Now showing items 44-63 of 425

    • CADPS2 gene expression is oppositely regulated by LRRK2 and alpha-synuclein 

      Obergasteiger J; Überbacher C; Pramstaller PP; Hicks AA; Corti C; Volta M (2017)
      The Ca2+-dependent activator protein for secretion 2 (CADPS2) is a member of the CAPS/CADPS protein family that plays crucial roles in synaptic vesicle dynamics. Genomic variability in the CADPS2 gene has been associated ...
    • CARD8 and NLRP1 undergo autoproteolytic processing through a ZU5-like domain 

      D'Osualdo A; Weichenberger CX; Wagner RN; Godzik A; Wooley J; Reed JC (2011)
      The "Function to Find Domain" (FIIND)-containing proteins CARD8 (Cardinal; Tucan) and NLRP1 (NALP1; NAC) are well known components of inflammasomes, multiprotein complexes responsible for activation of caspase-1, a regulator ...
    • Cardiac index and oxygen delivery during low and high tidal volume ventilation strategies in patients with acute respiratory distress syndrome: a crossover randomized clinical trial 

      Natalini G; Minelli C; Rosano A; Ferretti P; Militano CR; De Feo C; Bernardini A (2013)
      INTRODUCTION: The beneficial effect of low tidal volume (TV) ventilation strategy on mortality in patients with acute respiratory distress syndrome (ARDS) has been attributed to the protective effect on ventilator-induced ...
    • Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy 

      Sommariva E; Brambilla S; Carbucicchio C; Gambini E; Meraviglia V; Dello Russo A; Farina FM; Casella M; Catto V; Pontone G; Chiesa M; Stadiotti I; Cogliati E; Paolin A; Ouali Alami N; Preziuso C; d'Amati G; Colombo GI; Rossini A; Capogrossi MC; Tondo C; Pompilio G (2015)
      AIM: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder mainly due to mutations in desmosomal genes, characterized by progressive fibro-adipose replacement of the myocardium, arrhythmias, and sudden death. It is ...
    • Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts 

      Vimaleswaran KS; Berry DJ; Lu C; Tikkanen E; Pilz S; Hiraki LT; Cooper JD; Dastani Z; Li R; Houston DK; Wood AR; Michaëlsson K; Vandenput L; Zgaga L; Yerges-Armstrong LM; McCarthy MI; Dupuis J; Kaakinen M; Kleber ME; Jameson K; Arden N; Raitakari O; Viikari J; Lohman KK; Ferrucci L; Melhus H; Ingelsson E; Byberg L; Lind L; Lorentzon M; Salomaa V; Campbell H; Dunlop M; Mitchell BD; Herzig KH; Pouta A; Hartikainen AL; Genetic Investigation of Anthropometric Traits-GIANT Consortium; Streeten EA; Theodoratou E; Jula A; Wareham NJ; Ohlsson C; Frayling TM; Kritchevsky SB; Spector TD; Richards JB; Lehtimäki T; Ouwehand WH; Kraft P; Cooper C; März W; Power C; Loos RJ; Wang TJ; Järvelin MR; Whittaker JC; Hingorani AD; Hyppönen E (2013)
      BACKGROUND: Obesity is associated with vitamin D deficiency, and both are areas of active public health concern. We explored the causality and direction of the relationship between body mass index (BMI) and 25-hydroxyvitamin ...
    • Cephalalgiaphobia as a feature of high-frequency migraine: a pilot study 

      Giannini G; Zanigni S; Grimaldi D; Melotti R; Pierangeli G; Cortelli P; Cevoli S (2013)
      BACKGROUND: Cephalalgiaphobia is the fear of having a headache attack during a pain-free period that may induce patients to use analgesic in the absence of pain to prevent headache and to improve their performances. This ...
    • The challenges of the expanded availability of genomic information: an agenda-setting paper 

      Borry P; Bentzen HB; Budin-Ljøsne I; Cornel MC; Howard HC; Feeney O; Jackson L; Mascalzoni D; Mendes Á; Peterlin B; Riso B; Shabani M; Skirton H; Sterckx S; Vears D; Wjst M; Felzmann H (2017)
      Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized ...
    • Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates 

      Wei W; Hemani G; Hicks AA; Vitart V; Cabrera-Cardenas C; Navarro P; Huffman J; Hayward C; Knott SA; Rudan I; Pramstaller PP; Wild SH; Wilson JF; Campbell H; Dunlop MG; Hastie N; Wright AF; Haley CS (2011)
      Genome-wide association (GWA) studies have identified a number of loci underlying variation in human serum uric acid (SUA) levels with the SLC2A9 gene having the largest effect identified so far. Gene-gene interactions ...
    • Characterization, chemometric evaluation, and human health-related aspects of essential and toxic elements in Italian honey samples by inductively coupled plasma mass spectrometry 

