Now showing items 217-236 of 424

    • 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 ...
    • Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers 

      Weissbach A; König IR; Hückelheim K; Pramstaller PP; Werner E; Brüggemann N; Tadic V; Lohmann K; Bäumer T; Münchau A; Kasten M; Klein C (2017)
      INTRODUCTION: A latent nigrostriatal deficit and its possible clinical consequences in asymptomatic heterozygous Parkin and PINK1 mutation carriers (AMC) have been a matter of investigation in recent years. Notably, mild ...
    • Informed consent in the genomics era 

      Mascalzoni D; Hicks A; Pramstaller P; Wjst M (2008)
    • Inherited cardiac arrhythmias: diagnosis, treatment, and prevention 

      Beckmann BM; Pfeufer A; Kääb S (2011)
      BACKGROUND: The incidence of sudden cardiac death in persons under age 40 is roughly 3 per 100 000 persons per year in Germany and North America. Many of these deaths are found to be due to hereditary heart diseases, often ...
    • Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior in LRRK2 G20195 knock-in mice 

      Volta M; Beccano-Kelly DA; Paschall SA; Cataldi S; MacIsaac SE; Kuhlmann N; Kadgien CA; Tatarnikov I; Fox J; Khinda J; Mitchell E; Bergeron S; Melrose H; Farrer MJ; Milnerwood AJ (2017)
      LRRK2 mutations produce end-stage Parkinson's disease (PD) with reduced nigrostriatal dopamine, whereas, asymptomatic carriers have increased dopamine turnover and altered brain connectivity. LRRK2 pathophysiology remains ...
    • Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function 

      Chasman DI; Fuchsberger C; Pattaro C; Teumer A; Böger CA; Endlich K; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa MF; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Lambert JC; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Coassin S; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu F; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Meisinger C; Gieger C; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki IB; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Parsa A; Bochud M; Heid IM; Kao WH; Fox CS; Köttgen A (2012)
      In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated ...