Now showing items 410-423 of 423

  • 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 ...
  • Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease 

    Facheris MF; Hicks AA; Minelli C; Hagenah JM; Kostic V; Campbell S; Hayward C; Volpato CB; Pattaro C; Vitart V; Wright A; Campbell H; Klein C; Pramstaller PP (2011)
    Based on the observed inverse association between hyperuricemia and Parkinson's disease (PD) risk, the natural antioxidant activity of uric acid has been suggested to play a protective role. SLC2A9 has been indicated as ...
  • Visualizing ligand molecules in Twilight electron density 

    Weichenberger CX; Pozharski E; Rupp B (2013)
    Three-dimensional models of protein structures determined by X-ray crystallography are based on the interpretation of experimentally derived electron-density maps. The real-space correlation coefficient (RSCC) provides an ...
  • A Web Resource for Levodopa-Induced Dyskinesia Genetics in Parkinson's Disease 

    Blankenburg H; Falla M; Schwienbacher C; Fabbrini G; Berardelli A; Pramstaller PP; Domingues FS (2017)
    Objective: Establish a web resource summarizing literature-based genetic information on levodopa-induced dyskinesia in an easily accessible and consistent way. Background: Levodopa induced dyskinesia (LID) is a very ...
  • 'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research. 

    McCormack P; Kole A; Gainotti S; Mascalzoni D; Molster C; Lochmüller H; Woods S (2016)
    Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the ...