      Quinto M; Miedico O; Spadaccino G; Paglia G; Mangiacotti M; Li D; Centonze D; Chiaravalle AE (2016)
      Concentration values of 24 elements (Al, As, Ba, Be, Ca, Cd, Co, Cr, Cu, Fe, Ge, Hg, Mn, Mo, Pb, Sb, Se, Sn, Sr, Ti, Tl, U, V, and Zn) were determined in 72 honey samples produced in Italy by inductively coupled plasma ...
    • The chromosome 9p21 region and myocardial infarction in a European population 

      Koch W; Türk S; Erl A; Hoppmann P; Pfeufer A; King L; Schömig A; Kastrati A (2011)
      OBJECTIVE: Sequence variation at Ch9p21 is a predisposing genetic factor for a number of diseases, including myocardial infarction (MI) and diabetes. We determined the risk of MI associated with various alleles and ...
    • Circadian gene variants and susceptibility to type 2 diabetes: a pilot study 

      Kelly MA; Rees SD; Hydrie MZ; Shera AS; Bellary S; O'Hare JP; Kumar S; Taheri S; Basit A; Barnett AH; DIAGRAM Consortium; SAT2D Consortium (2012)
      BACKGROUND: Disruption of endogenous circadian rhythms has been shown to increase the risk of developing type 2 diabetes, suggesting that circadian genes might play a role in determining disease susceptibility. We present ...
    • Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals 

      Heid IM; Henneman P; Hicks A; Coassin S; Winkler T; Aulchenko YS; Fuchsberger C; Song K; Hivert MF; Waterworth DM; Timpson NJ; Richards JB; Perry JR; Tanaka T; Amin N; Kollerits B; Pichler I; Oostra BA; Thorand B; Frants RR; Illig T; Dupuis J; Glaser B; Spector T; Guralnik J; Egan JM; Florez JC; Evans DM; Soranzo N; Bandinelli S; Carlson OD; Frayling TM; Burling K; Smith GD; Mooser V; Ferrucci L; Meigs JB; Vollenweider P; Dijk KW; Pramstaller P; Kronenberg F; van Duijn CM (2010)
      OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We ...
    • Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation 

      Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C (2004)
      Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of ...
    • Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG) 

      Trenkwalder C; Kohnen R; Allen RP; Benes H; Ferini-Strambi L; Garcia-Borreguero D; Hadjigeorgiou GM; Happe S; Högl B; Hornyak M; Klein C; Nass A; Montagna P; Oertel WH; O'Keeffe S; Paulus W; Poewe W; Provini F; Pramstaller PP; Sieminski M; Sonka K; Stiasny-Kolster K; de Weerd A; Wetter TC; Winkelmann J; Zucconi M (2007)
      The European Restless Legs Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement ...
    • CLOCK gene variants associate with sleep duration in two independent populations 

      Allebrandt KV; Teder-Laving M; Akyol M; Pichler I; Müller-Myhsok B; Pramstaller P; Merrow M; Meitinger T; Metspalu A; Roenneberg T (2010)
      BACKGROUND: Sleep is an active and complex behavior, yet it has two straightforward properties-timing and duration. Clock genes are associated with dysfunctional timing of sleep, mood, and obesity disorders, which are ...
    • Co-occurrence of restless legs syndrome and Parkin mutations in two families 

      Adel S; Djarmati A; Kabakci K; Pichler I; Eskelson C; Lohnau T; Kock N; Hagenah J; Hedrich K; Schwinger E; Kramer PL; Pramstaller PP; Klein C (2006)
      Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 ...
    • Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes 

      Roberts JM; Mascalzoni D; Ness RB; Poston L; Global Pregnancy Collaboration (2016)
    • Combination of mouse models and genomewide association studies highlights novel genes associated with human kidney function 

      Jing J; Pattaro C; Hoppmann A; Okada Y; CKDGen Consortium; Fox CS; Köttgen A (2016)
      Genomewide association studies have identified numerous chronic kidney disease-associated genetic variants, but often do not pinpoint causal genes. This limitation was addressed by combining Mouse Genome Informatics ...
    • Common variants associated with plasma triglycerides and risk for coronary artery disease 

