Now showing items 21-40 of 534

    • 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 influenza vaccination coverage among the elderly living in Rome, based on a deprivation index, 2009-13 

      Vukovic V; Lillini R; Asta F; Chini F; De Waure C (2018)
      Introduction: Elderly people are more likely to develop influenza-related complications, but despite the recommendations, the optimal vaccination coverage is not reached. The use of deprivation indices can help identifying ...
    • 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 ...
    • Annotation resources 

      Shepherd L; Rainer J (2019)
      At: CSAMA 2019: Statistical Data Analysis for Genome Scale Biology ; Bressanone/Brixen ; 21/07/2019 - 26/07/2019
    • 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 ...
    • Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to generate novel knock-in reporter lines to visualize dopaminergic neurons 

      Überbacher C; Obergasteiger J; Volta M; Venezia S; Müller S; Pesce I; Pizzi S; Lamonaca G; Picard A; Cattelan G; Malpeli G; Zoli M; Beccano-Kelly D; Flynn R; Wade-Martins R; Pramstaller PP; Hicks AA; Cowley SA; Corti C (2019)
      Human induced pluripotent stem cells (hiPSCs) have become indispensable for disease modelling. They are an important resource to access patient cells harbouring disease-causing mutations. Derivation of midbrain dopaminergic ...
    • 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 ...
    • Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation? 

      Mascalzoni D; Bentzen HB; Budin-Ljosne I; Bygrave LA; Bell J; Dove ES; Fuchsberger C; Hveem K; Mayrhofer MT; Meraviglia V; O'Brien DR; Pattaro C; Pramstaller PP; Rakic V; Rossini A; Shabani M; Svantesson DJB; Tomasi M; Ursin L; Wjst M; Kaye J (2019)
    • Are requirements to deposit data in research repositories compatible with the GDPR? 

      Mascalzoni D; Bentzen HB (2019)
      At: European Society of Human Genetics ; Gothenburg ; 15/06/2019 - 18/06/2019
    • 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 ...
    • Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic 

      Bowden J; Del Greco M F; Minelli C; Davey Smith G; Sheehan NA; Thompson JR (2016)
      Background: : MR-Egger regression has recently been proposed as a method for Mendelian randomization (MR) analyses incorporating summary data estimates of causal effect from multiple individual variants, which is robust ...
    • Association between restless legs syndrome and hypertension: a preliminary population-based study in South Tyrol, Italy 

      Giannini G; Zanigni S; Melotti R; Gögele M; Provini F; Facheris MF; Cortelli P; Pramstaller PP (2014)
      BACKGROUND AND PURPOSE: Restless legs syndrome (RLS) is a sleep-related movement disorder characterized by an irresistible urge to move the legs accompanied by paresthesia and/or dysesthesia that begins or worsens in the ...
    • Association between restless legs syndrome and migraine: a population-based study 

      Zanigni S; Giannini G; Melotti R; Pattaro C; Provini F; Cevoli S; Facheris MF; Cortelli P; Pramstaller PP (2014)
      BACKGROUND AND PURPOSE: A higher prevalence of restless legs syndrome (RLS) in migraineurs has been reported in clinical samples and in two large-scale clinical trials performed on healthcare workers but general ...
    • Association of Chromosome 9p21 with subsequent Coronary Heart Disease Events 

