Now showing items 100-119 of 422

    • 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 ...
    • ensembldb: an R package to create and use Ensembl-based annotation resources. 

      Rainer J; Gatto L; Weichenberger CX (2019)
      Bioinformatics research frequently involves handling gene-centric data such as exons, transcripts, proteins, and their positions relative to a reference coordinate system. The ensembldb Bioconductor package retrieves and ...
    • 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 ...
    • 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 ...
    • Exome sequencing in a family with restless legs syndrome 

      Weissbach A; Siegesmund K; Brüggemann N; Schmidt A; Kasten M; Pichler I; Muhle H; Lohmann E; Lohnau T; Schwinger E; Hagenah J; Stephani U; Pramstaller PP; Klein C; Lohmann K (2012)
      BACKGROUND: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. METHODS: We evaluated a German ...
    • An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans 

      Scott RA; Scott LJ; Mägi R; Marullo L; Gaulton KJ; Kaakinen M; Pervjakova N; Pers TH; Johnson AD; Eicher JD; Jackson AU; Ferreira T; Lee Y; Ma C; Steinthorsdottir V; Thorleifsson G; Qi L; Van Zuydam NR; Mahajan A; Chen H; Almgren P; Voight BF; Grallert H; Müller-Nurasyid M; Ried JS; Rayner NW; Robertson N; Karssen LC; van Leeuwen EM; Willems SM; Fuchsberger C; Kwan P; Teslovich TM; Chanda P; Li M; Lu Y; Dina C; Thuillier D; Yengo L; Jiang L; Sparso T; Kestler HA; Chheda H; Eisele L; Gustafsson S; Frånberg M; Strawbridge RJ; Benediktsson R; Hreidarsson AB; Kong A; Sigurðsson G; Kerrison ND; Luan J; Liang L; Meitinger T; Roden M; Thorand B; Esko T; Mihailov E; Fox C; Liu CT; Rybin D; Isomaa B; Lyssenko V; Tuomi T; Couper DJ; Pankow JS; Grarup N; Have CT; Jørgensen ME; Jørgensen T; Linneberg A; Cornelis MC; van Dam RM; Hunter DJ; Kraft P; Sun Q; Edkins S; Owen KR; Perry JRB; Wood AR; Zeggini E; Tajes-Fernandes J; Abecasis GR; Bonnycastle LL; Chines PS; Stringham HM; Koistinen HA; Kinnunen L; Sennblad B; Mühleisen TW; Nöthen MM; Pechlivanis S; Baldassarre D; Gertow K; Humphries SE; Tremoli E; Klopp N; Meyer J; Steinbach G; Wennauer R; Eriksson JG; Mӓnnistö S; Peltonen L; Tikkanen E; Charpentier G; Eury E; Lobbens S; Gigante B; Leander K; McLeod O; Bottinger EP; Gottesman O; Ruderfer D; Blüher M; Kovacs P; Tonjes A; Maruthur NM; Scapoli C; Erbel R; Jöckel KH; Moebus S; de Faire U; Hamsten A; Stumvoll M; Deloukas P; Donnelly PJ; Frayling TM; Hattersley AT; Ripatti S; Salomaa V; Pedersen NL; Boehm BO; Bergman RN; Collins FS; Mohlke KL; Tuomilehto J; Hansen T; Pedersen O; Barroso I; Lannfelt L; Ingelsson E; Lind L; Lindgren CM; Cauchi S; Froguel P; Loos RJF; Balkau B; Boeing H; Franks PW; Barricarte Gurrea A; Palli D; van der Schouw YT; Altshuler D; Groop LC; Langenberg C; Wareham NJ; Sijbrands E; van Duijn CM; Florez JC; Meigs JB; Boerwinkle E; Gieger C; Strauch K; Metspalu A; Morris AD; Palmer CNA; Hu FB; Thorsteinsdottir U; Stefansson K; Dupuis J; Morris AP; Boehnke M; McCarthy MI; Prokopenko I; DIAGRAM Consortium (2017)
      To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects of European ...
    • Exploring Approaches for Detecting Protein Functional Similarity within an Orthology-based Framework 

      Weichenberger CX; Palermo A; Pramstaller PP; Domingues FS (2017)
      Protein functional similarity based on gene ontology (GO) annotations serves as a powerful tool when comparing proteins on a functional level in applications such as protein-protein interaction prediction, gene prioritization, ...
    • Exploring digenic inheritance in arrhythmogenic cardiomyopathy 

      König E; Volpato CB; Motta BM; Blankenburg H; Picard A; Pramstaller PP; Casella M; Rauhe W; Pompilio G; Meraviglia V; Domingues F; Sommariva E; Rossini A (2017)
      BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure ...
    • Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD 

      Machner B; Klein C; Sprenger A; Baumbach P; Pramstaller PP; Helmchen C; Heide W (2010)
      OBJECTIVES: Parkin gene mutations are the most common cause of early-onset parkinsonism. Patients with Parkin mutations may be clinically indistinguishable from patients with idiopathic early-onset Parkinson disease (EOPD) ...