Recent Submissions

  • RETTET DIE MEDIZIN!: Wie Ärzte das Ruder wieder selbst in die Hand nehmen können 

    Pramstaller PP (Medizinisch Wissenschaftliche Verlagsgesellschaft, 2016)
    Das Buch beschreibt die Fehlentwicklungen und Irrwege infolge der fortschreitenden Ökonomisierung der Medizin: Während die Politik versucht, die steigenden Gesundheitskosten durch unkoordinierte Regulierung zu deckeln, ...
  • 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 ...
  • Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance 

    Zanon A; Pramstaller P; Hicks A; Pichler I (2018)
    There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD. The two key PD genes related to mitochondrial function are Parkin (PARK2) and PINK1 (PARK6), and also mutations ...
  • A new hypothesis for Parkinson's disease pathogenesis: GTPase-p38 MAPK signaling and autophagy as convergence points of etiology and genomics 

    Obergasteiger J; Frapporti G; Pramstaller PP; Hicks A; Volta M (2018)
    The combination of genetics and genomics in Parkinson´s disease has recently begun to unveil molecular mechanisms possibly underlying disease onset and progression. In particular, catabolic processes such as autophagy have ...
  • Recommendations for Improving the Quality of Rare Disease Registries 

    Kodra Y; Weinbach J; Posada-de-la-Paz M; Coi A; Lemonnier SL; van Enckevort D; Roos M; Jacobsen A; Cornet R; Ahmed SF; Bros-Facer V; Popa V; Van Meel M; Renault D; von Gizycki R; Santoro M; Landais P; Torreri P; Carta C; Mascalzoni D; Gainotti S; Lopez E; Ambrosini A; Müller H; Reis R; Bianchi F; Rubinstein YR; Lochmüller H; Taruscio D (2018)
    Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They ...
  • The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells 

    Rainer J; Meraviglia V; Blankenburg H; Piubelli C; Pramstaller PP; Paolin A; Cogliati E; Pompilio G; Sommariva E; Domingues FS; Rossini A (2018)
    BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a genetic autosomal disease characterized by abnormal cell-cell adhesion, cardiomyocyte death, progressive fibro-adipose replacement of the myocardium, arrhythmias and ...
  • HDAC Inhibition Improves the Sarcoendoplasmic Reticulum Ca2+-ATPase Activity in Cardiac Myocytes 

    Meraviglia V; Bocchi L; Sacchetto R; Florio MC; Motta BM; Corti C; Weichenberger C; Savi; D'Elia Y; Rosato-Siri MD; Suffredini S; Piubelli C; Pompilio G; Pramstaller PP; Domingues F; Rossini A; Stilli D (2018)
    SERCA2a is the Ca2+ ATPase playing the major contribution in cardiomyocyte (CM) calcium removal. Its activity can be regulated by both modulatory proteins and several post-translational modifications. The aim of the present ...
  • Human Macrophages Preferentially Infiltrate the Superficial Adipose Tissue 

    Cappellano G; Morandi EM; Rainer J; Grubwieser P; Heinz K; Wolfram D; Bernhard D; Lobenwein S; Pierer G; Ploner C (2018)
    Human abdominal subcutaneous adipose tissue consists of two individual layers—the superficial adipose tissue (SAT) and deep adipose tissue (DAT)—separated by the Scarpa’s fascia. The present study focuses on the analysis ...
  • Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene 

    Meraviglia V; Benzoni P; Landi S; Murano C; Langione M; Motta BM; Baratto S; Silipigni R; Di Segni M; Pramstaller PP; DiFrancesco D; Gazzerro E; Barbuti A; Rossini A (2018)
    Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral ...
  • Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50 

    Ermon B; Volpato CB; Cattelan G; Silipigni R; Di Segni M; Cantaloni C; Casella M; Pramstaller PP; Pompilio G; Sommariva E; Meraviglia V; Rossini A (2018)
    Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, ...
  • Cryopreservation of Primary Mouse Neurons: The Benefit of Neurostore Cryoprotective Medium 

    Pischedda F; Montani C; Obergasteiger J; Frapporti G; Corti C; Rosato Siri M; Volta M; Piccoli G (2018)
    Primary neuronal culture from rodents is a well-established model to investigate cellular neurobiology in vitro. However, for this purpose cell cultures need to be generated expressly, requiring extensive animal handling. ...
  • Discovery and fine mapping of serum protein loci through transethnic meta-analysis 