      Patel RS; Schmidt AF; Tragante V; McCubrey RO; Holmes MV; Howe LJ; Direk K; Åkerblom A; Leander K; Virani SS; Kaminski KA; Muehlschlegel JD; Dubé MP; Allayee H; Almgren P; Alver M; Baranova EV; Behlouli H; Boeckx B; Braund PS; Breitling LP; Delgado G; Duarte NE; Dufresne L; Eriksson N; Foco L; Gijsberts CM; Gong Y; Hartiala J; Heydarpour M; Hubacek JA; Kleber M; Kofink D; Kuukasjärvi P; Lee VV; Leiherer A; Lenzini PA; Levin D; Lyytikäinen LP; Martinelli N; Mons U; Nelson CP; Nikus K; Pilbrow AP; Ploski R; Sun YV; Tanck MWT; Tang WHW; Trompet S; van der Laan SW; van Setten J; Vilmundarson RO; Viviani Anselmi C; Vlachopoulou E; Boerwinkle E; Briguori C; Carlquist JF; Carruthers KF; Casu G; Deanfield J; Deloukas P; Dudbridge F; Fitzpatrick N; Gigante B; James S; Lokki ML; Lotufo PA; Marziliano N; Mordi IR; Muhlestein JB; Newton Cheh C; Pitha J; Saely CH; Samman-Tahhan A; Sandesara PB; Teren A; Timmis A; Van de Werf F; Wauters E; Wilde AAM; Ford I; Stott DJ; Algra A; Andreassi MG; Ardissino D; Arsenault BJ; Ballantyne CM; Bergmeijer TO; Bezzina CR; Body SC; Bogaty P; de Borst GJ; Brenner H; Burkhardt R; Carpeggiani C; Condorelli G; Cooper-DeHoff RM; Cresci S; de Faire U; Doughty RN; Drexel H; Engert JC; Fox KAA; Girelli D; Hagström E; Hazen SL; Held C; Hemingway H; Hoefer IE; Hovingh GK; Johnson JA; de Jong PA; Jukema JW; Kaczor MP; Kähönen M; Kettner J; Kiliszek M; Klungel OH; Lagerqvist B; Lambrechts D; Laurikka JO; Lehtimäki T; Lindholm D; Mahmoodi BK; Maitland-van der Zee AH; McPherson R; Melander O; Metspalu A; Pepinski W; Olivieri O; Opolski G; Palmer CN; Pasterkamp G; Pepine CJ; Pereira AC; Pilote L; Quyyumi AA; Richards AM; Sanak M; Scholz M; Siegbahn A; Sinisalo J; Smith JG; Spertus JA; Stewart AFR; Szczeklik W; Szpakowicz A; Ten Berg JM; Thanassoulis G; Thiery J; van der Graaf Y; Visseren FLJ; Waltenberger J; CARDIoGRAMPlusC4D Consortium; Van der Harst P; Tardif JC; Sattar N; Lang CC; Pare G; Brophy JM; Anderson JL; März W; Wallentin L; Cameron VA; Horne BD; Samani NJ; Hingorani AD; Asselbergs FW (2019)
      BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value ...
    • Association of common variants in arrhythmogenic cardiomyopathy desmosomal genes with ECG traits in the general population 

      Foco L; Fuchsberger C; Gögele M; Murgia F; Schmidt G; Rossini A; Pramstaller P; Pattaro P (2017)
      Purpose Arrhythmogenic cardiomyopathy (AC) is a rare condition, with familial inheritance, featuring life-threatening arrhythmias and cardiomyocite replacement with fibro-fatty cells. Such alterations are reflected in ...
    • Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study 

      Fox ER; Young JH; Li Y; Dreisbach AW; Keating BJ; Musani SK; Liu K; Morrison AC; Ganesh S; Kutlar A; Ramachandran VS; Polak JF; Fabsitz RR; Dries DL; Farlow DN; Redline S; Adeyemo A; Hirschorn JN; Sun YV; Wyatt SB; Penman AD; Palmas W; Rotter JI; Townsend RR; Doumatey AP; Tayo BO; Mosley TH; Lyon HN; Kang SJ; Rotimi CN; Cooper RS; Franceschini N; Curb JD; Martin LW; Eaton CB; Kardia SL; Taylor HA; Caulfield MJ; Ehret GB; Johnson T; International Consortium for Blood Pressure Genome-wide Association Studies (ICBP-GWAS); Chakravarti A; Zhu X; Levy D (2011)
      The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified ...
    • Associations of autozygosity with a broad range of human phenotypes 

