Now showing items 360-379 of 459

    • Parental origin of sequence variants associated with complex diseases 

      Kong A; Steinthorsdottir V; Masson G; Thorleifsson G; Sulem P; Besenbacher S; Jonasdottir A; Sigurdsson A; Kristinsson KT; Frigge ML; Gylfason A; Olason PI; Gudjonsson SA; Sverrisson S; Stacey SN; Sigurgeirsson B; Benediktsdottir KR; Sigurdsson H; Jonsson T; Benediktsson R; Olafsson JH; Johannsson OT; Hreidarsson AB; Sigurdsson G; DIAGRAM Consortium; Ferguson-Smith AC; Gudbjartsson DF; Thorsteinsdottir U; Stefansson K (2009)
      Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact ...
    • Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS) 

      Pichler I; Marroni F; Pattaro C; Lohmann K; De Grandi A; Klein C; Hicks AA; Pramstaller PP (2010)
      A co-occurrence of restless legs syndrome (RLS) and Parkin mutations has been described. In South Tyrolean RLS patients, a novel RLS locus has been found (RLS4) and recurrent Parkin mutations have been reported. By a ...
    • Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells 

      Guida M; Zanon A; Montibeller L; Lavdas AA; Ladurner J; Pischedda F; Rakovic A; Domingues FS; Piccoli G; Klein C; Pramstaller PP; Hicks AA; Pichler I (2019)
      Mutations in the PRKN gene (encoding parkin) have been linked to the most frequent known cause of recessive Parkinson's disease (PD), and parkin dysfunction represents a risk factor for sporadic PD. Parkin is widely ...
    • ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease 

      De Grandi A; Volpato CB; Bedin E; Pattaro C; Marroni F; Pichler I; Hicks AA; Casari G; Pramstaller PP (2009)
      A genetic marker screening panel, ParkScreen, optimized for simultaneous marker amplification, was constructed to test or exclude linkage in families with parkinsonism or Parkinson's disease, using only a few affected ...
    • PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees 

      Fuchsberger C; Falchi M; Forer L; Pramstaller PP (2008)
      PedVizApi is a Java API (application program interface) for the visual analysis of large and complex pedigrees. It provides all the necessary functionality for the interactive exploration of extended genealogies. While ...
    • Peptidomimetic escape mechanisms arise via genetic diversity in the ligand-binding site of the hepatitis C virus NS3/4A serine protease 

      Welsch C; Shimakami T; Hartmann C; Yang Y; Domingues FS; Lengauer T; Zeuzem S; Lemon SM (2012)
      BACKGROUND & AIMS: It is a challenge to develop direct-acting antiviral agents that target the nonstructural protein 3/4A protease of hepatitis C virus because resistant variants develop. Ketoamide compounds, designed to ...
    • Peritoneal carcinomatosis 

      Coccolini F; Gheza F; Lotti M; Virzì S; Iusco D; Ghermandi C; Melotti R; Baiocchi G; Giulini SM; Ansaloni L; Catena F (2013)
      Several gastrointestinal and gynecological malignancies have the potential to disseminate and grow in the peritoneal cavity. The occurrence of peritoneal carcinomatosis (PC) has been shown to significantly decrease overall ...
    • Perspectives on Open Science and scientific data sharing:an interdisciplinary workshop 

      Destro-Bisol G; Anagnostou P; Capocasa M; Bencivelli S; Cerroni A; Contreras J; Enke N; Fantini B; Greco P; Heeney C; Luzi D; Manghi P; Mascalzoni D; Molloy J; Parenti F; Wicherts J; Boulton G (2014)
      Looking at Open Science and Open Data from a broad perspective. This is the idea behind "Scientific data sharing: an interdisciplinary workshop", an initiative designed to foster dialogue between scholars from different ...
    • Phase-contrast microtomography: are the tracers necessary for stem cell tracking in infarcted hearts? 

      Giuliani A; Mencarelli M; Frati C; Savi M; Lagrasta C; Pompilio G; Rossini A; Quaini F (2018)
      Recent literature has identified innovative approaches of cellular therapy to generate new myocardium involving transcoronary and intramyocardial injection of cardiac progenitor cells (CPCs). One of the limiting factors ...
    • PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism 

      Klein C; Djarmati A; Hedrich K; Schäfer N; Scaglione C; Marchese R; Kock N; Schüle B; Hiller A; Lohnau T; Winkler S; Wiegers K; Hering R; Bauer P; Riess O; Abbruzzese G; Martinelli P; Pramstaller PP (2005)
      Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of ...
    • Plasma and White Blood Cells Show Different miRNA Expression Profiles in Parkinson's Disease 

      Schwienbacher C; Foco L; Picard A; Corradi E; Serafin A; Panzer J; Zanigni S; Blankenburg H; Facheris MF; Giannini G; Falla M; Cortelli P; Pramstaller PP; Hicks AA. (2017)
      Parkinson's disease (PD) diagnosis is based on the assessment of motor symptoms, which manifest when more than 50% of dopaminergic neurons are degenerated. To date, no validated biomarkers are available for the diagnosis ...
    • Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study 

