Now showing items 244-263 of 534

    • Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease 

      Ramos EM; Gillis T; Mysore JS; Lee JM; Gögele M; D'Elia Y; Pichler I; Sequeiros J; Pramstaller PP; Gusella JF; MacDonald ME; Alonso I (2015)
      Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT. We characterized ...
    • 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 ...
    • 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 CX; 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 ...
    • Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study 

      Wilk JB; Tobin JE; Suchowersky O; Shill HA; Klein C; Wooten GF; Lew MF; Mark MH; Guttman M; Watts RL; Singer C; Growdon JH; Latourelle JC; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Berg CJ; Sun M; Goldwurm S; Pezzoli G; Racette BA; Perlmutter JS; Parsian A; Baker KB; Giroux ML; Litvan I; Pramstaller PP; Nicholson G; Burn DJ; Chinnery PF; Vieregge P; Slevin JT; Cambi F; MacDonald ME; Gusella JF; Myers RH; Golbe LI (2006)
      BACKGROUND: Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with exposure to pesticides. Using the GenePD Study ...
    • Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction 

      Gögele M; Pattaro C; Fuchsberger C; Minelli C; Pramstaller PP; Wjst M (2011)
      Although genetic factors are known to influence the human aging process, the proportion of life span and longevity variation explained by them is still controversial. We evaluated the genetic contribution to life span using ...
    • Heterogeneous susceptibility for uraemic media calcification and concomitant inflammation within the arterial tree 

      Kirsch AH; Kirsch A; Artinger K; Schabhüttl C; Goessler W; Klymiuk I; Gülly C; Fritz GA; Frank S; Wimmer R; Brodmann M; Anders HJ; Pramstaller PP; Rosenkranz AR; Eller K; Eller P (2015)
      BACKGROUND: End-stage renal disease (ESRD) is strongly associated with arterial calcification of the tunica media, decreased vascular compliance and sudden cardiac death. Here, we analysed the distribution pattern of ...
    • Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype 

      van Nuenen BF; Weiss MM; Bloem BR; Reetz K; van Eimeren T; Lohmann K; Hagenah J; Pramstaller PP; Binkofski F; Klein C; Siebner HR (2009)
      OBJECTIVE: To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single ...
    • Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? 

      Djarmati A; Hedrich K; Svetel M; Lohnau T; Schwinger E; Romac S; Pramstaller PP; Kostić V; Klein C (2006)
      PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation ...
    • Higher cardiogenic potential of IPSCs derived from cardiac versus skin stromal cells 

      Meraviglia V; Wen J; Piacentini L; Campostrini G; Wang C; Florio MC; Azzimato V; Fassina L; Langes M; Wong J; Miragoli M; Gaetano C; Pompilio G; Barbuti A; DiFrancesco D; Mascalzoni D; Pramstaller PP; Colombo GI; Chen HS; Rossini A (2016)
      Prior studies have demonstrated that founder cell type could influence induced pluripotent stem cells (iPSCs) molecular and developmental properties at early passages after establishing their pluripotent state. Herein, we ...
    • Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations 

      De Grandi A; Franzini M; Rosipal Š; Rosipal R; Debreova M; Corti A; Ruetzler-Dichtl E; Scholl-Bürgi S; Paolicchi A; Pompella A; Emdin M; Zampa G; Witt H; Zoller H; Tilg H; Mayatepek E; Herebian D; Pramstaller PP; Müller T; Janecke AR. (2019)
    • The Histone Deacetylase Inhibitor Suberoylanilide Hydroxamic Acid (SAHA) Restores Cardiomyocyte Contractility in a Rat Model of Early Diabetes 

      Bocchi L; Motta BM; Savi M; Vilella R; Meraviglia V; Rizzi F; Galati S; Buschini A; Lazzaretti M; Pramstaller PP; Rossini A; Stilli D (2019)
      In early diabetes, hyperglycemia and the associated metabolic dysregulation promote early changes in the functional properties of cardiomyocytes, progressively leading to the appearance of the diabetic cardiomyopathy ...
    • How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF) 

      Howard HC; Mascalzoni D; Mabile L; Houeland G; Rial-Sebbag E; Cambon-Thomsen A (2017)
      Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While ...
    • Human biliary tree stem/progenitor cells immunomodulation: Role of hepatocyte growth factor 

      Maraldi T; Guida M; Beretti F; Resca E; Carpino G; Cardinale V; Gentile R; Ardizzoni A; Murgia A; Alvaro D; Gaudio E; De Pol A (2017)
      AIM: Human biliary tree stem/progenitor cells (hBTSC) are multipotent epithelial stem cells with the potential for allogenic transplant in liver, biliary tree, and pancreatic diseases. Human mesenchymal stem cells, but ...
    • Human iPSC-derived cardiomyocytes as a cellular model for studying reduced penetrance in Arrhythmogenic Cardiomyopathy 

      De Bortoli M; Meraviglia V; Cattelan G; Ermon B; De Musso M; Chiarelli R; Motta BM; Volani C; Pagliaro A; Piazza S; De Sanctis V; Rauhe W; Pramstaller PP; Rossini A (2019)
      At: ESC working group on Myocardial and pericardial diseases ; A Coruna ; 04/10/2019 - 05/10/2019 ; Background: Arrhythmogenic cardiomyopathy (ACM) is a disease characterized by ventricular arrhythmias, progressive fibrofatty ...
    • 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 ...
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height 