    Franceschini N; van Rooij FJ; Prins BP; Feitosa MF; Karakas M; Eckfeldt JH; Folsom AR; Kopp J; Vaez A; Andrews JS; Baumert J; Boraska V; Broer L; Hayward C; Ngwa JS; Okada Y; Polasek O; Westra HJ; Wang YA; Del Greco M F; Glazer NL; Kapur K; Kema IP; Lopez LM; Schillert A; Smith AV; Winkler CA; Zgaga L; LifeLines Cohort Study; Bandinelli S; Bergmann S; Boban M; Bochud M; Chen YD; Davies G; Dehghan A; Ding J; Doering A; Durda JP; Ferrucci L; Franco OH; Franke L; Gunjaca G; Hofman A; Hsu FC; Kolcic I; Kraja A; Kubo M; Lackner KJ; Launer L; Loehr LR; Li G; Meisinger C; Nakamura Y; Schwienbacher C; Starr JM; Takahashi A; Torlak V; Uitterlinden AG; Vitart V; Waldenberger M; Wild PS; Kirin M; Zeller T; Zemunik T; Zhang Q; Ziegler A; Blankenberg S; Boerwinkle E; Borecki IB; Campbell H; Deary IJ; Frayling TM; Gieger C; Harris TB; Hicks AA; Koenig W; O' Donnell CJ; Fox CS; Pramstaller PP; Psaty BM; Reiner AP; Rotter JI; Rudan I; Snieder H; Tanaka T; van Duijn CM; Vollenweider P; Waeber G; Wilson JF; Witteman JC; Wolffenbuttel BH; Wright AF; Wu Q; Liu Y; Jenny NS; North KE; Felix JF; Alizadeh BZ; Cupples LA; Perry JR; Morris AP (2012)
    Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, ...
  • The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives 

    Pattaro C; Marroni F; Riegler A; Mascalzoni D; Pichler I; Volpato CB; Dal Cero U; De Grandi A; Egger C; Eisendle A; Fuchsberger C; Gögele M; Pedrotti S; Pinggera GK; Stefanov SA; Vogl FD; Wiedermann CJ; Meitinger T; Pramstaller PP (2007)
    BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the ...
  • 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 ...
  • Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels 

    Igl W; Johansson A; Wilson JF; Wild SH; Polasek O; Hayward C; Vitart V; Hastie N; Rudan P; Gnewuch C; Schmitz G; Meitinger T; Pramstaller PP; Hicks AA; Oostra BA; van Duijn CM; Rudan I; Wright A; Campbell H; Gyllensten U; EUROSPAN Consortium (2010)
    Genome-wide association studies (GWAS) have identified 38 larger genetic regions affecting classical blood lipid levels without adjusting for important environmental influences. We modeled diet and physical activity in a ...
  • Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed SingleBase-Extension assay: the singular maternal history of the Tyrolean Iceman 

    Endicott P; Sanchez JJ; Pichler I; Brotherton P; Brooks J; Egarter-Vigl E; Cooper A; Pramstaller P (2009)
    BACKGROUND: Progress in the field of human ancient DNA studies has been severely restricted due to the myriad sources of potential contamination, and because of the pronounced difficulty in identifying authentic results. ...
  • Genetic determinants of circulating sphingolipid concentrations in European populations 

    Hicks AA; Pramstaller PP; Johansson A; Vitart V; Rudan I; Ugocsai P; Aulchenko Y; Franklin CS; Liebisch G; Erdmann J; Jonasson I; Zorkoltseva IV; Pattaro C; Hayward C; Isaacs A; Hengstenberg C; Campbell S; Gnewuch C; Janssens AC; Kirichenko AV; König IR; Marroni F; Polasek O; Demirkan A; Kolcic I; Schwienbacher C; Igl W; Biloglav Z; Witteman JC; Pichler I; Zaboli G; Axenovich TI; Peters A; Schreiber S; Wichmann HE; Schunkert H; Hastie N; Oostra BA; Wild SH; Meitinger T; Gyllensten U; van Duijn CM; Wilson JF; Wright A; Schmitz G; Campbell H (2009)
    Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic ...
  • Informed consent in the genomics era 

    Mascalzoni D; Hicks A; Pramstaller P; Wjst M (2008)
  • Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study 

    Tobin JE; Latourelle JC; Lew MF; Klein C; Suchowersky O; Shill HA; Golbe LI; Mark MH; Growdon JH; Wooten GF; Racette BA; Perlmutter JS; Watts R; Guttman M; Baker KB; Goldwurm S; Pezzoli G; Singer C; Saint-Hilaire MH; Hendricks AE; Williamson S; Nagle MW; Wilk JB; Massood T; Laramie JM; DeStefano AL; Litvan I; Nicholson G; Corbett A; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Sherman S; Al-hinti J; Drasby E; Nance M; Moller AT; Ostergaard K; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
    BACKGROUND: Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the association of the MAPT region ...
  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk 

