Now showing items 32-51 of 425

    • Bayesian analysis of censored response data in family-based genetic association studies 

      Del Greco M F; Pattaro C; Minelli C; Thompson JR (2016)
      Biomarkers are subject to censoring whenever some measurements are not quantifiable given a laboratory detection limit. Methods for handling censoring have received less attention in genetic epidemiology, and censored data ...
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 

      Stahl EA; Wegmann D; Trynka G; Gutierrez-Achury J; Do R; Voight BF; Kraft P; Chen R; Kallberg HJ; Kurreeman FA; DIAGRAM Consortium; Myocardial Infarction Genetics Consortium; Kathiresan S; Wijmenga C; Gregersen PK; Alfredsson L; Siminovitch KA; Worthington J; de Bakker PI; Raychaudhuri S; Plenge RM (2012)
      The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method ...
    • BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study 

      Karamohamed S; Latourelle JC; Racette BA; Perlmutter JS; Wooten GF; Lew M; Klein C; Shill H; Golbe LI; Mark MH; Guttman M; Nicholson G; Wilk JB; Saint-Hilaire M; DeStefano AL; Prakash R; Tobin S; Williamson J; Suchowersky O; Labell N; Growdon BN; Singer C; Watts R; Goldwurm S; Pezzoli G; Baker KB; Giroux ML; Pramstaller PP; Burn DJ; Chinnery P; Sherman S; Vieregge P; Litvan I; Gusella JF; Myers RH; Parsian A (2005)
      Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore, BDNF is a candidate gene for PD. The authors investigated five ...
    • Beiträge zur historischen Demographie: im rätoromanischen Kulturraum Südtirols und Graubündens 

      Gustin C; Pinggera GK; Riegler A; Dal Cero U (Eurac Research [u.a.], 2007)
    • 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 ...
    • Biological interpretation of genome-wide association studies using predicted gene functions 

      Pers TH; Karjalainen JM; Chan Y; Westra HJ; Wood AR; Yang J; Lui JC; Vedantam S; Gustafsson S; Esko T; Frayling T; Speliotes EK; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Boehnke M; Raychaudhuri S; Fehrmann RS; Hirschhorn JN; Franke L (2015)
      The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions ...
    • Biological, clinical and population relevance of 95 loci for blood lipids 

