Now showing items 285-304 of 425

    • Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes 

      Ng MC; Shriner D; Chen BH; Li J; Chen WM; Guo X; Liu J; Bielinski SJ; Yanek LR; Nalls MA; Comeau ME; Rasmussen-Torvik LJ; Jensen RA; Evans DS; Sun YV; An P; Patel SR; Lu Y; Long J; Armstrong LL; Wagenknecht L; Yang L; Snively BM; Palmer ND; Mudgal P; Langefeld CD; Keene KL; Freedman BI; Mychaleckyj JC; Nayak U; Raffel LJ; Goodarzi MO; Chen YD; Taylor HA; Correa A; Sims M; Couper D (2014)
      Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by ...
    • A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level 

      Pattaro C; De Grandi A; Vitart V; Hayward C; Franke A; Aulchenko YS; Johansson A; Wild SH; Melville SA; Isaacs A; Polasek O; Ellinghaus D; Kolcic I; Nöthlings U; Zgaga L; Zemunik T; Gnewuch C; Schreiber S; Campbell S; Hastie N; Boban M; Meitinger T; Oostra BA; Riegler P; Minelli C; Wright AF; Campbell H; van Duijn CM; Gyllensten U; Wilson JF; Krawczak M; Rudan I; Pramstaller PP; EUROSPAN Consortium (2010)
      BACKGROUND: Serum creatinine (S CR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in ...
    • Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2 

      Pankratz N; Beecham GW; DeStefano AL; Dawson TM; Doheny KF; Factor SA; Hamza TH; Hung AY; Hyman BT; Ivinson AJ; Krainc D; Latourelle JC; Clark LN; Marder K; Martin ER; Mayeux R; Ross OA; Scherzer CR; Simon DK; Tanner C; Vance JM; Wszolek ZK; Zabetian CP; Myers RH; Payami H; Scott WK; Foroud T; PD GWAS Consortium (2012)
      OBJECTIVE: Genome-wide association (GWAS) methods have identified genes contributing to Parkinson's disease (PD); we sought to identify additional genes associated with PD susceptibility. METHODS: A 2-stage design was ...
    • A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function 

      Porcu E; Medici M; Pistis G; Volpato CB; Wilson SG; Cappola AR; Bos SD; Deelen J; den Heijer M; Freathy RM; Lahti J; Liu C; Lopez LM; Nolte IM; O'Connell JR; Tanaka T; Trompet S; Arnold A; Bandinelli S; Beekman M; Böhringer S; Brown SJ; Buckley BM; Camaschella C; de Craen AJ; Davies G; de Visser MC; Ford I; Forsen T; Frayling TM; Fugazzola L; Gögele M; Hattersley AT; Hermus AR; Hofman A; Houwing-Duistermaat JJ; Jensen RA; Kajantie E; Kloppenburg M; Lim EM; Masciullo C; Mariotti S; Minelli C; Mitchell BD; Nagaraja R; Netea-Maier RT; Palotie A; Persani L; Piras MG; Psaty BM; Räikkönen K; Richards JB; Rivadeneira F; Sala C; Sabra MM; Sattar N; Shields BM; Soranzo N; Starr JM; Stott DJ; Sweep FC; Usala G; van der Klauw MM; van Heemst D; van Mullem A; Vermeulen SH; Visser WE; Walsh JP; Westendorp RG; Widen E; Zhai G; Cucca F; Deary IJ; Eriksson JG; Ferrucci L; Fox CS; Jukema JW; Kiemeney LA; Pramstaller PP; Schlessinger D; Shuldiner AR; Slagboom EP; Uitterlinden AG; Vaidya B; Visser TJ; Wolffenbuttel BH; Meulenbelt I; Rotter JI; Spector TD; Hicks AA; Toniolo D; Sanna S; Peeters RP; Naitza S (2013)
      Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, ...
    • The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits 

      Voight BF; Kang HM; Ding J; Palmer CD; Sidore C; Chines PS; Burtt NP; Fuchsberger C; Li Y; Erdmann J; Frayling TM; Heid IM; Jackson AU; Johnson T; Kilpeläinen TO; Lindgren CM; Morris AP; Prokopenko I; Randall JC; Saxena R; Soranzo N; Speliotes EK; Teslovich TM; Wheeler E; Maguire J; Parkin M; Potter S; Rayner NW; Robertson N; Stirrups K; Winckler W; Sanna S; Mulas A; Nagaraja R; Cucca F; Barroso I; Deloukas P; Loos RJ; Kathiresan S; Munroe PB; Newton-Cheh C; Pfeufer A; Samani NJ; Schunkert H; Hirschhorn JN; Altshuler D; McCarthy MI; Abecasis GR; Boehnke M (2012)
      Genome-wide association studies have identified hundreds of loci for type 2 diabetes, coronary artery disease and myocardial infarction, as well as for related traits such as body mass index, glucose and insulin levels, ...
    • Metabolic fate of adenine in red blood cells during storage in SAGM solution 