    Dupuis J; Langenberg C; Prokopenko I; Saxena R; Soranzo N; Jackson AU; Wheeler E; Glazer NL; Bouatia-Naji N; Gloyn AL; Lindgren CM; Mägi R; Morris AP; Randall J; Johnson T; Elliott P; Rybin D; Thorleifsson G; Steinthorsdottir V; Henneman P; Grallert H; Dehghan A; Hottenga JJ; Franklin CS; Navarro P; Song K; Goel A; Perry JR; Egan JM; Lajunen T; Grarup N; Sparsø T; Doney A; Voight BF; Stringham HM; Li M; Kanoni S; Shrader P; Cavalcanti-Proença C; Kumari M; Qi L; Timpson NJ; Gieger C; Zabena C; Rocheleau G; Ingelsson E; An P; O'Connell J; Luan J; Elliott A; McCarroll SA; Payne F; Roccasecca RM; Pattou F; Sethupathy P; Ardlie K; Ariyurek Y; Balkau B; Barter P; Beilby JP; Ben-Shlomo Y; Benediktsson R; Bennett AJ; Bergmann S; Bochud M; Boerwinkle E; Bonnefond A; Bonnycastle LL; Borch-Johnsen K; Böttcher Y; Brunner E; Bumpstead SJ; Charpentier G; Chen YD; Chines P; Clarke R; Coin LJ; Cooper MN; Cornelis M; Crawford G; Crisponi L; Day IN; de Geus EJ; Delplanque J; Dina C; Erdos MR; Fedson AC; Fischer-Rosinsky A; Forouhi NG; Fox CS; Frants R; Franzosi MG; Galan P; Goodarzi MO; Graessler J; Groves CJ; Grundy S; Gwilliam R; Gyllensten U; Hadjadj S; Hallmans G; Hammond N; Han X; Hartikainen AL; Hassanali N; Hayward C; Heath SC; Hercberg S; Herder C; Hicks AA; Hillman DR; Hingorani AD; Hofman A; Hui J; Hung J; Isomaa B; Johnson PR; Jørgensen T; Jula A; Kaakinen M; Kaprio J; Kesaniemi YA; Kivimaki M; Knight B; Koskinen S; Kovacs P; Kyvik KO; Lathrop GM; Lawlor DA; Le Bacquer O; Lecoeur C; Li Y; Lyssenko V; Mahley R; Mangino M; Manning AK; Martínez-Larrad MT; McAteer JB; McCulloch LJ; McPherson R; Meisinger C; Melzer D; Meyre D; Mitchell BD; Morken MA; Mukherjee S; Naitza S; Narisu N; Neville MJ; Oostra BA; Orrù M; Pakyz R; Palmer CN; Paolisso G; Pattaro C; Pearson D; Peden JF; Pedersen NL; Perola M; Pfeiffer AF; Pichler I; Polasek O; Posthuma D; Potter SC; Pouta A; Province MA; Psaty BM; Rathmann W; Rayner NW; Rice K; Ripatti S; Rivadeneira F; Roden M; Rolandsson O; Sandbaek A; Sandhu M; Sanna S; Sayer AA; Scheet P; Scott LJ; Seedorf U; Sharp SJ; Shields B; Sigurethsson G; Sijbrands EJ; Silveira A; Simpson L; Singleton A; Smith NL; Sovio U; Swift A; Syddall H; Syvänen AC; Tanaka T; Thorand B; Tichet J; Tönjes A; Tuomi T; Uitterlinden AG; van Dijk KW; van Hoek M; Varma D; Visvikis-Siest S; Vitart V; Vogelzangs N; Waeber G; Wagner PJ; Walley A; Walters GB; Ward KL; Watkins H; Weedon MN; Wild SH; Willemsen G; Witteman JC; Yarnell JW; Zeggini E; Zelenika D; Zethelius B; Zhai G; Zhao JH; Zillikens MC; DIAGRAM Consortium; GIANT Consortium; Global BPgen Consortium; Borecki IB; Loos RJ; Meneton P; Magnusson PK; Nathan DM; Williams GH; Hattersley AT; Silander K; Salomaa V; Smith GD; Bornstein SR; Schwarz P; Spranger J; Karpe F; Shuldiner AR; Cooper C; Dedoussis GV; Serrano-Ríos M; Morris AD; Lind L; Palmer LJ; Hu FB; Franks PW; Ebrahim S; Marmot M; Kao WH; Pankow JS; Sampson MJ; Kuusisto J; Laakso M; Hansen T; Pedersen O; Pramstaller PP; Wichmann HE; Illig T; Rudan I; Wright AF; Stumvoll M; Campbell H; Wilson JF; Anders Hamsten on behalf of Procardis Consortium; MAGIC investigators; Bergman RN; Buchanan TA; Collins FS; Mohlke KL; Tuomilehto J; Valle TT; Altshuler D; Rotter JI; Siscovick DS; Penninx BW; Boomsma DI; Deloukas P; Spector TD; Frayling TM; Ferrucci L; Kong A; Thorsteinsdottir U; Stefansson K; van Duijn CM; Aulchenko YS; Cao A; Scuteri A; Schlessinger D; Uda M; Ruokonen A; Jarvelin MR; Waterworth DM; Vollenweider P; Peltonen L; Mooser V; Abecasis GR; Wareham NJ; Sladek R; Froguel P; Watanabe RM; Meigs JB; Groop L; Boehnke M; McCarthy MI; Florez JC; Barroso I (2010)
    Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and ...

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