Now showing items 1-20 of 392

  • 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 

    Gorski M; van der Most PJ; Teumer A; Chu AY; Li M; Mijatovic V; Nolte IM; Cocca M; Taliun D; Gomez F; Li Y; Tayo B; Tin A; Feitosa MF; Aspelund T; Attia J; Biffar R; Bochud M; Boerwinkle E; Borecki I; Bottinger EP; Chen MH; Chouraki V; Ciullo M; Coresh J; Cornelis MC; Curhan GC; d'Adamo AP; Dehghan A; Dengler L; Ding J; Eiriksdottir G; Endlich K; Enroth S; Esko T; Franco OH; Gasparini P; Gieger C; Girotto G; Gottesman O; Gudnason V; Gyllensten U; Hancock SJ; Harris TB; Helmer C; Höllerer S; Hofer E; Hofman A; Holliday EG; Homuth G; Hu FB; Huth C; Hutri-Kähönen N; Hwang SJ; Imboden M; Johansson Å; Kähönen M; König W; Kramer H; Krämer BK; Kumar A; Kutalik Z; Lambert JC; Launer LJ; Lehtimäki T; de Borst M; Navis G; Swertz M; Liu Y; Lohman K; Loos RJF; Lu Y; Lyytikäinen LP; McEvoy MA; Meisinger C; Meitinger T; Metspalu A; Metzger M; Mihailov E; Mitchell P; Nauck M; Oldehinkel AJ; Olden M; Wjh Penninx B; Pistis G; Pramstaller PP; Probst-Hensch N; Raitakari OT; Rettig R; Ridker PM; Rivadeneira F; Robino A; Rosas SE; Ruderfer D; Ruggiero D; Saba Y; Sala C; Schmidt H; Schmidt R; Scott RJ; Sedaghat S; Smith AV; Sorice R; Stengel B; Stracke S; Strauch K; Toniolo D; Uitterlinden AG; Ulivi S; Viikari JS; Völker U; Vollenweider P; Völzke H; Vuckovic D; Waldenberger M; Jin Wang J; Yang Q; Chasman DI; Tromp G; Snieder H; Heid IM; Fox CS; Köttgen A; Pattaro C; Böger CA; Fuchsberger C (2017)
    HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, ...
  • 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family 

    Volpato CB; De Grandi A; Buffone E; Facheris M; Gebert U; Schifferle G; Schönhuber R; Hicks A; Pramstaller PP (2009)
    Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC ...
  • 32-channel time-correlated-single-photon-counting system for high-throughput lifetime imaging 

    Peronio P; Labanca I; Acconcia G; Ruggeri A; Lavdas AA; Hicks AA; Pramstaller PP; Ghioni M; Rech I (2017)
    Time-Correlated Single Photon Counting (TCSPC) is a very efficient technique for measuring weak and fast optical signals, but it is mainly limited by the relatively "long" measurement time. Multichannel systems have been ...
  • 3D-cultivation of NSCLC cell lines induce gene expression alterations of key cancer-associated pathways and mimic in-vivo conditions 

    Gamerith G; Rainer J; Huber JM; Hackl H; Trajanoski Z; Koeck S; Lorenz E; Kern J; Kofler R; Kellm JM; Zwierzina H; Amann A (2017)
    This work evaluated gene expression differences between a hanging-drop 3D NSCLC model and 2D cell cultures and their in-vivo relevance by comparison to patient-derived data from The Cancer Genome Atlas. Gene expression of ...
  • 52 Genetic Loci Influencing Myocardial Mass 

