Now showing items 215-234 of 425

    • Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels 

      Pichler I; Minelli C; Sanna S; Tanaka T; Schwienbacher C; Naitza S; Porcu E; Pattaro C; Busonero F; Zanon A; Maschio A; Melville SA; Grazia Piras M; Longo DL; Guralnik J; Hernandez D; Bandinelli S; Aigner E; Murphy AT; Wroblewski V; Marroni F; Theurl I; Gnewuch C; Schadt E; Mitterer M; Schlessinger D; Ferrucci L; Witcher DR; Hicks AA; Weiss G; Uda M; Pramstaller PP (2011)
      The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was ...
    • Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples 

      Serafin A; Foco L; Blankenburg H; Picard A; Zanigni S; Zanon A; Pramstaller PP; Hicks AA; Schwienbacher C (2014)
      BACKGROUND: Research on microRNAs (miRNAs) is becoming an increasingly attractive field, as these small RNA molecules are involved in several physiological functions and diseases. To date, only few studies have assessed ...
    • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders 

      den Hoed M; Eijgelsheim M; Esko T; Brundel BJ; Peal DS; Evans DM; Nolte IM; Segrè AV; Holm H; Handsaker RE; Westra HJ; Johnson T; Isaacs A; Yang J; Lundby A; Zhao JH; Kim YJ; Go MJ; Almgren P; Bochud M; Boucher G; Cornelis MC; Gudbjartsson D; Hadley D; van der Harst P; Hayward C; den Heijer M; Igl W; Jackson AU; Kutalik Z; Luan J; Kemp JP; Kristiansson K; Ladenvall C; Lorentzon M; Montasser ME; Njajou OT; O'Reilly PF; Padmanabhan S; St Pourcain B; Rankinen T; Salo P; Tanaka T; Timpson NJ; Vitart V; Waite L; Wheeler W; Zhang W; Draisma HH; Feitosa MF; Kerr KF; Lind PA; Mihailov E; Onland-Moret NC; Song C; Weedon MN; Xie W; Yengo L; Absher D; Albert CM; Alonso A; Arking DE; de Bakker PI; Balkau B; Barlassina C; Benaglio P; Bis JC; Bouatia-Naji N; Brage S; Chanock SJ; Chines PS; Chung M; Darbar D; Dina C; Dörr M; Elliott P; Felix SB; Fischer K; Fuchsberger C; de Geus EJ; Goyette P; Gudnason V; Harris TB; Hartikainen AL; Havulinna AS; Heckbert SR; Hicks AA; Hofman A; Holewijn S; Hoogstra-Berends F; Hottenga JJ; Jensen MK; Johansson A; Junttila J; Kääb S; Kanon B; Ketkar S; Khaw KT; Knowles JW; Kooner AS; Kors JA; Kumari M; Milani L; Laiho P; Lakatta EG; Langenberg C; Leusink M; Liu Y; Luben RN; Lunetta KL; Lynch SN; Markus MR; Marques-Vidal P; Mateo Leach I; McArdle WL; McCarroll SA; Medland SE; Miller KA; Montgomery GW; Morrison AC; Müller-Nurasyid M; Navarro P; Nelis M; O'Connell JR; O'Donnell CJ; Ong KK; Newman AB; Peters A; Polasek O; Pouta A; Pramstaller PP; Psaty BM; Rao DC; Ring SM; Rossin EJ; Rudan D; Sanna S; Scott RA; Sehmi JS; Sharp S; Shin JT; Singleton AB; Smith AV; Soranzo N; Spector TD; Stewart C; Stringham HM; Tarasov KV; Uitterlinden AG; Vandenput L; Hwang SJ; Whitfield JB; Wijmenga C; Wild SH; Willemsen G; Wilson JF; Witteman JC; Wong A; Wong Q; Jamshidi Y; Zitting P; Boer JM; Boomsma DI; Borecki IB; van Duijn CM; Ekelund U; Forouhi NG; Froguel P; Hingorani A; Ingelsson E; Kivimaki M; Kronmal RA; Kuh D; Lind L; Martin NG; Oostra BA; Pedersen NL; Quertermous T; Rotter JI; van der Schouw YT; Verschuren WM; Walker M; Albanes D; Arnar DO; Assimes TL; Bandinelli S; Boehnke M; de Boer RA; Bouchard C; Caulfield WL; Chambers JC; Curhan G; Cusi D; Eriksson J; Ferrucci L; van Gilst WH; Glorioso N; de Graaf J; Groop L; Gyllensten U; Hsueh WC; Hu FB; Huikuri HV; Hunter DJ; Iribarren C; Isomaa B; Jarvelin MR; Jula A; Kähönen M; Kiemeney LA; van der Klauw MM; Kooner JS; Kraft P; Iacoviello L; Lehtimäki T; Lokki ML; Mitchell BD; Navis G; Nieminen MS; Ohlsson C; Poulter NR; Qi L; Raitakari OT; Rimm EB; Rioux JD; Rizzi F; Rudan I; Salomaa V; Sever PS; Shields DC; Shuldiner AR; Sinisalo J; Stanton AV; Stolk RP; Strachan DP; Tardif JC; Thorsteinsdottir U; Tuomilehto J; van Veldhuisen DJ; Virtamo J; Viikari J; Vollenweider P; Waeber G; Widen E; Cho YS; Olsen JV; Visscher PM; Willer C; Franke L; Global BPgen Consortium; CARDIoGRAM Consortium; Erdmann J; Thompson JR; PR GWAS Consortium; Pfeufer A; QRS GWAS Consortium; Sotoodehnia N; QT-IGC Consortium; Newton-Cheh C; CHARGE-AF Consortium; Ellinor PT; Stricker BH; Metspalu A; Perola M; Beckmann JS; Smith GD; Stefansson K; Wareham NJ; Munroe PB; Sibon OC; Milan DJ; Snieder H; Samani NJ; Loos RJ (2013)
      Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci ...
    • Identification of HNRNPK as regulator of hepatitis C virus particle production 