      Demirkan A; Isaacs A; Ugocsai P; Liebisch G; Struchalin M; Rudan I; Wilson JF; Pramstaller PP; Gyllensten U; Campbell H; Schmitz G; Oostra BA; van Duijn CM (2013)
      The central nervous system has the second highest concentration of lipids after adipose tissue. Alterations in neural membrane phospho- and sphingolipid composition can influence crucial intra- and intercellular signalling ...
    • Plasmid-normalized quantification of relative mitochondrial DNA copy number 

      Fazzini F; Schoepf B; Blatzer M; Coassin S; Hicks AA; Kronenberg F; Fendt L (2018)
    • PM10-induced hospital admissions for asthma and chronic obstructive pulmonary disease: the modifying effect of individual characteristics 

      Canova C; Dunster C; Kelly FJ; Minelli C; Shah PL; Caneja C; Tumilty MK; Burney P (2012)
      BACKGROUND: Evidence suggests that oxidative stress is a unifying feature underlying the toxic actions of particulate matter (PM). We have investigated whether individual plasma antioxidant concentrations (uric acid and ...
    • Population isolates in South Tyrol and their value for genetic dissection of complex diseases 

      Marroni F; Pichler I; De Grandi A; Volpato CB; Vogl FD; Pinggera GK; Bailey-Wilson JE; Pramstaller PP (2006)
      The study of genetic isolates is a promising approach for the study of complex genetic traits. The small and constant population size, lack of migration, and multiple relationships between individuals in the isolate ...
    • The PPARGC1A locus and CNS-specific PGC-1 alpha isoforms are associated with Parkinson's Disease 

      Soyal SM; Zara G; Ferger B; Felder TK; Kwik M; Nofziger C; Dossena S; Schwienbacher C; Hicks AA; Pramstaller PP; Paulmichl M; Weis S; Patsch W (2019)
      Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. PGC-1α, encoded by PPARGC1A, is a transcriptional co-activator that has been implicated in the pathogenesis of neurodegenerative ...
    • PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity 

      vvan Setten J; Brody JA; Jamshidi Y; Swenson BR; Butler AM; Campbell H; Del Greco M F; Evans DS; Gibson Q; Gudbjartsson DF; Kerr KF; Krijthe BP; Lyytikäinen LP; Müller C; Müller-Nurasyid M; Nolte IM; Padmanabhan S; Ritchie MD; Robino A; Smith AV; Steri M; Tanaka T; Teumer A; Trompet S; Ulivi S; Verweij N; Yin X; Arnar DO; Asselbergs FW; Bader JS; Barnard J; Bis J; Blankenberg S; Boerwinkle E; Bradford Y; Buckley BM; Chung MK; Crawford D; den Hoed M; Denny JC; Dominiczak AF; Ehret GB; Eijgelsheim M; Ellinor PT; Felix SB; Franco OH; Franke L; Harris TB; Holm H; Ilaria G; Iorio A; Kähönen M; Kolcic I; Kors JA; Lakatta EG; Launer LJ; Lin H; Lin HJ; Loos RJF; Lubitz SA; Macfarlane PW; Magnani JW; Leach IM; Meitinger T; Mitchell BD; Munzel T; Papanicolaou GJ; Peters A; Pfeufer A; Pramstaller PP; Raitakari OT; Rotter JI; Rudan I; Samani NJ; Schlessinger D; Silva Aldana CT; Sinner MF; Smith JD; Snieder H; Soliman EZ; Spector TD; Stott DJ; Strauch K; Tarasov KV; Thorsteinsdottir U; Uitterlinden AG; Van Wagoner DR; Völker U; Völzke H; Waldenberger M; Jan Westra H; Wild PS; Zeller T; Alonso A; Avery CL; Bandinelli S; Benjamin EJ; Cucca F; Dörr M; Ferrucci L; Gasparini P; Gudnason V; Hayward C; Heckbert SR; Hicks AA; Jukema JW; Kääb S; Lehtimäki T; Liu Y; Munroe PB; Parsa A; Polasek O; Psaty BM; Roden DM; Schnabel RB; Sinagra G; Stefansson K; Stricker BH; van der Harst P; van Duijn CM; Wilson JF; Gharib SA; de Bakker PIW; Isaacs A; Arking DE; Sotoodehnia N (2018)
      Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 ...
    • Practical barriers and ethical challenges in genetic data sharing 

      Simpson CL; Goldenberg AJ; Culverhouse R; Daley D; Igo RP; Jarvik GP; Mandal DM; Mascalzoni D; Montgomery CG; Pierce B; Plaetke R; Shete S; Goddard KA; Stein CM (2014)
      The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes ...
    • Pre-analytic evaluation of volumetric absorptive microsampling and integration in a mass spectrometry-based metabolomics workflow 

      Volani C; Caprioli G; Calderisi G; Sigurdsson BB; Rainer J; Gentilini I; Hicks AA; Pramstaller PP; Weiss G; Smarason SV; Paglia G (2017)
      Volumetric absorptive microsampling (VAMS) is a novel approach that allows single-drop (10 μL) blood collection. Integration of VAMS with mass spectrometry (MS)-based untargeted metabolomics is an attractive solution for ...
    • Predicting interactions between T cell receptors and MHC-peptide complexes 

      Roomp K; Domingues FS (2011)
      Conserved interactions between T cell receptors (TCRs) and major histocompatibility complex (MHC) proteins with bound peptide antigens are not well understood. In order to gain a better understanding of the interaction ...