Recent Submissions

  • 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 ...
  • Biomedical Research in South Tyrol 

    Farbridge PD; Hicks AA; Pramstaller PP; Baumgartner B; Defranceschi L; Munari E; Hechensteiner S (Eurac Research, 2016)
  • Association of common variants in arrhythmogenic cardiomyopathy desmosomal genes with ECG traits in the general population 

    Foco L; Fuchsberger C; Gögele M; Murgia F; Schmidt G; Rossini A; Pramstaller P; Pattaro P (2017)
    Purpose Arrhythmogenic cardiomyopathy (AC) is a rare condition, with familial inheritance, featuring life-threatening arrhythmias and cardiomyocite replacement with fibro-fatty cells. Such alterations are reflected in ...
  • NOS1AP Variant rs7539120 is Associated with Appropriate Implantable Cardioverter Defibrillators (ICD) Shock 

    Foco L; Volpato CB; Manfrin M; Cima A; Bozzolan I; De Grandi A; Pramstaller P; Minelli C; Marini M; Cemin R (2016)
    Implantable cardioverter defibrillators (ICD) are used to prevent Sudden Cardiac Death (SCD) in patients with heart failure, but currently only 30% of them experience an appropriate ICD activation during their life. ...
  • Bioinformatic and mendelian randomization analyses characterize variants in desmosomal genes associated with ECG traits in the general population 

    Foco L; Del Greco M F; Fuchsberger C; Gögele M; Murgia F; Huan T; Levy DB; Teumer A; Dörr M; Schmidt G; Rossini A; Pramstaller PP; Pattaro C (2018)
    Introduction: Arrhythmogenic cardiomyopathy is caused by mutations in desmosomal genes. We previously tested association of common variants in such genes with physiological cardiac conduction traits. From an analysis of ...
  • 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 ...
  • Age at menarche and adult body mass index: a Mendelian randomization study 

    Gill D; Brewer CF; Del Greco M F; Sivakumaran P; Bowden J; Sheehan NA; Minelli C (2018)
    BACKGROUND: Pubertal timing has psychological and physical sequelae. While observational studies have demonstrated an association between age at menarche and adult body mass index (BMI), confounding makes it difficult to ...
  • Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees 

    Jun G; Manning A; Almeida M; Zawistowski M; Wood AR; Teslovich TM; Fuchsberger C; Feng S; Cingolani P; Gaulton KJ; Dyer T; Blackwell TW; Chen H; Chines PS; Choi S; Churchhouse C; Fontanillas P; King R; Lee S; Lincoln SE; Trubetskoy V; DePristo M; Fingerlin T; Grossman R; Grundstad J; Heath A; Kim J; Kim YJ; Laramie J; Lee J; Li H; Liu X; Livne O; Locke AE; Maller J; Mazur A; Morris AP; Pollin TI; Ragona D; Reich D; Rivas MA; Scott LJ; Sim X; Tearle RG; Teo YY; Williams AL; Zöllner S; Curran JE; Peralta J; Akolkar B; Bell GI; Burtt NP; Cox NJ; Florez JC; Hanis CL; McKeon C; Mohlke KL; Seielstad M; Wilson JG; Atzmon G; Below JE; Dupuis J; Nicolae DL; Lehman D; Park T; Won S; Sladek R; Altshuler D; McCarthy MI; Duggirala R; Boehnke M; Frayling TM; Abecasis GR; Blangero J (2018)
    A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare ...
  • PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity 

    vvan 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 J; 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; Ilaria G; Iorio A; Kähönen M; Kolcic I; Kors JA; Lakatta EG; Launer LJ; Lin H; Lin HJ; Loos RJF; Lubitz SA; Macfarlane PW; Magnani JW; Leach IM; 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; Jukema JW; 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 ...
  • The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP plus Treatment by Altering LRRK2 Binding to DRP1 

    Carrion MP; Pischedda F; Biosa A; Russo I; Straniero L; CivieroL; Guida M; Gloeckner CJ; Ticozzi N; Tiloca C; Mariani C; Pezzoli G; Duga S; Pichler I; Pan L; Landers JE; Greggio E; Hess MW; Goldwurm S; Piccoli G (2018)
    Mutations in leucine-rich repeat kinase 2 gene (LRRK2) are associated with familial and sporadic Parkinson's disease (PD). LRRK2 is a complex protein that consists of multiple domains, including 13 putative armadillo-type ...
  • Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy 

    Monzio Compagnoni G; Kleiner G; Bordoni A; Fortunato F; Ronchi D; Salani S; Guida M; Corti C; Pichler I; Bergamini C; Fato R; Pellecchia MT; Vallelunga A; Del Sorbo F; Elia A; Reale C; Garavaglia B; Mora G; Albanese A; Cogiamanian F; Ardolino G; Bresolin N; Corti S; Comi GP; Quinzii CM; Di Fonzo A (2018)
    Multiple System Atrophy is a severe neurodegenerative disorder which is characterized by a variable clinical presentation and a broad neuropathological spectrum. The pathogenic mechanisms are almost completely unknown. In ...
  • Improving the visualisation, interpretation and analysis of two-sample summary data Mendelian randomization via the radial plot and radial regression 

    Bowden J; Spiller W; Del Greco M F; Sheehan N; Thompson J; Minelli C; Davey Smith G (2018)
    Background: data furnishing a two-sample Mendelian randomization (MR) study are often visualized with the aid of a scatter plot, in which single-nucleotide polymorphism (SNP)-outcome associations are plotted against the ...
  • Validity and reliability of serological immunophenotyping of multiple blood group systems by ORTHO™ Sera with fully automated procedure 

    Salvadori U; Melotti R; L'Altrella D; Daves M; Al-Khaffaf A; Milizia L; Putzulu R; Filippi R; Carolo A; Lippi G; Gentilini I (2018)
    The increase of immunization against blood group antigens has reinforced the need for automated extensive blood typing. The aim of this study was to assess both the validity and reliability of red blood cell (RBC) automated ...
  • Influence of collection tubes during quantitative targeted metabolomics studies in human blood samples 

    Paglia G; Del Greco M F; Sigurdsson BB; Rainer J; Volani C; Hicks AA; Pramstaller PP; Smarason SV (2018)
    BACKGROUND: Plasma and serum are the most widely used matrices in clinical studies. However, some variability in absolute concentrations of metabolites are likely to be observed in these collection tubes matrices. METHODS: We ...
  • Structural Consistency of the Pain Sensitivity Questionnaire in the Cooperative Health Research In South Tyrol (CHRIS) Population-Based Study 

    Melotti R; Ruscheweyh R; Pramstaller PP; Hicks AA; Pattaro C (2018)
    The self-reported Pain Sensitivity Questionnaire (PSQ) is a valid supplement to experimental pain testing. However, the latent constructs determining the originally proposed 1 general score (PSQ-total) and 2 subscores ...
  • Comparative assessment of different familial aggregation methods in the context of large and unstructured pedigrees 

    Weichenberger CX; Rainer J; Pattaro C; Pramstaller PP; Domingues FS (2019)
    Familial aggregation analysis is an important early step for characterizing the genetic determinants of phenotypes in epidemiological studies. To facilitate this analysis, a collection of methods to detect familial aggregation ...

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