Now showing items 332-351 of 425

    • 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 ...
    • 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 ...
    • 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 ...
    • 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 ...
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 

      Hedrich K; Pramstaller PP; Stübke K; Hiller A; Kabakci K; Purmann S; Kasten M; Scaglione C; Schwinger E; Volkmann J; Kostic V; Vieregge P; Martinelli P; Abbruzzese G; Klein C; Zühlke C (2005)
      Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation ...
    • The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies 

      van Vliet-Ostaptchouk JV; Nuotio ML; Slagter SN; Doiron D; Fischer K; Foco L; Gaye A; Gögele M; Heier M; Hiekkalinna T; Joensuu A; Newby C; Pang C; Partinen E; Reischl E; Schwienbacher C; Tammesoo ML; Swertz MA; Burton P; Ferretti V; Fortier I; Giepmans L; Harris JR; Hillege HL; Holmen J; Jula A; Kootstra-Ros JE; Kvaløy K; Holmen TL; Männistö S; Metspalu A; Midthjell K; Murtagh MJ; Peters A; Pramstaller PP; Saaristo T; Salomaa V; Stolk RP; Uusitupa M; van der Harst P; van der Klauw MM; Waldenberger M; Perola M; Wolffenbuttel BH (2014)
      BACKGROUND: Not all obese subjects have an adverse metabolic profile predisposing them to developing type 2 diabetes or cardiovascular disease. The BioSHaRE-EU Healthy Obese Project aims to gain insights into the consequences ...