Now showing items 401-420 of 424

    • Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases 

      Perry JR; Voight BF; Yengo L; Amin N; Dupuis J; Ganser M; Grallert H; Navarro P; Li M; Qi L; Steinthorsdottir V; Scott RA; Almgren P; Arking DE; Aulchenko Y; Balkau B; Benediktsson R; Bergman RN; Boerwinkle E; Bonnycastle L; Burtt NP; Campbell H; Charpentier G; Collins FS; Gieger C; Green T; Hadjadj S; Hattersley AT; Herder C; Hofman A; Johnson AD; Kottgen A; Kraft P; Labrune Y; Langenberg C; Manning AK; Mohlke KL; Morris AP; Oostra B; Pankow J; Petersen AK; Pramstaller PP; Prokopenko I; Rathmann W; Rayner W; Roden M; Rudan I; Rybin D; Scott LJ; Sigurdsson G; Sladek R; Thorleifsson G; Thorsteinsdottir U; Tuomilehto J; Uitterlinden AG; Vivequin S; Weedon MN; Wright AF; MAGIC Consortium; DIAGRAM Consortium; GIANT Consortium; Hu FB; Illig T; Kao L; Meigs JB; Wilson JF; Stefansson K; van Duijn C; Altschuler D; Morris AD; Boehnke M; McCarthy MI; Froguel P; Palmer CN; Wareham NJ; Groop L; Frayling TM; Cauchi S (2012)
      Common diseases such as type 2 diabetes are phenotypically heterogeneous. Obesity is a major risk factor for type 2 diabetes, but patients vary appreciably in body mass index. We hypothesized that the genetic predisposition ...
    • Structural Consistency of the Pain Sensitivity Questionnaire in the Cooperative Health Research In South Tyrol (CHRIS) Population-Based Study 

      Melotti R; Ruscheweyh R; Pramstaller PP; Hicks AA; Pattaro C (2018)
      The self-reported Pain Sensitivity Questionnaire (PSQ) is a valid supplement to experimental pain testing. However, the latent constructs determining the originally proposed 1 general score (PSQ-total) and 2 subscores ...
    • Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease 

      Reetz K; Gaser C; Klein C; Hagenah J; Büchel C; Gottschalk S; Pramstaller PP; Siebner HR; Binkofski F (2009)
      A bilateral compensatory increase of basal ganglia (BG) gray matter value (GMV) was recently demonstrated in asymptomatic Parkin mutation carriers, who likely have an increased risk to develop Parkinson's disease (PD). We ...
    • Structural imaging in the presymptomatic stage of genetically determined parkinsonism 

      Reetz K; Tadic V; Kasten M; Brüggemann N; Schmidt A; Hagenah J; Pramstaller PP; Ramirez A; Behrens MI; Siebner HR; Klein C; Binkofski F (2010)
      Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic ...
    • Structure of a novel winged-helix like domain from human NFRKB protein 

      Kumar A; Möcklinghoff S; Yumoto F; Jaroszewski L; Farr CL; Grzechnik A; Nguyen P; Weichenberger CX; Chiu HJ; Klock HE; Elsliger MA; Deacon AM; Godzik A; Lesley SA; Conklin BR; Fletterick RJ; Wilson IA (2012)
      The human nuclear factor related to kappa-B-binding protein (NFRKB) is a 1299-residue protein that is a component of the metazoan INO80 complex involved in chromatin remodeling, transcription regulation, DNA replication ...
    • Study protocol: the empirical investigation of methods to correct for measurement error in biobanks with dietary assessment 

      Bennett DA; Little J; Masson LF; Minelli C (2011)
      BACKGROUND: The Public Population Project in Genomics (P3G) is an organisation that aims to promote collaboration between researchers in the field of population-based genomics. The main objectives of P3G are to encourage ...
    • Subchronic Exposure to Titanium Dioxide Nanoparticles Modifies Cardiac Structure and Performance in Spontaneously Hypertensive Rats 