      Poenisch M; Metz P; Blankenburg H; Ruggieri A; Lee JY; Rupp D; Rebhan I; Diederich K; Kaderali L; Domingues FS; Albrecht M; Lohmann V; Erfle H; Bartenschlager R (2015)
      Hepatitis C virus (HCV) is a major cause of chronic liver disease affecting around 130 million people worldwide. While great progress has been made to define the principle steps of the viral life cycle, detailed knowledge ...
    • Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease 

      van Eimeren T; Binkofski F; Buhmann C; Hagenah J; Strafella AP; Pramstaller PP; Siebner HR; Klein C (2010)
      Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with ...
    • The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches 

      Motta BM; Pramstaller PP; Hicks AA; Rossini A (2017)
      Genome-editing technology has emerged as a powerful method that enables the generation of genetically modified cells and organisms necessary to elucidate gene function and mechanisms of human diseases. The clustered regularly ...
    • Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease 

      Kertelge L; Brüggemann N; Schmidt A; Tadic V; Wisse C; Dankert S; Drude L; van der Vegt J; Siebner H; Pawlack H; Pramstaller PP; Behrens MI; Ramirez A; Reichel D; Buhmann C; Hagenah J; Klein C; Lohmann K; Kasten M (2010)
      Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but ...
    • Implications of ICU triage decisions on patient mortality: a cost-effectiveness analysis 

      Edbrooke DL; Minelli C; Mills GH; Iapichino G; Pezzi A; Corbella D; Jacobs P; Lippert A; Wiis J; Pesenti A; Patroniti N; Pirracchio R; Payen D; Gurman G; Bakker J; Kesecioglu J; Hargreaves C; Cohen SL; Baras M; Artigas A; Sprung CL (2011)
      INTRODUCTION: Intensive care is generally regarded as expensive, and as a result beds are limited. This has raised serious questions about rationing when there are insufficient beds for all those referred. However, the ...
    • Importance of different types of prior knowledge in selecting genome-wide findings for follow-up 

      Minelli C; De Grandi A; Weichenberger CX; Gögele M; Modenese M; Attia J; Barrett JH; Boehnke M; Borsani G; Casari G; Fox CS; Freina T; Hicks AA; Marroni F; Parmigiani G; Pastore A; Pattaro C; Pfeufer A; Ruggeri F; Schwienbacher C; Taliun D; Pramstaller PP; Domingues FS; Thompson JR (2013)
      Biological plausibility and other prior information could help select genome-wide association (GWA) findings for further follow-up, but there is no consensus on which types of knowledge should be considered or how to weight ...
    • Improving power for rare-variant tests by integrating external controls 

      Lee S; Kim S; Fuchsberger C (2017)
      Due to the drop in sequencing cost, the number of sequenced genomes is increasing rapidly. To improve power of rare-variant tests, these sequenced samples could be used as external control samples in addition to control ...
    • 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 ...
    • Improving the informed consent process in international collaborative rare disease research: effective consent for effective research 

      Gainotti S; Turner C; Woods S; Kole A; McCormack P; Lochmüller H; Riess O; Straub V; Posada M; Taruscio D; Mascalzoni D (2016)
      The increased international sharing of data in research consortia and the introduction of new technologies for sequencing challenge the informed consent (IC) process, adding complexities that require coordination between ...
    • 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 ...
    • Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies 

