Now showing items 378-397 of 424

    • Restless legs syndrome: an update on genetics and future perspectives 

      Pichler I; Hicks AA; Pramstaller PP (2008)
      Restless legs syndrome (RLS) is a common, underdiagnosed neurological condition with an age-dependent prevalence of up to 14%. Familial aggregation has been widely shown since Ekbom's first description of the disorder in ...
    • Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate 

      Vogl FD; Pichler I; Adel S; Pinggera GK; Bracco S; De Grandi A; Volpato CB; Aridon P; Mayer T; Meitinger T; Klein C; Casari G; Pramstaller PP (2006)
      Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage ...
    • The Role of Solidarity(-ies) in Rare Diseases Research 

      Mascalzoni D; Petrini C; Taruscio D; Gainotti S (2017)
      Solidarity plays a relevant role in rare diseases (RDs) research to create and enable research in the field. In Europe RDs are estimated to affect between 27 and 36 million people even though single RDs can count very few ...
    • 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 ...