Now showing items 394-413 of 424

    • SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila 

      Zanon A; Kalvakuri S; Rakovic A; Foco L; Guida M; Schwienbacher C; Serafin A; Rudolph F; Trilck M; Grünewald A; Stanslowsky N; Wegner F; Giorgio V; Lavdas AA; Bodmer R; Pramstaller PP; Klein C; Hicks AA; Pichler I; Seibler P (2017)
      Mutations in the Parkin gene (PARK2) have been linked to a recessive form of Parkinson's disease (PD) characterized by the loss of dopaminergic neurons in the substantia nigra. Deficiencies of mitochondrial respiratory ...
    • SLP-2: a potential new target for improving mitochondrial function in Parkinson's disease 

      Zanon A; Hicks AA; Pramstaller PP; Pichler I (2017)
      Genome-editing technology has emerged as a powerful method that enables the generation of genetically modified cells and organisms necessary to elucidate gene function and mechanisms of human diseases. The clustered regularly ...
    • SNP prioritization using a Bayesian probability of association 

      Thompson JR; Gögele M; Weichenberger CX; Modenese M; Attia J; Barrett JH; Boehnke M; De Grandi A; Domingues FS; Hicks AA; Marroni F; Pattaro C; Ruggeri F; Borsani G; Casari G; Parmigiani G; Pastore A; Pfeufer A; Schwienbacher C; Taliun D; Consortium C; Fox CS; Pramstaller PP; Minelli C (2013)
      Prioritization is the process whereby a set of possible candidate genes or SNPs is ranked so that the most promising can be taken forward into further studies. In a genome-wide association study, prioritization is usually ...
    • SNP-based linkage analysis in extended pedigrees: comparison between two alternative approaches 

      Saint-Pierre A; D'Elia Y; Ciullo M; Pramstaller PP; Pattaro C (2014)
      BACKGROUND: Linkage analysis on extended pedigrees is often challenged by the high computational demand of exact identity-by-descent (IBD) matrix reconstruction. When such an analysis becomes not feasible, two alternative ...
    • SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation 

      Meraviglia V; Ulivi AF; Boccazzi M; Valenza F; Fratangeli A; Passafaro M; Lecca D; Stagni F; Giacomini A; Bartesaghi R; Abbracchio MP; Ceruti S; Rosa P (2016)
      The G protein-coupled receptor 17 (GPR17) plays crucial roles in myelination. It is highly expressed during transition of oligodendrocyte progenitor cells to immature oligodendrocytes, but, after this stage, it must be ...
    • The solvent component of macromolecular crystals 

      Weichenberger CX; Afonine PV; Kantardjieff K; Rupp B (2015)
      The mother liquor from which a biomolecular crystal is grown will contain water, buffer molecules, native ligands and cofactors, crystallization precipitants and additives, various metal ions, and often small-molecule ...
    • SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function 

      Li M; Li Y; Weeks O; Mijatovic V; Teumer A; Huffman JE; Tromp G; Fuchsberger C; Gorski M; Lyytikäinen LP; Nutile T; Sedaghat S; Sorice R; Tin A; Yang Q; Ahluwalia TS; Arking DE; Bihlmeyer NA; Böger CA; Carroll RJ; Chasman DI; Cornelis MC; Dehghan A; Faul JD; Feitosa MF; Gambaro G; Gasparini P; Giulianini F; Heid I; Huang J; Imboden M; Jackson AU; Jeff J; Jhun MA; Katz R; Kifley A; Kilpeläinen TO; Kumar A; Laakso M; Li-Gao R; Lohman K; Lu Y; Mägi R; Malerba G; Mihailov E; Mohlke KL; Mook-Kanamori DO; Robino A; Ruderfer D; Salvi E; Schick UM; Schulz CA; Smith AV; Smith JA; Traglia M; Yerges-Armstrong LM; Zhao W; Goodarzi MO; Kraja AT; Liu C; Boerwinkle E; Borecki IB; Bork-Jensen J; Bottinger EP; Braga D; Brandslund I; Brody JA; Campbell A; Carey DJ; Christensen C; Coresh J; Crook E; Curhan GC; Cusi D; de Boer IH; de Vries AP; Denny JC; Devuyst O; Dreisbach AW; Endlich K; Esko T; Franco OH; Fulop T; Gerhard GS; Glümer C; Gottesman O; Grarup N; Gudnason V; Hansen T; Harris TB; Hayward C; Hocking L; Hofman A; Hu FB; Husemoen LL; Jackson RD; Jørgensen T; Jørgensen ME; Kähönen M; Kardia SL; König W; Kooperberg C; Kriebel J; Launer LJ; Lauritzen T; Lehtimäki T; Levy D; Linksted P; Linneberg A; Liu Y; Loos RJ; Lupo A; Meisinger C; Melander O; Metspalu A; Mitchell P; Nauck M; Nürnberg P; Orho-Melander M; Parsa A; Pedersen O; Peters A; Peters U; Polasek O; Porteous D; Probst-Hensch NM; Psaty BM; Qi L; Raitakari OT; Reiner AP; Rettig R; Ridker PM; Rivadeneira F; Rossouw JE; Schmidt F; Siscovick D; Soranzo N; Strauch K; Toniolo D; Turner ST; Uitterlinden AG; Ulivi S; Velayutham D; Völker U; Völzke H; Waldenberger M; Wang JJ; Weir DR; Witte D; Kuivaniemi H; Fox CS; Franceschini N; Goessling W; Köttgen A; Chu AY; Wessel J (2017)
      Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations ...
    • 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 ...