      Teslovich TM; Musunuru K; Smith AV; Edmondson AC; Stylianou IM; Koseki M; Pirruccello JP; Ripatti S; Chasman DI; Willer CJ; Johansen CT; Fouchier SW; Isaacs A; Peloso GM; Barbalic M; Ricketts SL; Bis JC; Aulchenko YS; Thorleifsson G; Feitosa MF; Chambers J; Orho-Melander M; Melander O; Johnson T; Li X; Guo X; Li M; Shin Cho Y; Jin Go M; Jin Kim Y; Lee JY; Park T; Kim K; Sim X; Twee-Hee Ong R; Croteau-Chonka DC; Lange LA; Smith JD; Song K; Hua Zhao J; Yuan X; Luan J; Lamina C; Ziegler A; Zhang W; Zee RY; Wright AF; Witteman JC; Wilson JF; Willemsen G; Wichmann HE; Whitfield JB; Waterworth DM; Wareham NJ; Waeber G; Vollenweider P; Voight BF; Vitart V; Uitterlinden AG; Uda M; Tuomilehto J; Thompson JR; Tanaka T; Surakka I; Stringham HM; Spector TD; Soranzo N; Smit JH; Sinisalo J; Silander K; Sijbrands EJ; Scuteri A; Scott J; Schlessinger D; Sanna S; Salomaa V; Saharinen J; Sabatti C; Ruokonen A; Rudan I; Rose LM; Roberts R; Rieder M; Psaty BM; Pramstaller PP; Pichler I; Perola M; Penninx BW; Pedersen NL; Pattaro C; Parker AN; Pare G; Oostra BA; O'Donnell CJ; Nieminen MS; Nickerson DA; Montgomery GW; Meitinger T; McPherson R; McCarthy MI; McArdle W; Masson D; Martin NG; Marroni F; Mangino M; Magnusson PK; Lucas G; Luben R; Loos RJ; Lokki ML; Lettre G; Langenberg C; Launer LJ; Lakatta EG; Laaksonen R; Kyvik KO; Kronenberg F; König IR; Khaw KT; Kaprio J; Kaplan LM; Johansson A; Jarvelin MR; Janssens AC; Ingelsson E; Igl W; Kees Hovingh G; Hottenga JJ; Hofman A; Hicks AA; Hengstenberg C; Heid IM; Hayward C; Havulinna AS; Hastie ND; Harris TB; Haritunians T; Hall AS; Gyllensten U; Guiducci C; Groop LC; Gonzalez E; Gieger C; Freimer NB; Ferrucci L; Erdmann J; Elliott P; Ejebe KG; Döring A; Dominiczak AF; Demissie S; Deloukas P; de Geus EJ; de Faire U; Crawford G; Collins FS; Chen YD; Caulfield MJ; Campbell H; Burtt NP; Bonnycastle LL; Boomsma DI; Boekholdt SM; Bergman RN; Barroso I; Bandinelli S; Ballantyne CM; Assimes TL; Quertermous T; Altshuler D; Seielstad M; Wong TY; Tai ES; Feranil AB; Kuzawa CW; Adair LS; Taylor HA; Borecki IB; Gabriel SB; Wilson JG; Holm H; Thorsteinsdottir U; Gudnason V; Krauss RM; Mohlke KL; Ordovas JM; Munroe PB; Kooner JS; Tall AR; Hegele RA; Kastelein JJ; Schadt EE; Rotter JI; Boerwinkle E; Strachan DP; Mooser V; Stefansson K; Reilly MP; Samani NJ; Schunkert H; Cupples LA; Sandhu MS; Ridker PM; Rader DJ; van Duijn CM; Peltonen L; Abecasis GR; Boehnke M; Kathiresan S (2010)
      Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are ...
    • Biomarkers defining the metabolic age of red blood cells during cold storage 

      Paglia G; D'Alessandro A; Rolfsson Ó; Sigurjónsson ÓE; Bordbar A; Palsson S; Nemkov T; Hansen KC; Gudmundsson S; Palsson BO (2016)
      Metabolomic investigations of packed red blood cells (RBCs) stored under refrigerated conditions in saline adenine glucose mannitol (SAGM) additives have revealed the presence of 3 distinct metabolic phases, occurring on ...
    • Biomedical Research in South Tyrol 

      Farbridge PD; Hicks AA; Pramstaller PP; Baumgartner B; Defranceschi L; Munari E; Hechensteiner S (Eurac Research, 2016)
    • Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations 

      Helmchen C; Schwekendiek A; Pramstaller PP; Hedrich K; Klein C; Rambold H (2006)
      We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical ...
    • Brain parenchyma sonography detects preclinical parkinsonism 

      Walter U; Klein C; Hilker R; Benecke R; Pramstaller PP; Dressler D (2004)
      Substantia nigra (SN) hyperechogenicity on brain parenchyma sonography (BPS) is highly characteristic for idiopathic PD. We studied 7 symptomatic and 7 asymptomatic parkin mutation carriers (PMC) from a large kindred with ...
    • Buprenorphine in maintenance treatment: experience among Italian physicians in drug addiction centers 

      Quaglio G; Pattaro C; Gerra G; Mezzelani P; Montanari L; Jarlais DC; Lugoboni F (2010)
      The aim of this study was to assess the attitudes of Italian physicians regarding buprenorphine and its clinical use approximately 6 years after the medication was introduced into clinical practice. The sample consisted ...
    • CADPS2 gene expression is oppositely regulated by LRRK2 and alpha-synuclein 

      Obergasteiger J; Überbacher C; Pramstaller PP; Hicks AA; Corti C; Volta M (2017)
      The Ca2+-dependent activator protein for secretion 2 (CADPS2) is a member of the CAPS/CADPS protein family that plays crucial roles in synaptic vesicle dynamics. Genomic variability in the CADPS2 gene has been associated ...
    • CARD8 and NLRP1 undergo autoproteolytic processing through a ZU5-like domain 