      Clark DW; Okada Y; Moore KHS; Mason D; Pirastu N; Gandin I; Mattsson H; Barnes CLK; Lin K; Zhao JH; Deelen P; Rohde R; Schurmann C; Guo X; Giulianini F; Zhang W; Medina-Gomez C; Karlsson R; Bao Y; Bartz TM; Baumbach C; Biino G; Bixley MJ; Brumat M; Chai JF; Corre T; Cousminer DL; Dekker AM; Eccles DA; van Eijk KR; Fuchsberger C; Gao H; Germain M; Gordon SD; de Haan HG; Harris SE; Hofer E; Huerta-Chagoya A; Igartua C; Jansen IE; Jia Y; Kacprowski T; Karlsson T; Kleber ME; Li SA; Li-Gao R; Mahajan A; Matsuda K; Meidtner K; Meng W; Montasser ME; van der Most PJ; Munz M; Nutile T; Palviainen T; Prasad G; Prasad RB; Priyanka TDS; Rizzi F; Salvi E; Sapkota BR; Shriner D; Skotte L; Smart MC; Smith AV; van der Spek A; Spracklen CN; Strawbridge RJ; Tajuddin SM; Trompet S; Turman C; Verweij N; Viberti C; Wang L; Warren HR; Wootton RE; Yanek LR; Yao J; Yousri NA; Zhao W; Adeyemo AA; Afaq S; Aguilar-Salinas CA; Akiyama M; Albert ML; Allison MA; Alver M; Aung T; Azizi F; Bentley AR; Boeing H; Boerwinkle E; Borja JB; de Borst GJ; Bottinger EP; Broer L; Campbell H; Chanock S; Chee ML; Chen G; Chen YI; Chen Z; Chiu YF; Cocca M; Collins FS; Concas MP; Corley J; Cugliari G; van Dam RM; Damulina A; Daneshpour MS; Day FR; Delgado GE; Dhana K; Doney ASF; Dörr M; Doumatey AP; Dzimiri N; Ebenesersdóttir SS; Elliott J; Elliott P; Ewert R; Felix JF; Fischer K; Freedman BI; Girotto G; Goel A; Gögele M; Goodarzi MO; Graff M; Granot-Hershkovitz E; Grodstein F; Guarrera S; Gudbjartsson DF; Guity K; Gunnarsson B; Guo Y; Hagenaars SP; Haiman CA; Halevy A; Harris TB; Hedayati M; van Heel DA; Hirata M; Höfer I; Hsiung CA; Huang J; Hung YJ; Ikram MA; Jagadeesan A; Jousilahti P; Kamatani Y; Kanai M; Kerrison ND; Kessler T; Khaw KT; Khor CC; de Kleijn DPV; Koh WP; Kolcic I; Kraft P; Krämer BK; Kutalik Z; Kuusisto J; Langenberg C; Launer LJ; Lawlor DA; Lee IT; Lee WJ; Lerch MM; Li L; Liu J; Loh M; London SJ; Loomis S; Lu Y; Luan J; Mägi R; Manichaikul AW; Manunta P; Másson G; Matoba N; Mei XW; Meisinger C; Meitinger T; Mezzavilla M; Milani L; Millwood IY; Momozawa Y; Moore A; Morange PE; Moreno-Macías H; Mori TA; Morrison AC; Muka T; Murakami Y; Murray AD; de Mutsert R; Mychaleckyj JC; Nalls MA; Nauck M; Neville MJ; Nolte IM; Ong KK; Orozco L; Padmanabhan S; Pálsson G; Pankow JS; Pattaro C; Pattie A; Polasek O; Poulter N; Pramstaller PP; Quintana-Murci L; Räikkönen K; Ralhan S; Rao DC; van Rheenen W; Rich SS; Ridker PM; Rietveld CA; Robino A; van Rooij FJA; Ruggiero D; Saba Y; Sabanayagam C; Sabater-Lleal M; Sala CF; Salomaa V; Sandow K; Schmidt H; Scott LJ; Scott WR; Sedaghati-Khayat B; Sennblad B; van Setten J; Sever PJ; Sheu WH; Shi Y; Shrestha S; Shukla