    van der Harst P; van Setten J; Verweij N; Vogler G; Franke L; Maurano MT; Wang X; Mateo Leach I; Eijgelsheim M; Sotoodehnia N; Hayward C; Sorice R; Meirelles O; Lyytikäinen LP; Polašek O; Tanaka T; Arking DE; Ulivi S; Trompet S; Müller-Nurasyid M; Smith AV; Dörr M; Kerr KF; Magnani JW; Del Greco M F; Zhang W; Nolte IM; Silva CT; Padmanabhan S; Tragante V; Esko T; Abecasis GR; Adriaens ME; Andersen K; Barnett P; Bis JC; Bodmer R; Buckley BM; Campbell H; Cannon MV; Chakravarti A; Chen LY; Delitala A; Devereux RB; Doevendans PA; Dominiczak AF; Ferrucci L; Ford I; Gieger C; Harris TB; Haugen E; Heinig M; Hernandez DG; Hillege HL; Hirschhorn JN; Hofman A; Hubner N; Hwang SJ; Iorio A; Kähönen M; Kellis M; Kolcic I; Kooner IK; Kooner JS; Kors JA; Lakatta EG; Lage K; Launer LJ; Levy D; Lundby A; Macfarlane PW; May D; Meitinger T; Metspalu A; Nappo S; Naitza S; Neph S; Nord AS; Nutile T; Okin PM; Olsen JV; Oostra BA; Penninger JM; Pennacchio LA; Pers TH; Perz S; Peters A; Pinto YM; Pfeufer A; Pilia MG; Pramstaller PP; Prins BP; Raitakari OT; Raychaudhuri S; Rice KM; Rossin EJ; Rotter JI; Schafer S; Schlessinger D; Schmidt CO; Sehmi J; Silljé HH; Sinagra G; Sinner MF; Slowikowski K; Soliman EZ; Spector TD; Spiering W; Stamatoyannopoulos JA; Stolk RP; Strauch K; Tan ST; Tarasov KV; Trinh B; Uitterlinden AG; van den Boogaard M; van Duijn CM; van Gilst WH; Viikari JS; Visscher PM; Vitart V; Völker U; Waldenberger M; Weichenberger CX; Westra HJ; Wijmenga C; Wolffenbuttel BH; Yang J; Bezzina CR; Munroe PB; Snieder H; Wright AF; Rudan I; Boyer LA; Asselbergs FW; van Veldhuisen DJ; Stricker BH; Psaty BM; Ciullo M; Sanna S; Lehtimäki T; Wilson JF; Bandinelli S; Alonso A; Gasparini P; Jukema JW; Kääb S; Gudnason V; Felix SB; Heckbert SR; de Boer RA; Newton-Cheh C; Hicks AA; Chambers JC; Jamshidi Y; Visel A; Christoffels VM; Isaacs A; Samani NJ; de Bakker PI (2016)
    Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the ...
  • 90-Day Mortality after Radical Cystectomy for Bladder Cancer: Prognostic Factors in a Multicenter Case Series 

    D'Elia C; Comploj E; Cerruto MA; Trenti E; Palermo SM; Melotti R; Artibani W; Pycha A (2016)
    OBJECTIVES: To identify preoperative risk factors for 90-day mortality and to validate existing nomograms in a multicenter series of patients undergoing radical cystectomy (RC). MATERIALS AND METHODS: We evaluated 90-day ...
  • Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers 

    Weissbach A; Bäumer T; Pramstaller PP; Brüggemann N; Tadic V; Chen R; Klein C; Münchau A (2017)
    OBJECTIVES: Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous ...
  • Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study 

    Karamohamed S; Golbe LI; Mark MH; Lazzarini AM; Suchowersky O; Labelle N; Guttman M; Currie LJ; Wooten GF; Stacy M; Saint-Hilaire M; Feldman RG; Liu J; Shoemaker CM; Wilk JB; DeStefano AL; Latourelle JC; Xu G; Watts R; Growdon J; Lew M; Waters C; Vieregge P; Pramstaller PP; Klein C; Racette BA; Perlmutter JS; Parsian A; Singer C; Montgomery E; Baker K; Gusella JF; Herbert A; Myers RH (2005)
    Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic ...
  • Acceleration of the loss of the first-phase insulin response during the progression to type 1 diabetes in diabetes prevention trial-type 1 participants 

    Sosenko JM; Skyler JS; Beam CA; Krischer JP; Greenbaum CJ; Mahon J; Rafkin LE; Matheson D; Herold KC; Palmer JP; Type 1 Diabetes TrialNet and Diabetes Prevention Trial–Type 1 Study Groups (2013)
    We studied the change in the first-phase insulin response (FPIR) during the progression to type 1 diabetes (T1D). Seventy-four oral insulin trial progressors to T1D from the Diabetes Prevention Trial-Type 1 with at least ...
  • Accuracy of a rapid diagnostic test on the diagnosis of malaria infection and of malaria-attributable fever during low and high transmission season in Burkina Faso 

    Bisoffi Z; Sirima SB; Menten J; Pattaro C; Angheben A; Gobbi F; Tinto H; Lodesani C; Neya B; Gobbo M; Van den Ende J (2010)
    BACKGROUND: Malaria management policies currently recommend that the treatment should only be administered after laboratory confirmation. Where microscopy is not available, rapid diagnostic tests (RDTs) are the usual ...
  • Acetylation mediates Cx43 reduction caused by electrical stimulation 

    Meraviglia V; Azzimato V; Colussi C; Florio MC; Binda A; Panariti A; Qanud K; Suffredini S; Gennaccaro L; Miragoli M; Barbuti A; Lampe PD; Gaetano C; Pramstaller PP; Capogrossi MC; Recchia FA; Pompilio G; Rivolta I; Rossini A (2015)
    Communication between cardiomyocytes depends upon gap junctions (GJ). Previous studies have demonstrated that electrical stimulation induces GJ remodeling and modifies histone acetylase (HAT) and deacetylase (HDAC) activities, ...
  • Adapted Finnish Migraine-Specific Questionnaire for family studies (FMSQ(FS)): a validation study in two languages 

