Now showing items 96-115 of 425

    • Early DEtection of wEaring off in Parkinson disease: the DEEP study 

      Stocchi F; Antonini A; Barone P; Tinazzi M; Zappia M; Onofrj M; Ruggieri S; Morgante L; Bonuccelli U; Lopiano L; Pramstaller P; Albanese A; Attar M; Posocco V; Colombo D; Abbruzzese G; DEEP study group (2014)
      OBJECTIVE: Assessing the frequency of Wearing-Off (WO) in Parkinson's disease (PD) patients, and its impact on Quality of Life (QoL). METHODS: Consecutive ambulatory patients, who were on dopaminergic treatment for ≥ 1 ...
    • The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study 

      Gill D; Del Greco M F; Walker AP; Srai SKS; Laffan MA; Minelli C (2017)
      OBJECTIVE: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on ...
    • Effects of gender and aging on differential autonomic responses to orthostatic maneuvers 

      Barantke M; Krauss T; Ortak J; Lieb W; Reppel M; Burgdorf C; Pramstaller PP; Schunkert H; Bonnemeier H (2008)
      BACKGROUND: There are gender differences in heart rate and blood pressure response to postural change. Also, normal aging is often associated with diminished cardiac autonomic modulation during postural change from supine ...
    • Efficient haplotype block recognition of very long and dense genetic sequences 

      Taliun D; Gamper J; Pattaro C (2014)
      BACKGROUND: The new sequencing technologies enable to scan very long and dense genetic sequences, obtaining datasets of genetic markers that are an order of magnitude larger than previously available. Such genetic sequences ...
    • Elevated levels of alpha-synuclein blunt cellular signal transduction downstream of Gq protein-coupled receptors 

      Volta M; Lavdas AA; Obergasteiger J; Überbacher C; Picard A; Pramstaller PP; Hicks AA; Corti C (2017)
      Alpha-synuclein is central to Parkinson's disease pathogenesis and pathology, however its precise functions are still unclear. It has been shown to bind both PLCβ1 and MAPKs, but how this property influences the downstream ...
    • Elucidating dynamic metabolic physiology through network integration of quantitative time-course metabolomics 

      Bordbar A; Yurkovich JT; Paglia G; Rolfsson O; Sigurjónsson ÓE; Palsson BO (2017)
      The increasing availability of metabolomics data necessitates novel methods for deeper data analysis and interpretation. We present a flux balance analysis method that allows for the computation of dynamic intracellular ...
    • emeraLD: rapid linkage disequilibrium estimation with massive datasets 

      Quick C; Fuchsberger C; Taliun D; Abecasis G; Boehnke M; Kang HM (2018)
      Estimating linkage disequilibrium (LD) is essential for a wide range of summary statistics-based association methods for genome-wide association studies. Large genetic datasets, e.g. the TOPMed WGS project and UK Biobank, ...
    • Enhanced sensitivity of the RET proto-oncogene to ionizing radiation in vitro 

      Volpato CB; Martínez-Alfaro M; Corvi R; Gabus C; Sauvaigo S; Ferrari P; Bonora E; De Grandi A; Romeo G (2008)
      Exposure to ionizing radiation is a well-known risk factor for a number of human cancers, including leukemia and thyroid cancer. It has been known for a long time that exposure of cells to radiation results in extensive ...
    • Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance 

      Zanon A; Pramstaller P; Hicks A; Pichler I (2018)
      There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD. The two key PD genes related to mitochondrial function are Parkin (PARK2) and PINK1 (PARK6), and also mutations ...
    • Epistatic role of the MYH9/APOL1 region on familial hematuria genes 

      Voskarides K; Demosthenous P; Papazachariou L; Arsali M; Athanasiou Y; Zavros M; Stylianou K; Xydakis D; Daphnis E; Gale DP; Maxwell PH; Elia A; Pattaro C; Pierides A; Deltas C (2013)
      Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...
    • Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy 

      Marroni F; Grazio D; Pattaro C; Devoto M; Pramstaller P (2008)
      As part of the genomic health care program 'GenNova', we measured 43 quantitative traits in 1,136 subjects living in three isolated villages in South Tyrol (Italy), for which extended genealogical information was available. ...
    • Estimating the glomerular filtration rate in the general population using different equations: effects on classification and association 

      Pattaro C; Riegler P; Stifter G; Modenese M; Minelli C; Pramstaller PP (2013)
      BACKGROUND/AIMS: Several formulas for glomerular filtration rate (GFR) estimation, based on serum creatinine or cystatin C, have been proposed. We assessed the impact of some of these equations on estimated GFR (eGFR) and ...
    • Estrogen receptor signaling in the ferutinin-induced osteoblastic differentiation of human amniotic fluid stem cells 

      Zavatti M; Guida M; Maraldi T; Beretti F; Bertoni L; La Sala GB; De Pol A (2016)
      AIMS: Ferutinin is a diaucane sesquiterpene with a high estrogenic activity. Since ferutinin is able to enhance osteoblastic differentiation of human amniotic fluid stem cells (hAFSCs), the aim of this study was to ...
    • Ethics, law and governance of biobanking: national, European and international approaches 