SR; Sigurdsson JK; Sikka TT; Singh JR; Smith BH; Stančáková A; Stanton A; Starr JM; Stefansdottir L; Straker L; Sulem P; Sveinbjornsson G; Swertz MA; Taylor AM; Taylor KD; Terzikhan N; Tham YC; Thorleifsson G; Thorsteinsdottir U; Tillander A; Tracy RP; Tusié-Luna T; Tzoulaki I; Vaccargiu S; Vangipurapu J; Veldink JH; Vitart V; Völker U; Vuoksimaa E; Wakil SM; Waldenberger M; Wander GS; Wang YX; Wareham NJ; Wild S; Yajnik CS; Yuan JM; Zeng L; Zhang L; Zhou J; Amin N; Asselbergs FW; Bakker SJL; Becker DM; Lehne B; Bennett DA; van den Berg LH; Berndt SI; Bharadwaj D; Bielak LF; Bochud M; Boehnke M; Bouchard C; Bradfield JP; Brody JA; Campbell A; Carmi S; Caulfield MJ; Cesarini D; Chambers JC; Chandak GR; Cheng CY; Ciullo M; Cornelis M; Cusi D; Smith GD; Deary IJ; Dorajoo R; van Duijn CM; Ellinghaus D; Erdmann J; Eriksson JG; Evangelou E; Evans MK; Faul JD; Feenstra B; Feitosa M; Foisy S; Franke A; Friedlander Y; Gasparini P; Gieger C; Gonzalez C; Goyette P; Grant SFA; Griffiths LR; Groop L; Gudnason V; Gyllensten U; Hakonarson H; Hamsten A; van der Harst P; Heng CK; Hicks AA; Hochner H; Huikuri H; Hunt SC; Jaddoe VWV; De Jager PL; Johannesson M; Johansson Å; Jonas JB; Jukema JW; Junttila J; Kaprio J; Kardia SLR; Karpe F; Kumari M; Laakso M; van der Laan SW; Lahti J; Laudes M; Lea RA; Lieb W; Lumley T; Martin NG; März W; Matullo G; McCarthy MI; Medland SE; Merriman TR; Metspalu A; Meyer BF; Mohlke KL; Montgomery GW; Mook-Kanamori D; Munroe PB; North KE; Nyholt DR; O'connell JR; Ober C; Oldehinkel AJ; Palmas W; Palmer C; Pasterkamp GG; Patin E; Pennell CE; Perusse L; Peyser PA; Pirastu M; Polderman TJC; Porteous DJ; Posthuma D; Psaty BM; Rioux JD; Rivadeneira F; Rotimi C; Rotter JI; Rudan I; Den Ruijter HM; Sanghera DK; Sattar N; Schmidt R; Schulze MB; Schunkert H; Scott RA; Shuldiner AR; Sim X; Small N; Smith JA; Sotoodehnia N; Tai ES; Teumer A; Timpson NJ; Toniolo D; Tregouet DA; Tuomi T; Vollenweider P; Wang CA; Weir DR; Whitfield JB; Wijmenga C; Wong TY; Wright J; Yang J; Yu L; Zemel BS; Zonderman AB; Perola M; Magnusson PKE; Uitterlinden AG; Kooner JS; Chasman DI; Loos RJF; Franceschini N; Franke L; Haley CS; Hayward C; Walters RG; Perry JRB; Esko T; Helgason A; Stefansson K; Joshi PK; Kubo M; Wilson JF (2019)
      In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction ...
    • ATP13A2 variants in early-onset Parkinson's disease patients and controls 

      Djarmati A; Hagenah J; Reetz K; Winkler S; Behrens MI; Pawlack H; Lohmann K; Ramirez A; Tadić V; Brüggemann N; Berg D; Siebner HR; Lang AE; Pramstaller PP; Binkofski F; Kostić VS; Volkmann J; Gasser T; Klein C (2009)
      Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a ...