Recent Submissions

  • Metabolic Signature of Dietary Iron Overload in a Mouse Model 

    Volani C; Paglia G; Smarason S; Pramstaller PP; Demetz E; Pfeifhofer-Obermair C; Weiss G (2018)
    Iron is an essential co-factor for several metabolic processes, including the Krebs cycle and mitochondrial oxidative phosphorylation. Therefore, maintaining an appropriate iron balance is essential to ensure sufficient ...
  • Lipidomics, Atrial Conduction, and Body Mass Index 

    Del Greco M F; Foco L; Teumer A; Verweij N; Paglia G; Meraviglia V; Melotti R; Vukovic V; Rauhe W; Joshi PK; Demirkan A; Felix SB; Pietzner M; Said MA; van de Vegte YJ; van der Harst P; Wright AF; Hicks AA; Campbell H; Dörr M; Snieder H; Wilson JF; Pramstaller PP; Rossini A; Pattaro C. (2019)
    BACKGROUND: Lipids are increasingly involved in cardiovascular risk prediction as potential proarrhythmic influencers. However, knowledge is limited about the specific mechanisms connecting lipid alterations with atrial ...
  • ensembldb: an R package to create and use Ensembl-based annotation resources. 

    Rainer J; Gatto L; Weichenberger CX (2019)
    Bioinformatics research frequently involves handling gene-centric data such as exons, transcripts, proteins, and their positions relative to a reference coordinate system. The ensembldb Bioconductor package retrieves and ...
  • Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research 

    Goisauf M; Gillian M; Bentzen H B; Budin-Ljøsne I; Ursin L; Durnová A; Leitsalu L; Smith K; Casati S; Lavitrano M; Mascalzoni D; Boeckhout M; Mayrhofer MT (2019)
    Biobanks have evolved, and their governance procedures have undergone important transformations. Our paper examines this issue by focusing on the perspective of the professionals working in management or scientific roles ...
  • Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly 

    Domingues FS; König E; Schwienbacher C; Volpato CB; Picard A; Cantaloni C; Mascalzoni D; Lackner P; Heimbach A; Hoffmann P; Stanzial F; Hicks AA; Parmeggiani L; Benedicenti F; Pellegrin S; Casara G; Pramstaller PP (2019)
    PURPOSE: Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early ...
  • Subchronic Exposure to Titanium Dioxide Nanoparticles Modifies Cardiac Structure and Performance in Spontaneously Hypertensive Rats 

    Rossi S; Savi M; Mazzola M; Pinelli S; Alinovi R; Gennaccaro L; Pagliaro A; Meraviglia V; Galetti M; Lozano-Garcia O; Rossini A; Frati C; Falco A; Quaini F; Bocchi L; Stilli D; Lucas S; Goldoni M; Macchi E; Mutti A; Miragoli M (2019)
    BACKGROUND: Non-communicable diseases, intended as the results of a combination of inherited, environmental and biological factors, kill 40 million people each year, equivalent to roughly 70% of all premature deaths ...
  • A Negative Association Between Lithium in Drinking Water and the Incidences of Homicides, in Greece 

    Giotakos O; Tsouvelas G; Nisianakis P; Giakalou V; Lavdas AΑ; Tsiamitas C; Panagiotis K; Kontaxakis V (2015)
  • Modeling Parkinson's disease in midbrain-like organoids 

    Smits LM; Reinhardt L; Reinhardt P; Glatza M; Monzel AS; Stanslowsky N; Rosato-Siri MD; Zanon A; Antony PM; Bellmann J; Nicklas SM; Hemmer K; Qing X; Berger E; Kalmbach N; Ehrlich M; Bolognin S; Hicks AA; Wegner F; Sterneckert JL; Schwamborn JC (2019)
    Modeling Parkinson's disease (PD) using advanced experimental in vitro models is a powerful tool to study disease mechanisms and to elucidate unexplored aspects of this neurodegenerative disorder. Here, we demonstrate that ...
  • Plasmid-normalized quantification of relative mitochondrial DNA copy number 

    Fazzini F; Schoepf B; Blatzer M; Coassin S; Hicks AA; Kronenberg F; Fendt L (2018)
  • Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation? 

    Mascalzoni D; Bentzen HB; Budin-Ljosne I; Bygrave LA; Bell J; Dove ES; Fuchsberger C; Hveem K; Mayrhofer MT; Meraviglia V; O'Brien DR; Pattaro C; Pramstaller PP; Rakic V; Rossini A; Shabani M; Svantesson DJB; Tomasi M; Ursin L; Wjst M; Kaye J (2019)
  • Protection of Personal Information Act No. 4 of 2013: Implications for biobanks 

    Staunton C; de Stadler E (2019)
    The Protection of Personal Information Act (POPIA) No. 4 of 2013 is the first comprehensive data-protection regulation to be passed in South Africa (SA). Its objectives include giving effect to the constitutional right to ...
  • The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks. 