      Rossi S; Savi M; Mazzola M; Pinelli S; Alinovi R; Gennaccaro L; Pagliaro A; Meraviglia V; Galetti M; Lozano-Garcia O; Rossini A; Frati C; Falco A; Quaini F; Bocchi L; Stilli D; Lucas S; Goldoni M; Macchi E; Mutti A; Miragoli M (2019)
      BACKGROUND: Non-communicable diseases, intended as the results of a combination of inherited, environmental and biological factors, kill 40 million people each year, equivalent to roughly 70% of all premature deaths ...
    • Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles 

      Hagenah JM; König IR; Becker B; Hilker R; Kasten M; Hedrich K; Pramstaller PP; Klein C; Seidel G (2007)
      To further evaluate (1) transcranial sonography (TCS) for (pre)clinical diagnosis of Parkinson's disease (PD) and (2) to examine asymptomatic carriers of Parkin mutations we investigated substantia nigra (SN) hyperechogenicity ...
    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink D; Plazzi G; Vetrugno R; Provini F; Polo O; Stiasny-Kolster K; Oertel W; Nevsimalova S; Sonka K; Högl B; Frauscher B; Hadjigeorgiou GM; Pramstaller PP; Lichtner P; Meitinger T; Müller-Myshok B; Winkelmann J; Montagna P (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...
    • Syngeneic Cardiac and Bone Marrow Stromal Cells Display Tissue-Specific microRNA Signatures and microRNA Subsets Restricted to Diverse Differentiation Processes 

      Meraviglia V; Azzimato V; Piacentini L; Chiesa M; Kesharwani RK; Frati C; Capogrossi MC; Gaetano C; Pompilio G; Colombo GI; Rossini A (2014)
      MicroRNAs are key modulators at molecular level in different biological processes, including determination of cell fate and differentiation. Herein, microRNA expression profiling experiments were performed on syngeneic ...
    • Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies 

      Meder B; Haas J; Keller A; Heid C; Just S; Borries A; Boisguerin V; Scharfenberger-Schmeer M; Stähler P; Beier M; Weichenhan D; Strom TM; Pfeufer A; Korn B; Katus HA; Rottbauer W (2011)
      BACKGROUND: Today, mutations in more than 30 different genes have been found to cause inherited cardiomyopathies, some associated with very poor prognosis. However, because of the genetic heterogeneity and limitations in ...
    • Techniques, tools and best practices for ligand electron-density analysis and results from their application to deposited crystal structures 

      Pozharski E; Weichenberger CX; Rupp B (2013)
      As a result of substantial instrumental automation and the continuing improvement of software, crystallographic studies of biomolecules are conducted by non-experts in increasing numbers. While improved validation almost ...
    • Ten years of probabilistic estimates of biocrystal solvent content: new insights via nonparametric kernel density estimate 

      Weichenberger CX; Rupp B (2014)
      The probabilistic estimate of the solvent content (Matthews probability) was first introduced in 2003. Given that the Matthews probability is based on prior information, revisiting the empirical foundation of this widely ...
    • Topological analysis and interactive visualization of biological networks and protein structures 

      Doncheva NT; Assenov Y; Domingues FS; Albrecht M (2012)
      Computational analysis and interactive visualization of biological networks and protein structures are common tasks for gaining insight into biological processes. This protocol describes three workflows based on the ...
    • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis 

