Now showing items 56-75 of 535

    • 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 ...
    • A catalog of genetic loci associated with kidney function from analyses of a million individuals 

      Wuttke M; Li Y; Li M; Sieber KB; Feitosa MF; Gorski M; Tin A; Wang L; Chu AY; Hoppmann A; Kirsten H; Giri A; Chai JF; Sveinbjornsson G; Tayo BO; Nutile T; Fuchsberger C; Marten J; Cocca M; Ghasemi S; Xu Y; Horn K; Noce D; van der Most PJ; Sedaghat S; Yu Z; Akiyama M; Afaq S; Ahluwalia TS; Almgren P; Amin N; Ärnlöv J; Bakker SJL; Bansal N; Baptista D; Bergmann S; Biggs ML; Biino G; Boehnke M; Boerwinkle E; Boissel M; Bottinger EP; Boutin TS; Brenner H; Brumat M; Burkhardt R; Butterworth AS; Campana E; Campbell A; Campbell H; Canouil M; Carroll RJ; Catamo E; Chambers JC; Chee ML; Chen X; Cheng CY; Cheng Y; Christensen K; Cifkova R; Ciullo M; Concas MP; Cook JP; Coresh J; Corre T; Sala CF; Cusi D; Danesh J; Daw EW; de Borst MH; De Grandi A; de Mutsert R; de Vries APJ; Degenhardt F; Delgado G; Demirkan A; Di Angelantonio E; Dittrich K; Divers J; Dorajoo R; Eckardt KU; Ehret G; Elliott P; Endlich K; Evans MK; Felix JF; Foo VHX; Franco OH; Franke A; Freedman BI; Freitag-Wolf S; Friedlander Y; Froguel P; Gansevoort RT; Gao H; Gasparini P; Gaziano JM; Giedraitis V; Gieger C; Girotto G; Giulianini F; Gögele M; Gordon SD; Gudbjartsson DF; Gudnason V; Haller T; Hamet P; Harris TB; Hartman CA; Hayward C; Hellwege JN; Heng CK; Hicks AA; Hofer E; Huang W; Hutri-Kähönen N; Hwang SJ; Ikram MA; Indridason OS; Ingelsson E; Ising M; Jaddoe VWV; Jakobsdottir J; Jonas JB; Joshi PK; Josyula NS; Jung B; Kähönen M; Kamatani Y; Kammerer CM; Kanai M; Kastarinen M; Kerr SM; Khor CC; Kiess W; Kleber ME; Koenig W; Kooner JS; Körner A; Kovacs P; Kraja AT; Krajcoviechova A; Kramer H; Krämer BK; Kronenberg F; Kubo M; Kühnel B; Kuokkanen M; Kuusisto J; La Bianca M; Laakso M; Lange LA; Langefeld CD; Lee JJ; Lehne B; Lehtimäki T; Lieb W; Lim SC; Lind L; Lindgren CM; Liu J; Loeffler M; Loos RJF; Lucae S; Lukas MA; Lyytikäinen LP; Mägi R; Magnusson PKE; Mahajan A; Martin NG; Martins J; März W; Mascalzoni D; Matsuda K; Meisinger C; Meitinger T; Melander O; Metspalu A; Mikaelsdottir EK; Milaneschi Y; Miliku K; Mishra PP; Mohlke KL; Mononen N; Montgomery GW; Mook-Kanamori DO; Mychaleckyj JC; Nadkarni GN; Nalls MA; Nauck M; Nikus K; Ning B; Nolte IM; Noordam R; O'Connell J; O'Donoghue ML; Olafsson I; Oldehinkel AJ; Orho-Melander M; Ouwehand WH; Padmanabhan S; Palmer ND; Palsson R; Penninx BWJH; Perls T; Perola M; Pirastu M; Pirastu N; Pistis G; Podgornaia AI; Polasek O; Ponte B; Porteous DJ; Poulain T; Pramstaller PP; Preuss MH; Prins BP; Province MA; Rabelink TJ; Raffield LM; Raitakari OT; Reilly DF; Rettig R; Rheinberger M; Rice KM; Ridker PM; Rivadeneira F; Rizzi F; Roberts DJ; Robino A; Rossing P; Rudan I; Rueedi R; Ruggiero D; Ryan KA; Saba Y; Sabanayagam C; Salomaa V; Salvi E; Saum KU; Schmidt H; Schmidt R; Schöttker B; Schulz CA; Schupf N; Shaffer CM; Shi Y; Smith AV; Smith BH; Soranzo N; Spracklen CN; Strauch K; Stringham HM; Stumvoll M; Svensson PO; Szymczak S; Tai ES; Tajuddin SM; Tan NYQ; Taylor KD; Teren A; Tham YC; Thiery J; Thio CHL; Thomsen H; Thorleifsson G; Toniolo D; Tönjes A; Tremblay J; Tzoulaki I; Uitterlinden AG; Vaccargiu S; van Dam RM; van der Harst P; van Duijn CM; Velez Edward DR; Verweij N; Vogelezang S; Völker U; Vollenweider P; Waeber G; Waldenberger M; Wallentin L; Wang YX; Wang C; Waterworth DM; Bin Wei W; White H; Whitfield JB; Wild SH; Wilson JF; Wojczynski MK; Wong C; Wong TY; Xu L; Yang Q; Yasuda M; Yerges-Armstrong LM; Zhang W; Zonderman AB; Rotter JI; Bochud M; Psaty BM; Vitart V; Wilson JG; Dehghan A; Parsa A; Chasman DI; Ho K; Morris AP; Devuyst O; Akilesh S; Pendergrass SA; Sim X; Böger CA; Okada Y; Edwards TL; Snieder H; Stefansson K; Hung AM; Heid IM; Scholz M; Teumer A; Köttgen A; Pattaro C (2019)
      Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate ...
    • 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 ...
    • Characterization, chemometric evaluation, and human health-related aspects of essential and toxic elements in Italian honey samples by inductively coupled plasma mass spectrometry 

