Now showing items 381-400 of 423

  • Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers: a TMS study 

    Bäumer T; Pramstaller PP; Siebner HR; Schippling S; Hagenah J; Peller M; Gerloff C; Klein C; Münchau A (2007)
    BACKGROUND: In patients with Parkinson disease (PD), transcranial magnetic stimulation (TMS) studies have consistently demonstrated a reduced inhibitory tone in the sensorimotor cortex. It remains unclear whether this is ...
  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction 

    Gudbjartsson DF; Bjornsdottir US; Halapi E; Helgadottir A; Sulem P; Jonsdottir GM; Thorleifsson G; Helgadottir H; Steinthorsdottir V; Stefansson H; Williams C; Hui J; Beilby J; Warrington NM; James A; Palmer LJ; Koppelman GH; Heinzmann A; Krueger M; Boezen HM; Wheatley A; Altmuller J; Shin HD; Uh ST; Cheong HS; Jonsdottir B; Gislason D; Park CS; Rasmussen LM; Porsbjerg C; Hansen JW; Backer V; Werge T; Janson C; Jönsson UB; Ng MC; Chan J; So WY; Ma R; Shah SH; Granger CB; Quyyumi AA; Levey AI; Vaccarino V; Reilly MP; Rader DJ; Williams MJ; van Rij AM; Jones GT; Trabetti E; Malerba G; Pignatti PF; Boner A; Pescollderungg L; Girelli D; Olivieri O; Martinelli N; Ludviksson BR; Ludviksdottir D; Eyjolfsson GI; Arnar D; Thorgeirsson G; Deichmann K; Thompson PJ; Wjst M; Hall IP; Postma DS; Gislason T; Gulcher J; Kong A; Jonsdottir I; Thorsteinsdottir U; Stefansson K (2009)
    Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide ...
  • Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits 

    Zaboli G; Ameur A; Igl W; Johansson Å; Hayward C; Vitart V; Campbell S; Zgaga L; Polasek O; Schmitz G; van Duijn C; Oostra B; Pramstaller P; Hicks A; Meitinger T; Rudan I; Wright A; Wilson JF; Campbell H; Gyllensten U; EUROSPAN Consortium (2012)
    We have used targeted genomic sequencing of high-complexity DNA pools based on long-range PCR and deep DNA sequencing by the SOLiD technology. The method was used for sequencing of 286 kb from four chromosomal regions with ...
  • Sequential recruitment of study participants may inflate genetic heritability estimates 

    Noce D; Gögele M; Schwienbacher C; Caprioli G; De Grandi A; Foco L; Platzgummer S; Pramstaller PP; Pattaro C (2017)
    After the success of genome-wide association studies to uncover complex trait loci, attempts to explain the remaining genetic heritability (h 2) are mainly focused on unraveling rare variant associations and gene-gene or ...
  • Serum iron level and kidney function: a Mendelian randomization study 

    Del Greco M F; Foco L; Pichler I; Eller P; Eller K; Benyamin B; Whitfield JB; Genetics of Iron Status Consortium; CKDGen Consortium; Pramstaller PP; Thompson JR; Pattaro C; Minelli C (2017)
    Background: Iron depletion is a known consequence of chronic kidney disease (CKD), but there is contradicting epidemiological evidence on whether iron itself affects kidney function and whether its effect is protective or ...
  • Serum iron levels and the risk of Parkinson disease: a mendelian randomization study 

    Pichler I; Del Greco M F; Gögele M; Lill CM; Bertram L; Do CB; Eriksson N; Foroud T; Myers RH; PD GWAS Consortium; Nalls M; Keller MF; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium 2; Benyamin B; Whitfield JB; Genetics of Iron Status Consortium; Pramstaller PP; Hicks AA; Thompson JR; Minelli C (2013)
    BACKGROUND: Although levels of iron are known to be increased in the brains of patients with Parkinson disease (PD), epidemiological evidence on a possible effect of iron blood levels on PD risk is inconclusive, with ...
  • Seventy-five genetic loci influencing the human red blood cell 