      Paglia G; Sigurjónsson ÓE; Bordbar A; Rolfsson Ó; Magnusdottir M; Palsson S; Wichuk K; Gudmundsson S; Palsson BO (2016)
      BACKGROUND: Red blood cells (RBCs) are routinely stored and transfused worldwide. Recently, metabolomics have shown that RBCs experience a three-phase metabolic decay process during storage, resulting in the definition ...
    • Metabolic Profiling as a Screening Tool for Cytotoxic Compounds: Identification of 3-Alkyl Pyridine Alkaloids from Sponges Collected at a Shallow Water Hydrothermal Vent Site North of Iceland 

      Einarsdottir E; Magnusdottir M; Astarita G; Köck M; Ögmundsdottir HM; Thorsteinsdottir M; Rapp HT; Omarsdottir S; Paglia G (2017)
      Twenty-eight sponge specimens were collected at a shallow water hydrothermal vent site north of Iceland. Extracts were prepared and tested in vitro for cytotoxic activity, and eight of them were shown to be cytotoxic. A ...
    • Metabolic Signature of Dietary Iron Overload in a Mouse Model 

      Volani C; Paglia G; Smarason S; Pramstaller PP; Demetz E; Pfeifhofer-Obermair C; Weiss G (2018)
      Iron is an essential co-factor for several metabolic processes, including the Krebs cycle and mitochondrial oxidative phosphorylation. Therefore, maintaining an appropriate iron balance is essential to ensure sufficient ...
    • Metabolomics and lipidomics using travelling wave ion mobility mass spectrometry 

      Paglia G; Astarita G. (2017)
      Metabolomics and lipidomics aim to profile the wide range of metabolites and lipids that are present in biological samples. Recently, ion mobility spectrometry (IMS) has been used to support metabolomics and lipidomics ...
    • Methods for meta-analyses of genome-wide association studies: critical assessment of empirical evidence 

      Gögele M; Minelli C; Thakkinstian A; Yurkiewich A; Pattaro C; Pramstaller PP; Little J; Attia J; Thompson JR (2012)
      There has been a steep increase in the number of meta-analyses of genome-wide association (GWA) studies aimed at identifying genetic variants with increasingly smaller effects, but pressure to publish findings of new genetic ...
    • microRNAs and Cardiac Cell Fate 

      Piubelli C; Meraviglia V; Pompilio G; D'Alessandra Y; Colombo GI; Rossini A (2014)
      The role of small, non-coding microRNAs (miRNAs) has recently emerged as fundamental in the regulation of the physiology of the cardiovascular system. Several specific miRNAs were found to be expressed in embryonic, ...
    • Mining the human phenome using allelic scores that index biological intermediates 

      Evans DM; Brion MJ; Paternoster L; Kemp JP; McMahon G; Munafò M; Whitfield JB; Medland SE; Montgomery GW; GIANT Consortium; CRP Consortium; TAG Consortium; Timpson NJ; St Pourcain B; Lawlor DA; Martin NG; Dehghan A; Hirschhorn J; Davey Smith G (2013)
      It is common practice in genome-wide association studies (GWAS) to focus on the relationship between disease risk and genetic variants one marker at a time. When relevant genes are identified it is often possible to implicate ...
    • miR-22 and miR-29a Are Members of the Androgen Receptor Cistrome Modulating LAMC1 and Mcl-1 in Prostate Cancer 

      Pasqualini L; Bu H; Puhr M; Narisu N; Rainer J; Schlick B; Schäfer G; Angelova M; Trajanoski Z; Börno ST; Schweiger MR; Fuchsberger C; Klocker H (2015)
      The normal prostate as well as early stages and advanced prostate cancer (PCa) require a functional androgen receptor (AR) for growth and survival. The recent discovery of microRNAs (miRNAs) as novel effector molecules of ...
    • Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy 

      Monzio Compagnoni G; Kleiner G; Bordoni A; Fortunato F; Ronchi D; Salani S; Guida M; Corti C; Pichler I; Bergamini C; Fato R; Pellecchia MT; Vallelunga A; Del Sorbo F; Elia A; Reale C; Garavaglia B; Mora G; Albanese A; Cogiamanian F; Ardolino G; Bresolin N; Corti S; Comi GP; Quinzii CM; Di Fonzo A (2018)
      Multiple System Atrophy is a severe neurodegenerative disorder which is characterized by a variable clinical presentation and a broad neuropathological spectrum. The pathogenic mechanisms are almost completely unknown. In ...
    • Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels 