      D'Osualdo A; Weichenberger CX; Wagner RN; Godzik A; Wooley J; Reed JC (2011)
      The "Function to Find Domain" (FIIND)-containing proteins CARD8 (Cardinal; Tucan) and NLRP1 (NALP1; NAC) are well known components of inflammasomes, multiprotein complexes responsible for activation of caspase-1, a regulator ...
    • Cardiac index and oxygen delivery during low and high tidal volume ventilation strategies in patients with acute respiratory distress syndrome: a crossover randomized clinical trial 

      Natalini G; Minelli C; Rosano A; Ferretti P; Militano CR; De Feo C; Bernardini A (2013)
      INTRODUCTION: The beneficial effect of low tidal volume (TV) ventilation strategy on mortality in patients with acute respiratory distress syndrome (ARDS) has been attributed to the protective effect on ventilator-induced ...
    • Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy 

      Sommariva E; Brambilla S; Carbucicchio C; Gambini E; Meraviglia V; Dello Russo A; Farina FM; Casella M; Catto V; Pontone G; Chiesa M; Stadiotti I; Cogliati E; Paolin A; Ouali Alami N; Preziuso C; d'Amati G; Colombo GI; Rossini A; Capogrossi MC; Tondo C; Pompilio G (2015)
      AIM: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder mainly due to mutations in desmosomal genes, characterized by progressive fibro-adipose replacement of the myocardium, arrhythmias, and sudden death. It is ...
    • Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts 

      Vimaleswaran KS; Berry DJ; Lu C; Tikkanen E; Pilz S; Hiraki LT; Cooper JD; Dastani Z; Li R; Houston DK; Wood AR; Michaëlsson K; Vandenput L; Zgaga L; Yerges-Armstrong LM; McCarthy MI; Dupuis J; Kaakinen M; Kleber ME; Jameson K; Arden N; Raitakari O; Viikari J; Lohman KK; Ferrucci L; Melhus H; Ingelsson E; Byberg L; Lind L; Lorentzon M; Salomaa V; Campbell H; Dunlop M; Mitchell BD; Herzig KH; Pouta A; Hartikainen AL; Genetic Investigation of Anthropometric Traits-GIANT Consortium; Streeten EA; Theodoratou E; Jula A; Wareham NJ; Ohlsson C; Frayling TM; Kritchevsky SB; Spector TD; Richards JB; Lehtimäki T; Ouwehand WH; Kraft P; Cooper C; März W; Power C; Loos RJ; Wang TJ; Järvelin MR; Whittaker JC; Hingorani AD; Hyppönen E (2013)
      BACKGROUND: Obesity is associated with vitamin D deficiency, and both are areas of active public health concern. We explored the causality and direction of the relationship between body mass index (BMI) and 25-hydroxyvitamin ...
    • Cephalalgiaphobia as a feature of high-frequency migraine: a pilot study 

      Giannini G; Zanigni S; Grimaldi D; Melotti R; Pierangeli G; Cortelli P; Cevoli S (2013)
      BACKGROUND: Cephalalgiaphobia is the fear of having a headache attack during a pain-free period that may induce patients to use analgesic in the absence of pain to prevent headache and to improve their performances. This ...
    • The challenges of the expanded availability of genomic information: an agenda-setting paper 

      Borry P; Bentzen HB; Budin-Ljøsne I; Cornel MC; Howard HC; Feeney O; Jackson L; Mascalzoni D; Mendes Á; Peterlin B; Riso B; Shabani M; Skirton H; Sterckx S; Vears D; Wjst M; Felzmann H (2017)
      Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized ...
    • Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates 

      Wei W; Hemani G; Hicks AA; Vitart V; Cabrera-Cardenas C; Navarro P; Huffman J; Hayward C; Knott SA; Rudan I; Pramstaller PP; Wild SH; Wilson JF; Campbell H; Dunlop MG; Hastie N; Wright AF; Haley CS (2011)
      Genome-wide association (GWA) studies have identified a number of loci underlying variation in human serum uric acid (SUA) levels with the SLC2A9 gene having the largest effect identified so far. Gene-gene interactions ...