    van der Harst P; Zhang W; Mateo Leach I; Rendon A; Verweij N; Sehmi J; Paul DS; Elling U; Allayee H; Li X; Radhakrishnan A; Tan ST; Voss K; Weichenberger CX; Albers CA; Al-Hussani A; Asselbergs FW; Ciullo M; Danjou F; Dina C; Esko T; Evans DM; Franke L; Gögele M; Hartiala J; Hersch M; Holm H; Hottenga JJ; Kanoni S; Kleber ME; Lagou V; Langenberg C; Lopez LM; Lyytikäinen LP; Melander O; Murgia F; Nolte IM; O'Reilly PF; Padmanabhan S; Parsa A; Pirastu N; Porcu E; Portas L; Prokopenko I; Ried JS; Shin SY; Tang CS; Teumer A; Traglia M; Ulivi S; Westra HJ; Yang J; Zhao JH; Anni F; Abdellaoui A; Attwood A; Balkau B; Bandinelli S; Bastardot F; Benyamin B; Boehm BO; Cookson WO; Das D; de Bakker PI; de Boer RA; de Geus EJ; de Moor MH; Dimitriou M; Domingues FS; Döring A; Engström G; Eyjolfsson GI; Ferrucci L; Fischer K; Galanello R; Garner SF; Genser B; Gibson QD; Girotto G; Gudbjartsson DF; Harris SE; Hartikainen AL; Hastie CE; Hedblad B; Illig T; Jolley J; Kähönen M; Kema IP; Kemp JP; Liang L; Lloyd-Jones H; Loos RJ; Meacham S; Medland SE; Meisinger C; Memari Y; Mihailov E; Miller K; Moffatt MF; Nauck M; Novatchkova M; Nutile T; Olafsson I; Onundarson PT; Parracciani D; Penninx BW; Perseu L; Piga A; Pistis G; Pouta A; Puc U; Raitakari O; Ring SM; Robino A; Ruggiero D; Ruokonen A; Saint-Pierre A; Sala C; Salumets A; Sambrook J; Schepers H; Schmidt CO; Silljé HH; Sladek R; Smit JH; Starr JM; Stephens J; Sulem P; Tanaka T; Thorsteinsdottir U; Tragante V; van Gilst WH; van Pelt LJ; van Veldhuisen DJ; Völker U; Whitfield JB; Willemsen G; Winkelmann BR; Wirnsberger G; Algra A; Cucca F; D'Adamo AP; Danesh J; Deary IJ; Dominiczak AF; Elliott P; Fortina P; Froguel P; Gasparini P; Greinacher A; Hazen SL; Jarvelin MR; Khaw KT; Lehtimäki T; Maerz W; Martin NG; Metspalu A; Mitchell BD; Montgomery GW; Moore C; Navis G; Pirastu M; Pramstaller PP; Ramirez-Solis R; Schadt E; Scott J; Shuldiner AR; Smith GD; Smith JG; Snieder H; Sorice R; Spector TD; Stefansson K; Stumvoll M; Tang WH; Toniolo D; Tönjes A; Visscher PM; Vollenweider P; Wareham NJ; Wolffenbuttel BH; Boomsma DI; Beckmann JS; Dedoussis GV; Deloukas P; Ferreira MA; Sanna S; Uda M; Hicks AA; Penninger JM; Gieger C; Kooner JS; Ouwehand WH; Soranzo N; Chambers JC (2012)
    Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried ...
  • Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits 

