Molecular Mechanisms Underlying Vascular Liver Diseases: Focus on Thrombosis

Autor: Lucia Giuli, Maria Pallozzi, Giulia Venturini, Antonio Gasbarrini, Francesca Romana Ponziani, Francesco Santopaolo

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 16, p 12754 (2023)

Vascular liver disorders (VLDs) comprise a wide spectrum of clinical-pathological entities that primarily affect the hepatic vascular system of both cirrhotic and non-cirrhotic patients. VLDs more frequently involve the portal and the hepatic veins,

Externí odkaz: https://doaj.org/article/78c38ab0549349efa8cc6ea732da8307

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

Autor: Clive J Hoggart, Giulia Venturini, Massimo Mangino, Felicia Gomez, Giulia Ascari, Jing Hua Zhao, Alexander Teumer, Thomas W Winkler, Natalia Tšernikova, Jian'an Luan, Evelin Mihailov, Georg B Ehret, Weihua Zhang, David Lamparter, Tõnu Esko, Aurelien Macé, Sina Rüeger, Pierre-Yves Bochud, Matteo Barcella, Yves Dauvilliers, Beben Benyamin, David M Evans, Caroline Hayward, Mary F Lopez, Lude Franke, Alessia Russo, Iris M Heid, Erika Salvi, Sailaja Vendantam, Dan E Arking, Eric Boerwinkle, John C Chambers, Giovanni Fiorito, Harald Grallert, Simonetta Guarrera, Georg Homuth, Jennifer E Huffman, David Porteous, Generation Scotland Consortium, LifeLines Cohort study, GIANT Consortium, Darius Moradpour, Alex Iranzo, Johannes Hebebrand, John P Kemp, Gert J Lammers, Vincent Aubert, Markus H Heim, Nicholas G Martin, Grant W Montgomery, Rosa Peraita-Adrados, Joan Santamaria, Francesco Negro, Carsten O Schmidt, Robert A Scott, Tim D Spector, Konstantin Strauch, Henry Völzke, Nicholas J Wareham, Wei Yuan, Jordana T Bell, Aravinda Chakravarti, Jaspal S Kooner, Annette Peters, Giuseppe Matullo, Henri Wallaschofski, John B Whitfield, Fred Paccaud, Peter Vollenweider, Sven Bergmann, Jacques S Beckmann, Mehdi Tafti, Nicholas D Hastie, Daniele Cusi, Murielle Bochud, Timothy M Frayling, Andres Metspalu, Marjo-Riitta Jarvelin, André Scherag, George Davey Smith, Ingrid B Borecki, Valentin Rousson, Joel N Hirschhorn, Carlo Rivolta, Ruth J F Loos, Zoltán Kutalik

Publikováno v: PLoS Genetics, Vol 10, Iss 7, p e1004508 (2014)

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits in

Externí odkaz: https://doaj.org/article/6b5ebe329cc640c482a2dc731b70d7f4

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Autor: Giulia Venturini, Anna M Rose, Amna Z Shah, Shomi S Bhattacharya, Carlo Rivolta

Publikováno v: PLoS Genetics, Vol 8, Iss 11, p e1003040 (2012)

Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develo

Externí odkaz: https://doaj.org/article/ece489e471ec47c1b82d7ba45952ea6d

Effect of a wound healing protocol on patients with stage III and IV pressure ulcers: a preliminary observational study

Autor: Dario Monaco, Francesco Zaghini, Jacopo Fiorini, Giulia Venturini, Paolo Iovino, Ercole Vellone, Rosaria Alvaro, Alessandro Sili

Publikováno v: Journal of Wound Care. 31:322-328

Objective: To evaluate the influence of a wound healing protocol for stage III and IV pressure ulcers (PUs), and to determine the predictive power of specific sociodemographic and clinical characteristics on wound healing and infection. Method: This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b650b0f57112ac9d5e330acfc9e9203f
https://doi.org/10.12968/jowc.2022.31.4.322

Emulating clinical pressure waveforms in cell culture using an Arduino-controlled 3D-printed platform for 96-well plates

Autor: Adam H. Szmelter, Giulia Venturini, Rana J. Abbed, Manny O. Acheampong, David T. Eddington

High blood pressure is the primary risk factor for heart disease, the leading cause of death globally. Despite this, current methods to replicate physiological pressures in-vitro remain limited in sophistication and throughput. Single-chamber exposur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf8cc933b4efffbee186f1eb7d99ffed
https://doi.org/10.1101/2022.09.30.510223