      Igl W; Johansson A; Wilson JF; Wild SH; Polasek O; Hayward C; Vitart V; Hastie N; Rudan P; Gnewuch C; Schmitz G; Meitinger T; Pramstaller PP; Hicks AA; Oostra BA; van Duijn CM; Rudan I; Wright A; Campbell H; Gyllensten U; EUROSPAN Consortium (2010)
      Genome-wide association studies (GWAS) have identified 38 larger genetic regions affecting classical blood lipid levels without adjusting for important environmental influences. We modeled diet and physical activity in a ...
    • Modeling Parkinson's disease in midbrain-like organoids 

      Smits LM; Reinhardt L; Reinhardt P; Glatza M; Monzel AS; Stanslowsky N; Rosato-Siri MD; Zanon A; Antony PM; Bellmann J; Nicklas SM; Hemmer K; Qing X; Berger E; Kalmbach N; Ehrlich M; Bolognin S; Hicks AA; Wegner F; Sterneckert JL; Schwamborn JC (2019)
      Modeling Parkinson's disease (PD) using advanced experimental in vitro models is a powerful tool to study disease mechanisms and to elucidate unexplored aspects of this neurodegenerative disorder. Here, we demonstrate that ...
    • Modulation of genetic associations with serum urate levels by body-mass-index in humans 

      Huffman JE; Albrecht E; Teumer A; Mangino M; Kapur K; Johnson T; Kutalik Z; Pirastu N; Pistis G; Lopez LM; Haller T; Salo P; Goel A; Li M; Tanaka T; Dehghan A; Ruggiero D; Malerba G; Smith AV; Nolte IM; Portas L; Phipps-Green A; Boteva L; Navarro P; Johansson A; Hicks AA; Polasek O; Esko T; Peden JF; Harris SE; Murgia F; Wild SH; Tenesa A; Tin A; Mihailov E; Grotevendt A; Gislason GK; Coresh J; D'Adamo P; Ulivi S; Vollenweider P; Waeber G; Campbell S; Kolcic I; Fisher K; Viigimaa M; Metter JE; Masciullo C; Trabetti E; Bombieri C; Sorice R; Döring A; Reischl E; Strauch K; Hofman A; Uitterlinden AG; Waldenberger M; Wichmann HE; Davies G; Gow AJ; Dalbeth N; Stamp L; Smit JH; Kirin M; Nagaraja R; Nauck M; Schurmann C; Budde K; Farrington SM; Theodoratou E; Jula A; Salomaa V; Sala C; Hengstenberg C; Burnier M; Mägi R; Klopp N; Kloiber S; Schipf S; Ripatti S; Cabras S; Soranzo N; Homuth G; Nutile T; Munroe PB; Hastie N; Campbell H; Rudan I; Cabrera C; Haley C; Franco OH; Merriman TR; Gudnason V; Pirastu M; Penninx BW; Snieder H; Metspalu A; Ciullo M; Pramstaller PP; van Duijn CM; Ferrucci L; Gambaro G; Deary IJ; Dunlop MG; Wilson JF; Gasparini P; Gyllensten U; Spector TD; Wright AF; Hayward C; Watkins H; Perola M; Bochud M; Kao WH; Caulfield M; Toniolo D; Völzke H; Gieger C; Köttgen A; Vitart V (2015)
      We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, ...
    • Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia 

      Binkofski F; Reetz K; Gaser C; Hilker R; Hagenah J; Hedrich K; van Eimeren T; Thiel A; Büchel C; Pramstaller PP; Siebner HR; Klein C (2007)
      BACKGROUND: Mutations in the Parkin and PINK1 genes can cause parkinsonism. Since asymptomatic carriers of a single mutant allele of the Parkin or PINK1 gene display a presynaptic dopaminergic dysfunction in the striatum, ...
    • Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism 

      Buhmann C; Binkofski F; Klein C; Büchel C; van Eimeren T; Erdmann C; Hedrich K; Kasten M; Hagenah J; Deuschl G; Pramstaller PP; Siebner HR (2005)
      Mutations in the Parkin gene are the most common known single cause of early-onset parkinsonism. It has been shown that asymptomatic carriers with a single mutant allele have latent presynaptic dopaminergic dysfunction in ...
    • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 

      Sharma M; Ioannidis JP; Aasly JO; Annesi G; Brice A; Bertram L; Bozi M; Barcikowska M; Crosiers D; Clarke CE; Facheris MF; Farrer M; Garraux G; Gispert S; Auburger G; Vilariño-Güell C; Hadjigeorgiou GM; Hicks AA; Hattori N; Jeon BS; Jamrozik Z; Krygowska-Wajs A; Lesage S; Lill CM; Lin JJ; Lynch T; Lichtner P; Lang AE; Libioulle C; Murata M; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Meitnger T; Zimprich A; Opala G; Pramstaller PP; Pichler I; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Satake W; Silburn PA; Strom TM; Theuns J; Tan EK; Toda T; Tomiyama H; Uitti RJ; Van Broeckhoven C; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yomono HS; Yueh KC; Zhao Y; Gasser T; Maraganore D; Krüger R; GEO-PD Consortium (2012)
      BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were ...