    Randall JC; Winkler TW; Kutalik Z; Berndt SI; Jackson AU; Monda KL; Kilpeläinen TO; Esko T; Mägi R; Li S; Workalemahu T; Feitosa MF; Croteau-Chonka DC; Day FR; Fall T; Ferreira T; Gustafsson S; Locke AE; Mathieson I; Scherag A; Vedantam S; Wood AR; Liang L; Steinthorsdottir V; Thorleifsson G; Dermitzakis ET; Dimas AS; Karpe F; Min JL; Nicholson G; Clegg DJ; Person T; Krohn JP; Bauer S; Buechler C; Eisinger K; DIAGRAM Consortium; Bonnefond A; Froguel P; MAGIC Investigators; Hottenga JJ; Prokopenko I; Waite LL; Harris TB; Smith AV; Shuldiner AR; McArdle WL; Caulfield MJ; Munroe PB; Grönberg H; Chen YD; Li G; Beckmann JS; Johnson T; Thorsteinsdottir U; Teder-Laving M; Khaw KT; Wareham NJ; Zhao JH; Amin N; Oostra BA; Kraja AT; Province MA; Cupples LA; Heard-Costa NL; Kaprio J; Ripatti S; Surakka I; Collins FS; Saramies J; Tuomilehto J; Jula A; Salomaa V; Erdmann J; Hengstenberg C; Loley C; Schunkert H; Lamina C; Wichmann HE; Albrecht E; Gieger C; Hicks AA; Johansson A; Pramstaller PP; Kathiresan S; Speliotes EK; Penninx B; Hartikainen AL; Jarvelin MR; Gyllensten U; Boomsma DI; Campbell H; Wilson JF; Chanock SJ; Farrall M; Goel A; Medina-Gomez C; Rivadeneira F; Estrada K; Uitterlinden AG; Hofman A; Zillikens MC; den Heijer M; Kiemeney LA; Maschio A; Hall P; Tyrer J; Teumer A; Völzke H; Kovacs P; Tönjes A; Mangino M; Spector TD; Hayward C; Rudan I; Hall AS; Samani NJ; Attwood AP; Sambrook JG; Hung J; Palmer LJ; Lokki ML; Sinisalo J; Boucher G; Huikuri H; Lorentzon M; Ohlsson C; Eklund N; Eriksson JG; Barlassina C; Rivolta C; Nolte IM; Snieder H; van der Klauw MM; van Vliet-Ostaptchouk JV; Gejman PV; Shi J; Jacobs KB; Wang Z; Bakker SJ; Mateo Leach I; Navis G; van der Harst P; Martin NG; Medland SE; Montgomery GW; Yang J; Chasman DI; Ridker PM; Rose LM; Lehtimäki T; Raitakari O; Absher D; Iribarren C; Basart H; Hovingh KG; Hyppönen E; Power C; Anderson D; Beilby JP; Hui J; Jolley J; Sager H; Bornstein SR; Schwarz PE; Kristiansson K; Perola M; Lindström J; Swift AJ; Uusitupa M; Atalay M; Lakka TA; Rauramaa R; Bolton JL; Fowkes G; Fraser RM; Price JF; Fischer K; Krjutå Kov K; Metspalu A; Mihailov E; Langenberg C; Luan J; Ong KK; Chines PS; Keinanen-Kiukaanniemi SM; Saaristo TE; Edkins S; Franks PW; Hallmans G; Shungin D; Morris AD; Palmer CN; Erbel R; Moebus S; Nöthen MM; Pechlivanis S; Hveem K; Narisu N; Hamsten A; Humphries SE; Strawbridge RJ; Tremoli E; Grallert H; Thorand B; Illig T; Koenig W; Müller-Nurasyid M; Peters A; Boehm BO; Kleber ME; März W; Winkelmann BR; Kuusisto J; Laakso M; Arveiler D; Cesana G; Kuulasmaa K; Virtamo J; Yarnell JW; Kuh D; Wong A; Lind L; de Faire U; Gigante B; Magnusson PK; Pedersen NL; Dedoussis G; Dimitriou M; Kolovou G; Kanoni S; Stirrups K; Bonnycastle LL; Njølstad I; Wilsgaard T; Ganna A; Rehnberg E; Hingorani A; Kivimaki M; Kumari M; Assimes TL; Barroso I; Boehnke M; Borecki IB; Deloukas P; Fox CS; Frayling T; Groop LC; Haritunians T; Hunter D; Ingelsson E; Kaplan R; Mohlke KL; O'Connell JR; Schlessinger D; Strachan DP; Stefansson K; van Duijn CM; Abecasis GR; McCarthy MI; Hirschhorn JN; Qi L; Loos RJ; Lindgren CM; North KE; Heid IM (2013)
    Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass ...
  • The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry 