    Staunton C; Slokenberga S; Mascalzoni D (2019)
    The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ...
  • Improving the accuracy of two-sample summary-data Mendelian randomization: moving beyond the NOME assumption 

    Bowden J; Del Greco M F; Minelli C; Zhao Q; Lawlor DA; Sheehan NA; Thompson J; Smith GD (2018)
    Background Two-sample summary-data Mendelian randomization (MR) incorporating multiple genetic variants within a meta-analysis framework is a popular technique for assessing causality in epidemiology. If all genetic ...
  • The Histone Deacetylase Inhibitor Suberoylanilide Hydroxamic Acid (SAHA) Restores Cardiomyocyte Contractility in a Rat Model of Early Diabetes 

    Bocchi L; Motta BM; Savi M; Vilella R; Meraviglia V; Rizzi F; Galati S; Buschini A; Lazzaretti M; Pramstaller PP; Rossini A; Stilli D (2019)
    In early diabetes, hyperglycemia and the associated metabolic dysregulation promote early changes in the functional properties of cardiomyocytes, progressively leading to the appearance of the diabetic cardiomyopathy ...
  • emeraLD: rapid linkage disequilibrium estimation with massive datasets 

    Quick C; Fuchsberger C; Taliun D; Abecasis G; Boehnke M; Kang HM (2018)
    Estimating linkage disequilibrium (LD) is essential for a wide range of summary statistics-based association methods for genome-wide association studies. Large genetic datasets, e.g. the TOPMed WGS project and UK Biobank, ...
  • Genome-wide association meta-analysis of PR interval identifies 50 novel loci associated with atrial and atrioventricular electrical activity 

    van Setten J; Brody JA; Jamshidi Y; Swenson BR; Butler AM; Campbell H; Del Greco M F; Evans DS; Gibson Q; Gudbjartsson DF; Kerr KF; Krijthe BP; Lyytikäinen LP; Müller C; Müller-Nurasyid M; Nolte IM; Padmanabhan S; Ritchie MD; Robino A; Smith AV; Steri M; Tanaka T; Teumer A; Trompet S; Ulivi S; Verweij N; Yin X; Arnar DO; Asselbergs FW; Bader JS; Barnard J; Bis S; Blankenberg S; Boerwinkle E; Bradford Y; Buckley BM; Chung MK; Crawford D; den Hoed M; Denny JC; Dominiczak AF; Ehret GB; Eijgelsheim M; Ellinor PT; Felix SB; Franco OH; Franke L; Harris TB; Holm H; Gandin I; Iorio A; Kähönen M; Kolcic I; Kors JA; Lakatta EG; Launer LJ; Lin H; Lin HJ; Loos RJF; Lubitz SA; Macfarlane PW; Magnani JW; Mateo Leach I; Meitinger T; Mitchell BD; Munzel T; Papanicolaou GJ; Peters A; Pfeufer A; Pramstaller PP; Raitakari OT; Rotter JI; Rudan I; Samani NJ; Schlessinger D; Silva Aldana CT; Sinner MF; Smith JD; Snieder H; Soliman EZ; Spector TD; Stott DJ; Strauch K; Tarasov KV; Thorsteinsdottir U; Uitterlinden AG; Van Wagoner DR; Völker U; Völzke H; Waldenberger M; Jan Westra H; Wild PS; Zeller T; Alonso A; Avery CL; Bandinelli S; Benjamin EJ; Cucca F; Dörr M; Ferrucci L; Gasparini P; Gudnason V; Hayward C; Heckbert SR; Hicks AA; Wouter Jukema J; Kääb S; Lehtimäki T; Liu Y; Munroe PB; Parsa A; Polasek O; Psaty BM; Roden DM; Schnabel RB; Sinagra G; Stefansson K; Stricker BH; van der Harst P; van Duijn CM; Wilson JF; Gharib SA; de Bakker PIW; Isaacs A; Arking DE; Sotoodehnia N (2018)
    Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 ...
  • Increased Anxiety-Related Behavior, Impaired Cognitive Function and Cellular Alterations in the Brain of Cend1-deficient Mice 

    Segklia K; Stamatakis A; Stylianopoulou F; Lavdas AA; Matsas R (2019)
    Cend1 is a neuronal-lineage specific modulator involved in coordination of cell cycle exit and differentiation of neuronal precursors. We have previously shown that Cend1−/− mice show altered cerebellar layering caused by ...
  • Analysis of influenza vaccination coverage among the elderly living in Rome, based on a deprivation index, 2009-13 

    Vukovic V; Lillini R; Asta F; Chini F; De Waure C (2018)
    Introduction: Elderly people are more likely to develop influenza-related complications, but despite the recommendations, the optimal vaccination coverage is not reached. The use of deprivation indices can help identifying ...
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits 