    Facheris MF; Vogl FD; Hollmann S; Sixt G; Pattaro C; Schönhuber R; Pramstaller PP (2008)
    BACKGROUND AND PURPOSE: The hypothesis of a genetic component in the etiology of migraine is getting a foothold. However, to explore genetic associations, precision in clinical phenotypization is crucial. For this reason, ...
  • Age at Menarche and Time Spent in Education: a Mendelian Randomization Study 

    Gill D; Del Greco M F; Rawson TM; Sivakumaran P; Brown A; Sheehan NA; Minelli C (2017)
    Menarche signifies the primary event in female puberty and is associated with changes in self-identity. It is not clear whether earlier puberty causes girls to spend less time in education. Observational studies on this ...
  • Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data 

    Biino G; Santimone I; Minelli C; Sorice R; Frongia B; Traglia M; Ulivi S; Di Castelnuovo A; Gögele M; Nutile T; Francavilla M; Sala C; Pirastu N; Cerletti C; Iacoviello L; Gasparini P; Toniolo D; Ciullo M; Pramstaller P; Pirastu M; de Gaetano G; Balduini CL (2013)
    BACKGROUND AND OBJECTIVES: Although several studies demonstrated that platelet count is higher in women, decreases with age, and is influenced by genetic background, most clinical laboratories still use the reference ...
  • Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients 

    Berg D; Niwar M; Maass S; Zimprich A; Möller JC; Wuellner U; Schmitz-Hübsch T; Klein C; Tan EK; Schöls L; Marsh L; Dawson TM; Janetzky B; Müller T; Woitalla D; Kostic V; Pramstaller PP; Oertel WH; Bauer P; Krueger R; Gasser T; Riess O (2005)
    Data on the frequency of alpha-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent ...
  • Anacardic acid and thyroid hormone enhance cardiomyocytes production from undifferentiated mouse ES cells along functionally distinct pathways 

    Re A; Nanni S; Aiello A; Granata S; Colussi C; Campostrini G; Spallotta F; Mattiussi S; Pantisano V; D'Angelo C; Biroccio A; Rossini A; Barbuti A; DiFrancesco D; Trimarchi F; Pontecorvi A; Gaetano C; Farsetti A (2015)
    The epigenetics of early commitment to embryonal cardiomyocyte is poorly understood. In this work, we compared the effect of thyroid hormone and that of anacardic acid, a naturally occurring histone acetylase inhibitor, ...
  • Analysis of physicochemical and structural properties determining HIV-1 coreceptor usage 

    Bozek K; Lengauer T; Sierra S; Kaiser R; Domingues FS (2013)
    The relationship of HIV tropism with disease progression and the recent development of CCR5-blocking drugs underscore the importance of monitoring virus coreceptor usage. As an alternative to costly phenotypic assays, ...
  • Analyzing and visualizing residue networks of protein structures 

    Doncheva NT; Klein K; Domingues FS; Albrecht M (2011)
    The study of individual amino acid residues and their molecular interactions in protein structures is crucial for understanding structure-function relationships. Recent work has indicated that residue networks derived from ...
  • Apoptosis and inflammatory response in human astrocytes are induced by a transmissible cytotoxic agent of neurological origin 

    Beretti F; Ardizzoni A; Cermelli C; Guida M; Maraldi T; Pietrosemoli P; Paulone S; De Pol A; Blasi E; Portolani M (2017)
    We demonstrated the presence of an in vitro transmissible cytotoxic agent (TCA) in the cerebrospinal fluid (CSF) of patients with different acute neurological diseases. The nature of this agent is still a matter of study ...
  • The arachidonic acid metabolome serves as a conserved regulator of cholesterol metabolism 

    Demetz E; Schroll A; Auer K; Heim C; Patsch JR; Eller P; Theurl M; Theurl I; Seifert M; Lener D; Stanzl U; Haschka D; Asshoff M; Dichtl S; Nairz M; Huber E; Stadlinger M; Moschen AR; Li X; Pallweber P; Scharnagl H; Stojakovic T; März W; Kleber ME; Garlaschelli K; Uboldi P; Catapano AL; Stellaard F; Rudling M; Kuba K; Imai Y; Arita M; Schuetz JD; Pramstaller PP; Tietge UJ; Trauner M; Norata GD; Claudel T; Hicks AA; Weiss G; Tancevski I (2014)
    Cholesterol metabolism is closely interrelated with cardiovascular disease in humans. Dietary supplementation with omega-6 polyunsaturated fatty acids including arachidonic acid (AA) was shown to favorably affect plasma ...