      Lango Allen H; Estrada K; Lettre G; Berndt SI; Weedon MN; Rivadeneira F; Willer CJ; Jackson AU; Vedantam S; Raychaudhuri S; Ferreira T; Wood AR; Weyant RJ; Segrè AV; Speliotes EK; Wheeler E; Soranzo N; Park JH; Yang J; Gudbjartsson D; Heard-Costa NL; Randall JC; Qi L; Vernon Smith A; Mägi R; Pastinen T; Liang L; Heid IM; Luan J; Thorleifsson G; Winkler TW; Goddard ME; Sin Lo K; Palmer C; Workalemahu T; Aulchenko YS; Johansson A; Zillikens MC; Feitosa MF; Esko T; Johnson T; Ketkar S; Kraft P; Mangino M; Prokopenko I; Absher D; Albrecht E; Ernst F; Glazer NL; Hayward C; Hottenga JJ; Jacobs KB; Knowles JW; Kutalik Z; Monda KL; Polasek O; Preuss M; Rayner NW; Robertson NR; Steinthorsdottir V; Tyrer JP; Voight BF; Wiklund F; Xu J; Zhao JH; Nyholt DR; Pellikka N; Perola M; Perry JR; Surakka I; Tammesoo ML; Altmaier EL; Amin N; Aspelund T; Bhangale T; Boucher G; Chasman DI; Chen C; Coin L; Cooper MN; Dixon AL; Gibson Q; Grundberg E; Hao K; Juhani Junttila M; Kaplan LM; Kettunen J; König IR; Kwan T; Lawrence RW; Levinson DF; Lorentzon M; McKnight B; Morris AP; Müller M; Suh Ngwa J; Purcell S; Rafelt S; Salem RM; Salvi E; Sanna S; Shi J; Sovio U; Thompson JR; Turchin MC; Vandenput L; Verlaan DJ; Vitart V; White CC; Ziegler A; Almgren P; Balmforth AJ; Campbell H; Citterio L; De Grandi A; Dominiczak A; Duan J; Elliott P; Elosua R; Eriksson JG; Freimer NB; Geus EJ; Glorioso N; Haiqing S; Hartikainen AL; Havulinna AS; Hicks AA; Hui J; Igl W; Illig T; Jula A; Kajantie E; Kilpeläinen TO; Koiranen M; Kolcic I; Koskinen S; Kovacs P; Laitinen J; Liu J; Lokki ML; Marusic A; Maschio A; Meitinger T; Mulas A; Paré G; Parker AN; Peden JF; Petersmann A; Pichler I; Pietiläinen KH; Pouta A; Ridderstråle M; Rotter JI; Sambrook JG; Sanders AR; Schmidt CO; Sinisalo J; Smit JH; Stringham HM; Bragi Walters G; Widen E; Wild SH; Willemsen G; Zagato L; Zgaga L; Zitting P; Alavere H; Farrall M; McArdle WL; Nelis M; Peters MJ; Ripatti S; van Meurs JB; Aben KK; Ardlie KG; Beckmann JS; Beilby JP; Bergman RN; Bergmann S; Collins FS; Cusi D; den Heijer M; Eiriksdottir G; Gejman PV; Hall AS; Hamsten A; Huikuri HV; Iribarren C; Kähönen M; Kaprio J; Kathiresan S; Kiemeney L; Kocher T; Launer LJ; Lehtimäki T; Melander O; Mosley TH; Musk AW; Nieminen MS; O'Donnell CJ; Ohlsson C; Oostra B; Palmer LJ; Raitakari O; Ridker PM; Rioux JD; Rissanen A; Rivolta C; Schunkert H; Shuldiner AR; Siscovick DS; Stumvoll M; Tönjes A; Tuomilehto J; van Ommen GJ; Viikari J; Heath AC; Martin NG; Montgomery GW; Province MA; Kayser M; Arnold AM; Atwood LD; Boerwinkle E; Chanock SJ; Deloukas P; Gieger C; Grönberg H; Hall P; Hattersley AT; Hengstenberg C; Hoffman W; Lathrop GM; Salomaa V; Schreiber S; Uda M; Waterworth D; Wright AF; Assimes TL; Barroso I; Hofman A; Mohlke KL; Boomsma DI; Caulfield MJ; Cupples LA; Erdmann J; Fox CS; Gudnason V; Gyllensten U; Harris TB; Hayes RB; Jarvelin MR; Mooser V; Munroe PB; Ouwehand WH; Penninx BW; Pramstaller PP; Quertermous T; Rudan I; Samani NJ; Spector TD; Völzke H; Watkins H; Wilson JF; Groop LC; Haritunians T; Hu FB; Kaplan RC; Metspalu A; North KE; Schlessinger D; Wareham NJ; Hunter DJ; O'Connell JR; Strachan DP; Wichmann HE; Borecki IB; van Duijn CM; Schadt EE; Thorsteinsdottir U; Peltonen L; Uitterlinden AG; Visscher PM; Chatterjee N; Loos RJ; Boehnke M; McCarthy MI; Ingelsson E; Lindgren CM; Abecasis GR; Stefansson K; Frayling TM; Hirschhorn JN (2010)
      Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants ...
    • Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study 

      McNicoll CF; Latourelle JC; MacDonald ME; Lew MF; Suchowersky O; Klein C; Golbe LI; Mark MH; Growdon JH; Wooten GF; Watts RL; Guttman M; Racette BA; Perlmutter JS; Ahmed A; Shill HA; Singer C; SaintHilaire MH; Massood T; Huskey KW; DeStefano AL; Gillis T; Mysore J; Goldwurm S; Pezzoli G; Baker KB; Itin I; Litvan I; Nicholson G; Corbett A; Nance M; Drasby E; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Al-Hinti J; Moller AT; Ostergaard K; Sherman SJ; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
      The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis ...
    • I miei geni – I miei reni: Ricerca genetica sull’insufficienza renale cronica 

      Pattaro C (2019)
      At: Lunga Lotte della ricerca (LUNA 2019) ; Bolzano/Bozen ; 27/09/2019
    • 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 ...