    Evangelou E; Warren HR; Mosen-Ansorena D; Mifsud B; Pazoki R; Gao H; Ntritsos G; Dimou N; Cabrera CP; Karaman I; Ng FL; Evangelou M; Witkowska K; Tzanis E; Hellwege JN; Giri A; Velez Edwards DR; Sun YV; Cho K; Gaziano JM; Wilson PWF; Tsao PS; Kovesdy CP; Esko T; Mägi R; Milani L; Almgren P; Boutin T; Debette S; Ding J; Giulianini F; Holliday EG; Jackson AU; Li-Gao R; Lin WY; Luan J; Mangino M; Oldmeadow C; Prins BP; Qian Y; Sargurupremraj M; Shah N; Surendran P; Thériault S; Verweij N; Willems SM; Zhao JH; Amouyel P; Connell J; de Mutsert R; Doney ASF; Farrall M; Menni C; Morris AD; Noordam R; Paré G; Poulter NR; Shields DC; Stanton A; Thom S; Abecasis G; Amin N; Arking DE; Ayers KL; Barbieri CM; Batini C; Bis JC; Blake T; Bochud M; Boehnke M; Boerwinkle E; Boomsma DI; Bottinger EP; Braund PS; Brumat M; Campbell A; Campbell H; Chakravarti A; Chambers JC; Chauhan G; Ciullo M; Cocca M; Collins F; Cordell HJ; Davies G; Borst MH; Geus EJ; Deary IJ; Deelen J; Del Greco M F; Demirkale CY; Dörr M; Ehret GB; Elosua R; Enroth S; Erzurumluoglu AM; Ferreira T; Frånberg M; Franco OH; Gandin I; Gasparini P; Giedraitis V; Gieger C; Girotto G; Goel A; Gow AJ; Gudnason V; Guo X; Gyllensten U; Hamsten A; Harris TB; Harris SE; Hartman CA; Havulinna AS; Hicks AA; Hofer E; Hofman A; Hottenga JJ; Huffman JE; Hwang SJ; Ingelsson E; James A; Jansen R; Jarvelin MR; Joehanes R; Johansson Å; Johnson AD; Joshi PK; Jousilahti P; Jukema JW; Jula A; Kähönen M; Kathiresan S; Keavney BD; Khaw KT; Knekt P; Knight J; Kolcic I; Kooner JS; Koskinen S; Kristiansson K; Kutalik Z; Laan M; Larson M; Launer LJ; Lehne B; Lehtimäki T; Liewald DCM; Lin L; Lind L; Lindgren CM; Liu Y; Loos RJF; Lopez LM; Lu Y; Lyytikäinen LP; Mahajan A; Mamasoula C; Marrugat J; Marten J; Milaneschi Y; Morgan A; Morris AP; Morrison AC; Munson PJ; Nalls MA; Nandakumar P; Nelson CP; Niiranen T; Nolte IM; Nutile T; Oldehinkel AJ; Oostra BA; O'Reilly PF; Org E; Padmanabhan S; Palmas W; Palotie A; Pattie A; Penninx BWJH; Perola M; Peters A; Polasek O; Pramstaller PP; Nguyen QT; Raitakari OT; Ren M; Rettig R; Rice K; Ridker PM; Ried JS; Riese H; Ripatti S; Robino A; Rose LM; Rotter JI; Rudan I; Ruggiero D; Saba Y; Sala CF; Salomaa V; Samani NJ; Sarin AP; Schmidt R; Schmidt H; Shrine N; Siscovick D; Smith AV; Snieder H; Sõber S; Sorice R; Starr JM; Stott DJ; Strachan DP; Strawbridge RJ; Sundström J; Swertz MA; Taylor KD; Teumer A; Tobin MD; Tomaszewski M; Toniolo D; Traglia M; Trompet S; Tuomilehto J; Tzourio C; Uitterlinden AG; Vaez A; van der Most PJ; van Duijn CM; Vergnaud AC; Verwoert GC; Vitart V; Völker U; Vollenweider P; Vuckovic D; Watkins H; Wild SH; Willemsen G; Wilson JF; Wright AF; Yao J; Zemunik T; Zhang W; Attia JR; Butterworth AS; Chasman DI; Conen D; Cucca F; Danesh J; Hayward C; Howson JMM; Laakso M; Lakatta EG; Langenberg C; Melander O; Mook-Kanamori DO; Palmer CNA; Risch L; Scott RA; Scott RJ; Sever P; Spector TD; van der Harst P; Wareham NJ; Zeggini E; Levy D; Munroe PB; Newton-Cheh C; Brown MJ; Metspalu A; Hung AM; O'Donnell CJ; Edwards TL; Million Veteran Program; Psaty BM; Tzoulaki I; Barnes MR; Wain LV; Elliott P; Caulfield MJ (2018)
    High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in ...
  • Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells 

    Guida M; Zanon A; Montibeller L; Lavdas AA; Ladurner J; Pischedda F; Rakovic A; Domingues FS; Piccoli G; Klein C; Pramstaller PP; Hicks AA; Pichler I (2019)
    Mutations in the PRKN gene (encoding parkin) have been linked to the most frequent known cause of recessive Parkinson's disease (PD), and parkin dysfunction represents a risk factor for sporadic PD. Parkin is widely ...

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