      Wojcik GL; Fuchsberger C; Taliun D; Welch R; Martin AR; Shringarpure S; Carlson CS; Abecasis G; Kang HM; Boehnke M; Bustamante CD; Gignoux CR; Kenny EE (2018)
      The emergence of very large cohorts in genomic research has facilitated a focus on genotype-imputation strategies to power rare variant association. These strategies have benefited from improvements in imputation methods ...
    • Inclusion of biological knowledge in a Bayesian shrinkage model for joint estimation of SNP effects 

      Pereira M; Thompson JR; Weichenberger CX; Thomas DC; Minelli C (2017)
      With the aim of improving detection of novel single-nucleotide polymorphisms (SNPs) in genetic association studies, we propose a method of including prior biological information in a Bayesian shrinkage model that jointly ...
    • 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 ...
    • The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study 

      Winkler TW; Justice AE; Graff M; Barata L; Feitosa MF; Chu S; Czajkowski J; Esko T; Fall T; Kilpeläinen TO; Lu Y; Mägi R; Mihailov E; Pers TH; Rüeger S; Teumer A; Ehret GB; Ferreira T; Heard-Costa NL; Karjalainen J; Lagou V; Mahajan A; Neinast MD; Prokopenko I; Simino J; Teslovich TM; Jansen R; Westra HJ; White CC; Absher D; Ahluwalia TS; Ahmad S; Albrecht E; Alves AC; Bragg-Gresham JL; de Craen AJ; Bis JC; Bonnefond A; Boucher G; Cadby G; Cheng YC; Chiang CW; Delgado G; Demirkan A; Dueker N; Eklund N; Eiriksdottir G; Eriksson J; Feenstra B; Fischer K; Frau F; Galesloot TE; Geller F; Goel A; Gorski M; Grammer TB; Gustafsson S; Haitjema S; Hottenga JJ; Huffman JE; Jackson AU; Jacobs KB; Johansson Å; Kaakinen M; Kleber ME; Lahti J; Mateo Leach I; Lehne B; Liu Y; Lo KS; Lorentzon M; Luan J; Madden PA; Mangino M; McKnight B; Medina-Gomez C; Monda KL; Montasser ME; Müller G; Müller-Nurasyid M; Nolte IM; Panoutsopoulou K; Pascoe L; Paternoster L; Rayner NW; Renström F; Rizzi F; Rose LM; Ryan KA; Salo P; Sanna S; Scharnagl H; Shi J; Smith AV; Southam L; Stančáková A; Steinthorsdottir V; Strawbridge RJ; Sung YJ; Tachmazidou I; Tanaka T; Thorleifsson G; Trompet S; Pervjakova N; Tyrer JP; Vandenput L; van der Laan SW; van der Velde N; van Setten J; van Vliet-Ostaptchouk JV; Verweij N; Vlachopoulou E; Waite LL; Wang SR; Wang Z; Wild SH; Willenborg C; Wilson JF; Wong A; Yang J; Yengo L; Yerges-Armstrong LM; Yu L; Zhang W; Zhao JH; Andersson EA; Bakker SJ; Baldassarre D; Banasik K; Barcella M; Barlassina C; Bellis C; Benaglio P; Blangero J; Blüher M; Bonnet F; Bonnycastle LL; Boyd HA; Bruinenberg M; Buchman AS; Campbell H; Chen YD; Chines PS; Claudi-Boehm S; Cole J; Collins FS; de Geus EJ; de Groot LC; Dimitriou M; Duan J; Enroth S; Eury E; Farmaki AE; Forouhi NG; Friedrich N; Gejman PV; Gigante B; Glorioso N; Go AS; Gottesman O; Gräßler J; Grallert H; Grarup N; Gu YM; Broer L; Ham AC; Hansen T; Harris TB; Hartman CA; Hassinen M; Hastie N; Hattersley AT; Heath AC; Henders AK; Hernandez D; Hillege H; Holmen O; Hovingh KG; Hui J; Husemoen LL; Hutri-Kähönen N; Hysi PG; Illig T; De Jager PL; Jalilzadeh S; Jørgensen T; Jukema JW; Juonala M; Kanoni S; Karaleftheri M; Khaw KT; Kinnunen L; Kittner SJ; Koenig W; Kolcic I; Kovacs P; Krarup NT; Kratzer W; Krüger J; Kuh D; Kumari M; Kyriakou T; Langenberg C; Lannfelt L; Lanzani C; Lotay V; Launer LJ; Leander K; Lindström J; Linneberg A; Liu YP; Lobbens S; Luben R; Lyssenko V; Männistö S; Magnusson PK; McArdle WL; Menni C; Merger S; Milani L; Montgomery GW; Morris AP; Narisu N; Nelis M; Ong KK; Palotie A; Pérusse L; Pichler I; Pilia