a major drawback to patients’ successful treatment. Using an epigenome-wide approach, we aimed to investigate DNA methylation changes occurring secondary to psychotropic tre
Externí odkaz:
https://doaj.org/article/01437fc7dd39429ba5781a34aad0e06b
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Turner syndrome (TS) is a genetic pathology that affects about 1/2500 newborn females. Turner’s syndrome is characterized by highly variable genetic anomalies that consist in a partial or complete deletion of the X sexual chromosome; it can be pres
Externí odkaz:
https://doaj.org/article/0cfcdb7720274cc1ae86c9d3f94e3a3c
Autor:
Mattia Tomasoni, PhD, Michael Johannes Beyeler, MSc, Sofia Ortin Vela, MSc, Ninon Mounier, PhD, Eleonora Porcu, PhD, Tanguy Corre, PhD, Daniel Krefl, PhD, Alexander Luke Button, PhD, Hana Abouzeid, MD, Konstantinidis Lazaros, MD, Murielle Bochud, MD, PhD, Reinier Schlingemann, MD, PhD, Ciara Bergin, PhD, Sven Bergmann, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 3, Pp 100288- (2023)
Purpose: To identify novel susceptibility loci for retinal vascular tortuosity, to better understand the molecular mechanisms modulating this trait, and reveal causal relationships with diseases and their risk factors. Design: Genome-wide Association
Externí odkaz:
https://doaj.org/article/eb734cab8e804abeb89a9ca8481662f3
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
The mechanism by which DNA methylation might affect complex traits is not well understood. Here, the authors use Mendelian randomization to reveal a substantial role of transcript levels in mediating DNA methylation effects on complex traits and dise
Externí odkaz:
https://doaj.org/article/c2be3825597345b584bbf11cfe5a34d5
Autor:
Eleonora Porcu, Annique Claringbould, Antoine Weihs, Kaido Lepik, BIOS Consortium, Tom G. Richardson, Uwe Völker, Federico A. Santoni, Alexander Teumer, Lude Franke, Alexandre Reymond, Zoltán Kutalik
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Nevertheless, only a few publis
Externí odkaz:
https://doaj.org/article/a3f5c3b678794a75addbb623225d2106
Autor:
Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearran
Externí odkaz:
https://doaj.org/article/46886538723645c79e39a958f7052132
Autor:
Chiara Auwerx, Marie C Sadler, Tristan Woh, Alexandre Reymond, Zoltán Kutalik, Eleonora Porcu
Publikováno v:
eLife, Vol 12 (2023)
Despite the success of genome-wide association studies (GWASs) in identifying genetic variants associated with complex traits, understanding the mechanisms behind these statistical associations remains challenging. Several methods that integrate meth
Externí odkaz:
https://doaj.org/article/e62e238f342d4c918033300bce3ce0af
Autor:
Eleonora Porcu, Marie C. Sadler, Kaido Lepik, Chiara Auwerx, Andrew R. Wood, Antoine Weihs, Maroun S. Bou Sleiman, Diogo M. Ribeiro, Stefania Bandinelli, Toshiko Tanaka, Matthias Nauck, Uwe Völker, Olivier Delaneau, Andres Metspalu, Alexander Teumer, Timothy Frayling, Federico A. Santoni, Alexandre Reymond, Zoltán Kutalik
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-9 (2021)
Identification of gene expression changes between healthy and diseased individuals can reveal mechanistic insights and biomarkers. Here, the authors propose a bi-directional transcriptome-wide Mendelian Randomization approach to assess causal effects
Externí odkaz:
https://doaj.org/article/b6ea07fec9aa4a9aa84d8abbe352d3b1
Autor:
Maarja Lepamets, Chiara Auwerx, Margit Nõukas, Annique Claringbould, Eleonora Porcu, Mart Kals, Tuuli Jürgenson, Andrew Paul Morris, Urmo Võsa, Murielle Bochud, Silvia Stringhini, Cisca Wijmenga, Lude Franke, Hedi Peterson, Jaak Vilo, Kaido Lepik, Reedik Mägi, Zoltán Kutalik
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100133- (2022)
Summary: Copy-number variations (CNV) are believed to play an important role in a wide range of complex traits, but discovering such associations remains challenging. While whole-genome sequencing (WGS) is the gold-standard approach for CNV detection
Externí odkaz:
https://doaj.org/article/5369874a0d0b42c7aab00d9892063e66
Autor:
Eleonora Porcu, Federica Gilardi, Liza Darrous, Loic Yengo, Nasim Bararpour, Marie Gasser, Pedro Marques-Vidal, Philippe Froguel, Gerard Waeber, Aurelien Thomas, Zoltán Kutalik
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract The number of people affected by Type 2 diabetes mellitus (T2DM) is close to half a billion and is on a sharp rise, representing a major and growing public health burden. Given its mild initial symptoms, T2DM is often diagnosed several years
Externí odkaz:
https://doaj.org/article/75360a3d5dfd44c5b36df0daa6ce6d32