      Mascalzoni D (Springer, 2015)
      Biobank research and genomic information are changing the way we look at health and medicine. Genomics challenges our values and has always been controversial and difficult to regulate. In the future lies the promise of ...
    • Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees 

      Jun G; Manning A; Almeida M; Zawistowski M; Wood AR; Teslovich TM; Fuchsberger C; Feng S; Cingolani P; Gaulton KJ; Dyer T; Blackwell TW; Chen H; Chines PS; Choi S; Churchhouse C; Fontanillas P; King R; Lee S; Lincoln SE; Trubetskoy V; DePristo M; Fingerlin T; Grossman R; Grundstad J; Heath A; Kim J; Kim YJ; Laramie J; Lee J; Li H; Liu X; Livne O; Locke AE; Maller J; Mazur A; Morris AP; Pollin TI; Ragona D; Reich D; Rivas MA; Scott LJ; Sim X; Tearle RG; Teo YY; Williams AL; Zöllner S; Curran JE; Peralta J; Akolkar B; Bell GI; Burtt NP; Cox NJ; Florez JC; Hanis CL; McKeon C; Mohlke KL; Seielstad M; Wilson JG; Atzmon G; Below JE; Dupuis J; Nicolae DL; Lehman D; Park T; Won S; Sladek R; Altshuler D; McCarthy MI; Duggirala R; Boehnke M; Frayling TM; Abecasis GR; Blangero J (2018)
      A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare ...
    • Evaluation of Seasonal Variability of Toxic and Essential Elements in Urine Analyzed by Inductively Coupled Plasma Mass Spectrometry 

      Paglia G; Miedico O; Tarallo M; Lovino A; Astarita G; Chiaravalle AE; Corso G (2016)
      Human exposure to elements is a process difficult to control and monitor. Studies on this topic usually rely on single spot urine sample to assess exposure, with the risk of ignoring variability over a longer period. In ...
    • Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? 

      Lohmann-Hedrich K; Neumann A; Kleensang A; Lohnau T; Muhle H; Djarmati A; König IR; Pramstaller PP; Schwinger E; Kramer PL; Ziegler A; Stephani U; Klein C (2008)
      BACKGROUND: Restless legs syndrome (RLS) is a common sensory-motor disorder characterized by paresthesias and an intense urge to move the legs with a considerable familial aggregation. To date, no gene mutation has been ...
    • Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index 

      Hinney A; Kesselmeier M; Jall S; Volckmar AL; Föcker M; Antel J; GCAN; WTCCC3; Heid IM; Winkler TW; GIANT; Grant SF; EGG; Guo Y; Bergen AW; Kaye W; Berrettini W; Hakonarson H; Price Foundation Collaborative Group; Children’s Hospital of Philadelphia/Price Foundation; Herpertz-Dahlmann B; de Zwaan M; Herzog W; Ehrlich S; Zipfel S; Egberts KM; Adan R; Brandys M; van Elburg A; Boraska Perica V; Franklin CS; Tschöp MH; Zeggini E; Bulik CM; Collier D; Scherag A; Müller TD; Hebebrand J (2017)
      The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to ...
    • Evidence of inbreeding depression on human height 

      McQuillan R; Eklund N; Pirastu N; Kuningas M; McEvoy BP; Esko T; Corre T; Davies G; Kaakinen M; Lyytikäinen LP; Kristiansson K; Havulinna AS; Gögele M; Vitart V; Tenesa A; Aulchenko Y; Hayward C; Johansson A; Boban M; Ulivi S; Robino A; Boraska V; Igl W; Wild SH; Zgaga L; Amin N; Theodoratou E; Polašek O; Girotto G; Lopez LM; Sala C; Lahti J; Laatikainen T; Prokopenko I; Kals M; Viikari J; Yang J; Pouta A; Estrada K; Hofman A; Freimer N; Martin NG; Kähönen M; Milani L; Heliövaara M; Vartiainen E; Räikkönen K; Masciullo C; Starr JM; Hicks AA; Esposito L; Kolčić I; Farrington SM; Oostra B; Zemunik T; Campbell H; Kirin M; Pehlic M; Faletra F; Porteous D; Pistis G; Widén E; Salomaa V; Koskinen S; Fischer K; Lehtimäki T; Heath A; McCarthy MI; Rivadeneira F; Montgomery GW; Tiemeier H; Hartikainen AL; Madden PA; D'Adamo P; Hastie ND; Gyllensten U; Wright AF; van Duijn CM; Dunlop M; Rudan I; Gasparini P; Pramstaller PP; Deary IJ; Toniolo D; Eriksson JG; Jula A; Raitakari OT; Metspalu A; Perola M; Järvelin MR; Uitterlinden A; Visscher PM; Wilson JF; ROHgen Consortium (2012)
      Stature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS) have successfully identified many common additive ...
    • Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC) 

      Volpato CB; De Grandi A; Buffone E; Pichler I; Gebert U; Schifferle G; Schönhuber R; Pramstaller PP (2008)
      Familial Idiopathic Basal Ganglia Calcification (FIBGC) is a neurodegenerative syndrome that usually follows an autosomal dominant pattern of inheritance. Linkage to only one locus on chromosome 14q (IBCG1) has been described ...