      Do R; Willer CJ; Schmidt EM; Sengupta S; Gao C; Peloso GM; Gustafsson S; Kanoni S; Ganna A; Chen J; Buchkovich ML; Mora S; Beckmann JS; Bragg-Gresham JL; Chang HY; Demirkan A; Den Hertog HM; Donnelly LA; Ehret GB; Esko T; Feitosa MF; Ferreira T; Fischer K; Fontanillas P; Fraser RM; Freitag DF; Gurdasani D; Heikkilä K; Hyppönen E; Isaacs A; Jackson AU; Johansson A; Johnson T; Kaakinen M; Kettunen J; Kleber ME; Li X; Luan J; Lyytikäinen LP; Magnusson PK; Mangino M; Mihailov E; Montasser ME; Müller-Nurasyid M; Nolte IM; O'Connell JR; Palmer CD; Perola M; Petersen AK; Sanna S; Saxena R; Service SK; Shah S; Shungin D; Sidore C; Song C; Strawbridge RJ; Surakka I; Tanaka T; Teslovich TM; Thorleifsson G; Van den Herik EG; Voight BF; Volcik KA; Waite LL; Wong A; Wu Y; Zhang W; Absher D; Asiki G; Barroso I; Been LF; Bolton JL; Bonnycastle LL; Brambilla P; Burnett MS; Cesana G; Dimitriou M; Doney AS; Döring A; Elliott P; Epstein SE; Eyjolfsson GI; Gigante B; Goodarzi MO; Grallert H; Gravito ML; Groves CJ; Hallmans G; Hartikainen AL; Hayward C; Hernandez D; Hicks AA; Holm H; Hung YJ; Illig T; Jones MR; Kaleebu P; Kastelein JJ; Khaw KT; Kim E; Klopp N; Komulainen P; Kumari M; Langenberg C; Lehtimäki T; Lin SY; Lindström J; Loos RJ; Mach F; McArdle WL; Meisinger C; Mitchell BD; Müller G; Nagaraja R; Narisu N; Nieminen TV; Nsubuga RN; Olafsson I; Ong KK; Palotie A; Papamarkou T; Pomilla C; Pouta A; Rader DJ; Reilly MP; Ridker PM; Rivadeneira F; Rudan I; Ruokonen A; Samani N; Scharnagl H; Seeley J; Silander K; Stancáková A; Stirrups K; Swift AJ; Tiret L; Uitterlinden AG; van Pelt LJ; Vedantam S; Wainwright N; Wijmenga C; Wild SH; Willemsen G; Wilsgaard T; Wilson JF; Young EH; Zhao JH; Adair LS; Arveiler D; Assimes TL; Bandinelli S; Bennett F; Bochud M; Boehm BO; Boomsma DI; Borecki IB; Bornstein SR; Bovet P; Burnier M; Campbell H; Chakravarti A; Chambers JC; Chen YD; Collins FS; Cooper RS; Danesh J; Dedoussis G; de Faire U; Feranil AB; Ferrières J; Ferrucci L; Freimer NB; Gieger C; Groop LC; Gudnason V; Gyllensten U; Hamsten A; Harris TB; Hingorani A; Hirschhorn JN; Hofman A; Hovingh GK; Hsiung CA; Humphries SE; Hunt SC; Hveem K; Iribarren C; Järvelin MR; Jula A; Kähönen M; Kaprio J; Kesäniemi A; Kivimaki M; Kooner JS; Koudstaal PJ; Krauss RM; Kuh D; Kuusisto J; Kyvik KO; Laakso M; Lakka TA; Lind L; Lindgren CM; Martin NG; März W; McCarthy MI; McKenzie CA; Meneton P; Metspalu A; Moilanen L; Morris AD; Munroe PB; Njølstad I; Pedersen NL; Power C; Pramstaller PP; Price JF; Psaty BM; Quertermous T; Rauramaa R; Saleheen D; Salomaa V; Sanghera DK; Saramies J; Schwarz PE; Sheu WH; Shuldiner AR; Siegbahn A; Spector TD; Stefansson K; Strachan DP; Tayo BO; Tremoli E; Tuomilehto J; Uusitupa M; van Duijn CM; Vollenweider P; Wallentin L; Wareham NJ; Whitfield JB; Wolffenbuttel BH; Altshuler D; Ordovas JM; Boerwinkle E; Palmer CN; Thorsteinsdottir U; Chasman DI; Rotter JI; Franks PW; Ripatti S; Cupples LA; Sandhu MS; Rich SS; Boehnke M; Deloukas P; Mohlke KL; Ingelsson E; Abecasis GR; Daly MJ; Neale BM; Kathiresan S (2013)
      Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is ...
    • Common variants at ten loci modulate the QT interval duration in the QTSCD Study 

      Pfeufer A; Sanna S; Arking DE; Müller M; Gateva V; Fuchsberger C; Ehret GB; Orrú M; Pattaro C; Köttgen A; Perz S; Usala G; Barbalic M; Li M; Pütz B; Scuteri A; Prineas RJ; Sinner MF; Gieger C; Najjar SS; Kao WH; Mühleisen TW; Dei M; Happle C; Möhlenkamp S; Crisponi L; Erbel R; Jöckel KH; Naitza S; Steinbeck G; Marroni F; Hicks AA; Lakatta E; Müller-Myhsok B; Pramstaller PP; Wichmann HE; Schlessinger D; Boerwinkle E; Meitinger T; Uda M; Coresh J; Kääb S; Abecasis GR; Chakravarti A (2009)
      The QT interval, a measure of cardiac repolarization, predisposes to ventricular arrhythmias and sudden cardiac death (SCD) when prolonged or shortened. A common variant in NOS1AP is known to influence repolarization. We ...