      Voight BF; Scott LJ; Steinthorsdottir V; Morris AP; Dina C; Welch RP; Zeggini E; Huth C; Aulchenko YS; Thorleifsson G; McCulloch LJ; Ferreira T; Grallert H; Amin N; Wu G; Willer CJ; Raychaudhuri S; McCarroll SA; Langenberg C; Hofmann OM; Dupuis J; Qi L; Segrè AV; van Hoek M; Navarro P; Ardlie K; Balkau B; Benediktsson R; Bennett AJ; Blagieva R; Boerwinkle E; Bonnycastle LL; Bengtsson Boström K; Bravenboer B; Bumpstead S; Burtt NP; Charpentier G; Chines PS; Cornelis M; Couper DJ; Crawford G; Doney AS; Elliott KS; Elliott AL; Erdos MR; Fox CS; Franklin CS; Ganser M; Gieger C; Grarup N; Green T; Griffin S; Groves CJ; Guiducci C; Hadjadj S; Hassanali N; Herder C; Isomaa B; Jackson AU; Johnson PR; Jørgensen T; Kao WH; Klopp N; Kong A; Kraft P; Kuusisto J; Lauritzen T; Li M; Lieverse A; Lindgren CM; Lyssenko V; Marre M; Meitinger T; Midthjell K; Morken MA; Narisu N; Nilsson P; Owen KR; Payne F; Perry JR; Petersen AK; Platou C; Proença C; Prokopenko I; Rathmann W; Rayner NW; Robertson NR; Rocheleau G; Roden M; Sampson MJ; Saxena R; Shields BM; Shrader P; Sigurdsson G; Sparsø T; Strassburger K; Stringham HM; Sun Q; Swift AJ; Thorand B; Tichet J; Tuomi T; van Dam RM; van Haeften TW; van Herpt T; van Vliet-Ostaptchouk JV; Walters GB; Weedon MN; Wijmenga C; Witteman J; Bergman RN; Cauchi S; Collins FS; Gloyn AL; Gyllensten U; Hansen T; Hide WA; Hitman GA; Hofman A; Hunter DJ; Hveem K; Laakso M; Mohlke KL; Morris AD; Palmer CN; Pramstaller PP; Rudan I; Sijbrands E; Stein LD; Tuomilehto J; Uitterlinden A; Walker M; Wareham NJ; Watanabe RM; Abecasis GR; Boehm BO; Campbell H; Daly MJ; Hattersley AT; Hu FB; Meigs JB; Pankow JS; Pedersen O; Wichmann HE; Barroso I; Florez JC; Frayling TM; Groop L; Sladek R; Thorsteinsdottir U; Wilson JF; Illig T; Froguel P; van Duijn CM; Stefansson K; Altshuler D; Boehnke M; McCarthy MI; MAGIC Investigators; GIANT Consortium (2010)
      By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases ...
    • The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease 

      Devuyst O; Pattaro C (2018)
      The identification of genetic factors associated with kidney disease has the potential to provide critical insights into disease mechanisms. Genome-wide association studies have uncovered genomic regions associated with ...
    • Unbiased metabolomic investigation of Alzheimer’s disease brain points to dysregulation of mitochondrial aspartate metabolism 

      Paglia G; Stocchero M; Cacciatore S; Lai S; Angel P; Alam MT; Keller M; Ralser M; Astarita G (2016)
      Alzheimer's disease (AD) is the most common cause of adult dementia. Yet the complete set of molecular changes accompanying this inexorable, neurodegenerative disease remains elusive. Here we adopted an unbiased lipidomics ...
    • Validated SNPs for eGFR and their associations with albuminuria 

      Ellis JW; Chen MH; Foster MC; Liu CT; Larson MG; de Boer I; Köttgen A; Parsa A; Bochud M; Böger CA; Kao L; Fox CS; O'Seaghdha CM; CKDGen Consortium; CARe Renal Consortium (2012)
      Albuminuria and reduced glomerular filtration rate are manifestations of chronic kidney disease (CKD) that predict end-stage renal disease, acute kidney injury, cardiovascular disease and death. We hypothesized that SNPs ...
    • Validity and reliability of serological immunophenotyping of multiple blood group systems by ORTHO™ Sera with fully automated procedure 

      Salvadori U; Melotti R; L'Altrella D; Daves M; Al-Khaffaf A; Milizia L; Putzulu R; Filippi R; Carolo A; Lippi G; Gentilini I (2018)
      The increase of immunization against blood group antigens has reinforced the need for automated extensive blood typing. The aim of this study was to assess both the validity and reliability of red blood cell (RBC) automated ...
    • Variants in STAT5B associate with serum TC and LDL-C levels 

      Kornfeld JW; Isaacs A; Vitart V; Pospisilik JA; Meitinger T; Gyllensten U; Wilson JF; Rudan I; Campbell H; Penninger JM; Sexl V; Moriggl R; van Duijn C; Pramstaller PP; Hicks AA (2011)
      CONTEXT: Known genetic variants influencing serum lipid levels do not adequately account for the observed population variability of these phenotypes. The GH/signal transducers and activators of transcription (STAT) signaling ...