    Prudente S; Copetti M; Morini E; Mendonca C; Andreozzi F; Chandalia M; Baratta R; DIAGRAM Consortium; Pellegrini F; Mercuri L; Bailetti D; Abate N; Frittitta L; Sesti G; Florez JC; Doria A; Trischitta V (2013)
    BACKGROUND/AIMS: The development of type 2 diabetes (T2D) is influenced both by environmental and by genetic determinants. Obesity is an important risk factor for T2D, mostly mediated by obesity-related insulin resistance. ...
  • The shared allelic architecture of adiponectin levels and coronary artery disease 

    Dastani Z; Johnson T; Kronenberg F; Nelson CP; Assimes TL; März W; CARDIoGRAM Consortium; ADIPOGen Consortium; Richards JB (2013)
    OBJECTIVE: A large body of epidemiologic data strongly suggests an association between excess adiposity and coronary artery disease (CAD). Low adiponectin levels, a hormone secreted only from adipocytes, have been associated ...
  • Single-donor platelet apheresis: observational comparison of the new Haemonetics Universal Platelet protocol with the previous Concentrated Single Donor Platelet protocol 

    Salvadori U; Minelli C; Graziotin B; Gentilini I (2013)
    BACKGROUND: The Haemonetics MCS(®)+ cell separator is a device dedicated to the collection of leucoreduced single-donor platelets. The new Universal Platelet protocol has been introduced to improve the efficiency of ...
  • A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations 

    Imamura M; Maeda S; Yamauchi T; Hara K; Yasuda K; Morizono T; Takahashi A; Horikoshi M; Nakamura M; Fujita H; Tsunoda T; Kubo M; Watada H; Maegawa H; Okada-Iwabu M; Iwabu M; Shojima N; Ohshige T; Omori S; Iwata M; Hirose H; Kaku K; Ito C; Tanaka Y; Tobe K; Kashiwagi A; Kawamori R; Kasuga M; Kamatani N; DIAGRAM Consortium; Nakamura Y; Kadowaki T (2012)
    To identify a novel susceptibility locus for type 2 diabetes, we performed an imputation-based, genome-wide association study (GWAS) in a Japanese population using newly obtained imputed-genotype data for 2 229 890 ...
  • SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila 

    Zanon A; Kalvakuri S; Rakovic A; Foco L; Guida M; Schwienbacher C; Serafin A; Rudolph F; Trilck M; Grünewald A; Stanslowsky N; Wegner F; Giorgio V; Lavdas AA; Bodmer R; Pramstaller PP; Klein C; Hicks AA; Pichler I; Seibler P (2017)
    Mutations in the Parkin gene (PARK2) have been linked to a recessive form of Parkinson's disease (PD) characterized by the loss of dopaminergic neurons in the substantia nigra. Deficiencies of mitochondrial respiratory ...
  • SLP-2: a potential new target for improving mitochondrial function in Parkinson's disease 

    Zanon A; Hicks AA; Pramstaller PP; Pichler I (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 ...
  • SNP prioritization using a Bayesian probability of association 

    Thompson JR; Gögele M; Weichenberger CX; Modenese M; Attia J; Barrett JH; Boehnke M; De Grandi A; Domingues FS; Hicks AA; Marroni F; Pattaro C; Ruggeri F; Borsani G; Casari G; Parmigiani G; Pastore A; Pfeufer A; Schwienbacher C; Taliun D; Consortium C; Fox CS; Pramstaller PP; Minelli C (2013)
    Prioritization is the process whereby a set of possible candidate genes or SNPs is ranked so that the most promising can be taken forward into further studies. In a genome-wide association study, prioritization is usually ...
  • SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches 