      Quinto M; Miedico O; Spadaccino G; Paglia G; Mangiacotti M; Li D; Centonze D; Chiaravalle AE (2016)
      Concentration values of 24 elements (Al, As, Ba, Be, Ca, Cd, Co, Cr, Cu, Fe, Ge, Hg, Mn, Mo, Pb, Sb, Se, Sn, Sr, Ti, Tl, U, V, and Zn) were determined in 72 honey samples produced in Italy by inductively coupled plasma ...
    • The CHRIS study resource: Biobanking operations 

      De Grandi A (2019)
      At: BIDOC PhD-Programme. Graduate Course. Population-based studies in the -omics era ; Bolzano/Bozen ; 28/11/2019 - 29/11/2019
    • The chromosome 9p21 region and myocardial infarction in a European population 

      Koch W; Türk S; Erl A; Hoppmann P; Pfeufer A; King L; Schömig A; Kastrati A (2011)
      OBJECTIVE: Sequence variation at Ch9p21 is a predisposing genetic factor for a number of diseases, including myocardial infarction (MI) and diabetes. We determined the risk of MI associated with various alleles and ...
    • Circadian gene variants and susceptibility to type 2 diabetes: a pilot study 

      Kelly MA; Rees SD; Hydrie MZ; Shera AS; Bellary S; O'Hare JP; Kumar S; Taheri S; Basit A; Barnett AH; DIAGRAM Consortium; SAT2D Consortium (2012)
      BACKGROUND: Disruption of endogenous circadian rhythms has been shown to increase the risk of developing type 2 diabetes, suggesting that circadian genes might play a role in determining disease susceptibility. We present ...
    • Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals 

      Heid IM; Henneman P; Hicks A; Coassin S; Winkler T; Aulchenko YS; Fuchsberger C; Song K; Hivert MF; Waterworth DM; Timpson NJ; Richards JB; Perry JR; Tanaka T; Amin N; Kollerits B; Pichler I; Oostra BA; Thorand B; Frants RR; Illig T; Dupuis J; Glaser B; Spector T; Guralnik J; Egan JM; Florez JC; Evans DM; Soranzo N; Bandinelli S; Carlson OD; Frayling TM; Burling K; Smith GD; Mooser V; Ferrucci L; Meigs JB; Vollenweider P; Dijk KW; Pramstaller P; Kronenberg F; van Duijn CM (2010)
      OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We ...
    • Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation 

      Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C (2004)
      Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of ...
    • Clinical Decision Making: from Basic Science to Everyday Pediatric Practice 

      Vukovic V (2019)
      At: VI Congress of the Association of Preventive Pediatrics of Serbia with international participation and I regional SEE – Southeast Europe Conference of Preventive Pediatrics ; Belgrade ; 12/04/2019 - 14/04/2019
    • Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG) 

      Trenkwalder C; Kohnen R; Allen RP; Benes H; Ferini-Strambi L; Garcia-Borreguero D; Hadjigeorgiou GM; Happe S; Högl B; Hornyak M; Klein C; Nass A; Montagna P; Oertel WH; O'Keeffe S; Paulus W; Poewe W; Provini F; Pramstaller PP; Sieminski M; Sonka K; Stiasny-Kolster K; de Weerd A; Wetter TC; Winkelmann J; Zucconi M (2007)
      The European Restless Legs Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement ...
    • CLOCK gene variants associate with sleep duration in two independent populations 

      Allebrandt KV; Teder-Laving M; Akyol M; Pichler I; Müller-Myhsok B; Pramstaller P; Merrow M; Meitinger T; Metspalu A; Roenneberg T (2010)
      BACKGROUND: Sleep is an active and complex behavior, yet it has two straightforward properties-timing and duration. Clock genes are associated with dysfunctional timing of sleep, mood, and obesity disorders, which are ...