MG; Pouta A; Rheinberger M; Ribel-Madsen R; Richards M; Rice KM; Rice TK; Rivolta C; Salomaa V; Sanders AR; Sarzynski MA; Scholtens S; Scott RA; Scott WR; Sebert S; Sengupta S; Sennblad B; Seufferlein T; Silveira A; Slagboom PE; Smit JH; Sparsø TH; Stirrups K; Stolk RP; Stringham HM; Swertz MA; Swift AJ; Syvänen AC; Tan ST; Thorand B; Tönjes A; Tremblay A; Tsafantakis E; van der Most PJ; Völker U; Vohl MC; Vonk JM; Waldenberger M; Walker RW; Wennauer R; Widén E; Willemsen G; Wilsgaard T; Wright AF; Zillikens MC; van Dijk SC; van Schoor NM; Asselbergs FW; de Bakker PI; Beckmann JS; Beilby J; Bennett DA; Bergman RN; Bergmann S; Böger CA; Boehm BO; Boerwinkle E; Boomsma DI; Bornstein SR; Bottinger EP; Bouchard C; Chambers JC; Chanock SJ; Chasman DI; Cucca F; Cusi D; Dedoussis G; Erdmann J; Eriksson JG; Evans DA; de Faire U; Farrall M; Ferrucci L; Ford I; Franke L; Franks PW; Froguel P; Gansevoort RT; Gieger C; Grönberg H; Gudnason V; Gyllensten U; Hall P; Hamsten A; van der Harst P; Hayward C; Heliövaara M; Hengstenberg C; Hicks AA; Hingorani A; Hofman A; Hu F; Huikuri HV; Hveem K; James AL; Jordan JM; Jula A; Kähönen M; Kajantie E; Kathiresan S; Kiemeney LA; Kivimaki M; Knekt PB; Koistinen HA; Kooner JS; Koskinen S; Kuusisto J; Maerz W; Martin NG; Laakso M; Lakka TA; Lehtimäki T; Lettre G; Levinson DF; Lind L; Lokki ML; Mäntyselkä P; Melbye M; Metspalu A; Mitchell BD; Moll FL; Murray JC; Musk AW; Nieminen MS; Njølstad I; Ohlsson C; Oldehinkel AJ; Oostra BA; Palmer LJ; Pankow JS; Pasterkamp G; Pedersen NL; Pedersen O; Penninx BW; Perola M; Peters A; Polašek O; Pramstaller PP; Psaty BM; Qi L; Quertermous T; Raitakari OT; Rankinen T; Rauramaa R; Ridker PM; Rioux JD; Rivadeneira F; Rotter JI; Rudan I; den Ruijter HM; Saltevo J; Sattar N; Schunkert H; Schwarz PE; Shuldiner AR; Sinisalo J; Snieder H; Sørensen TI; Spector TD; Staessen JA; Stefania B; Thorsteinsdottir U; Stumvoll M; Tardif JC; Tremoli E; Tuomilehto J; Uitterlinden AG; Uusitupa M; Verbeek AL; Vermeulen SH; Viikari JS; Vitart V; Völzke H; Vollenweider P; Waeber G; Walker M; Wallaschofski H; Wareham NJ; Watkins H; Zeggini E; CHARGE Consortium; DIAGRAM Consortium; GLGC Consortium; Global-BPGen Consortium; ICBP Consortium; MAGIC Consortium; Chakravarti A; Clegg DJ; Cupples LA; Gordon-Larsen P; Jaquish CE; Rao DC; Abecasis GR; Assimes TL; Barroso I; Berndt SI; Boehnke M; Deloukas P; Fox CS; Groop LC; Hunter DJ; Ingelsson E; Kaplan RC; McCarthy MI; Mohlke KL; O'Connell JR; Schlessinger D; Strachan DP; Stefansson K; van Duijn CM; Hirschhorn JN; Lindgren CM; Heid IM; North KE; Borecki IB; Kutalik Z; Loos RJ (2015)
      Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and ...
    • Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological 

      Biino G; Gasparini P; D'Adamo P; Ciullo M; Nutile T; Toniolo D; Sala C; Minelli C; Gögele M; Balduini CL (2012)
    • 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 ...
    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study 

      Sun M; Latourelle JC; Wooten GF; Lew MF; Klein C; Shill HA; Golbe LI; Mark MH; Racette BA; Perlmutter JS; Parsian A; Guttman M; Nicholson G; Xu G; Wilk JB; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Suchowersky O; Labelle N; Growdon JH; Singer C; Watts RL; Goldwurm S; Pezzoli G; Baker KB; Pramstaller PP; Burn DJ; Chinnery PF; Sherman S; Vieregge P; Litvan I; Gillis T; MacDonald ME; Myers RH; Gusella JF (2006)
      BACKGROUND: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD). OBJECTIVE: To evaluate the influence of heterozygosity for parkin ...