    Saint-Pierre A; D'Elia Y; Ciullo M; Pramstaller PP; Pattaro C (2014)
    BACKGROUND: Linkage analysis on extended pedigrees is often challenged by the high computational demand of exact identity-by-descent (IBD) matrix reconstruction. When such an analysis becomes not feasible, two alternative ...
  • SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation 

    Meraviglia V; Ulivi AF; Boccazzi M; Valenza F; Fratangeli A; Passafaro M; Lecca D; Stagni F; Giacomini A; Bartesaghi R; Abbracchio MP; Ceruti S; Rosa P (2016)
    The G protein-coupled receptor 17 (GPR17) plays crucial roles in myelination. It is highly expressed during transition of oligodendrocyte progenitor cells to immature oligodendrocytes, but, after this stage, it must be ...
  • The solvent component of macromolecular crystals 

    Weichenberger CX; Afonine PV; Kantardjieff K; Rupp B (2015)
    The mother liquor from which a biomolecular crystal is grown will contain water, buffer molecules, native ligands and cofactors, crystallization precipitants and additives, various metal ions, and often small-molecule ...
  • SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function 

    Li M; Li Y; Weeks O; Mijatovic V; Teumer A; Huffman JE; Tromp G; Fuchsberger C; Gorski M; Lyytikäinen LP; Nutile T; Sedaghat S; Sorice R; Tin A; Yang Q; Ahluwalia TS; Arking DE; Bihlmeyer NA; Böger CA; Carroll RJ; Chasman DI; Cornelis MC; Dehghan A; Faul JD; Feitosa MF; Gambaro G; Gasparini P; Giulianini F; Heid I; Huang J; Imboden M; Jackson AU; Jeff J; Jhun MA; Katz R; Kifley A; Kilpeläinen TO; Kumar A; Laakso M; Li-Gao R; Lohman K; Lu Y; Mägi R; Malerba G; Mihailov E; Mohlke KL; Mook-Kanamori DO; Robino A; Ruderfer D; Salvi E; Schick UM; Schulz CA; Smith AV; Smith JA; Traglia M; Yerges-Armstrong LM; Zhao W; Goodarzi MO; Kraja AT; Liu C; Boerwinkle E; Borecki IB; Bork-Jensen J; Bottinger EP; Braga D; Brandslund I; Brody JA; Campbell A; Carey DJ; Christensen C; Coresh J; Crook E; Curhan GC; Cusi D; de Boer IH; de Vries AP; Denny JC; Devuyst O; Dreisbach AW; Endlich K; Esko T; Franco OH; Fulop T; Gerhard GS; Glümer C; Gottesman O; Grarup N; Gudnason V; Hansen T; Harris TB; Hayward C; Hocking L; Hofman A; Hu FB; Husemoen LL; Jackson RD; Jørgensen T; Jørgensen ME; Kähönen M; Kardia SL; König W; Kooperberg C; Kriebel J; Launer LJ; Lauritzen T; Lehtimäki T; Levy D; Linksted P; Linneberg A; Liu Y; Loos RJ; Lupo A; Meisinger C; Melander O; Metspalu A; Mitchell P; Nauck M; Nürnberg P; Orho-Melander M; Parsa A; Pedersen O; Peters A; Peters U; Polasek O; Porteous D; Probst-Hensch NM; Psaty BM; Qi L; Raitakari OT; Reiner AP; Rettig R; Ridker PM; Rivadeneira F; Rossouw JE; Schmidt F; Siscovick D; Soranzo N; Strauch K; Toniolo D; Turner ST; Uitterlinden AG; Ulivi S; Velayutham D; Völker U; Völzke H; Waldenberger M; Wang JJ; Weir DR; Witte D; Kuivaniemi H; Fox CS; Franceschini N; Goessling W; Köttgen A; Chu AY; Wessel J (2017)
    Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations ...
  • Statins are protective against appropriate ICD intervention in patients with non-ischemic hypokinetic cardiomyopathy 

    Manfrin M; Foco L; Cima A; Oberhollenzer R; Bonmassari R; Pramstaller PP; Marini M; Cemin R (2017)