Now showing items 244-263 of 447

    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study 

      Sun M; Latourelle JC; Wooten GF; Lew MF; Klein C; Shill HA; Golbe LI; Mark MH; Racette BA; Perlmutter JS; Parsian A; Guttman M; Nicholson G; Xu G; Wilk JB; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Suchowersky O; Labelle N; Growdon JH; Singer C; Watts RL; Goldwurm S; Pezzoli G; Baker KB; Pramstaller PP; Burn DJ; Chinnery PF; Sherman S; Vieregge P; Litvan I; Gillis T; MacDonald ME; Myers RH; Gusella JF (2006)
      BACKGROUND: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD). OBJECTIVE: To evaluate the influence of heterozygosity for parkin ...
    • Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers 

      Weissbach A; König IR; Hückelheim K; Pramstaller PP; Werner E; Brüggemann N; Tadic V; Lohmann K; Bäumer T; Münchau A; Kasten M; Klein C (2017)
      INTRODUCTION: A latent nigrostriatal deficit and its possible clinical consequences in asymptomatic heterozygous Parkin and PINK1 mutation carriers (AMC) have been a matter of investigation in recent years. Notably, mild ...
    • Informed consent in the genomics era 

      Mascalzoni D; Hicks A; Pramstaller P; Wjst M (2008)
    • Inherited cardiac arrhythmias: diagnosis, treatment, and prevention 

      Beckmann BM; Pfeufer A; Kääb S (2011)
      BACKGROUND: The incidence of sudden cardiac death in persons under age 40 is roughly 3 per 100 000 persons per year in Germany and North America. Many of these deaths are found to be due to hereditary heart diseases, often ...
    • Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior in LRRK2 G20195 knock-in mice 

      Volta M; Beccano-Kelly DA; Paschall SA; Cataldi S; MacIsaac SE; Kuhlmann N; Kadgien CA; Tatarnikov I; Fox J; Khinda J; Mitchell E; Bergeron S; Melrose H; Farrer MJ; Milnerwood AJ (2017)
      LRRK2 mutations produce end-stage Parkinson's disease (PD) with reduced nigrostriatal dopamine, whereas, asymptomatic carriers have increased dopamine turnover and altered brain connectivity. LRRK2 pathophysiology remains ...
    • Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function 

      Chasman DI; Fuchsberger C; Pattaro C; Teumer A; Böger CA; Endlich K; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa MF; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Lambert JC; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Coassin S; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu F; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Meisinger C; Gieger C; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki IB; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Parsa A; Bochud M; Heid IM; Kao WH; Fox CS; Köttgen A (2012)
      In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated ...
    • Integrative visual analysis of protein sequence mutations 

      Doncheva NT; Klein K; Morris JH; Wybrow M; Domingues FS; Albrecht M (2014)
      BACKGROUND: An important aspect of studying the relationship between protein sequence, structure and function is the molecular characterization of the effect of protein mutations. To understand the functional impact of ...
    • Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies 

      Nettleton JA; McKeown NM; Kanoni S; Lemaitre RN; Hivert MF; Ngwa J; van Rooij FJ; Sonestedt E; Wojczynski MK; Ye Z; Tanaka T; Garcia M; Anderson JS; Follis JL; Djousse L; Mukamal K; Papoutsakis C; Mozaffarian D; Zillikens MC; Bandinelli S; Bennett AJ; Borecki IB; Feitosa MF; Ferrucci L; Forouhi NG; Groves CJ; Hallmans G; Harris T; Hofman A; Houston DK; Hu FB; Johansson I; Kritchevsky SB; Langenberg C; Launer L; Liu Y; Loos RJ; Nalls M; Orho-Melander M; Renstrom F; Rice K; Riserus U; Rolandsson O; Rotter JI; Saylor G; Sijbrands EJ; Sjogren P; Smith A; Steingrímsdóttir L; Uitterlinden AG; Wareham NJ; Prokopenko I; Pankow JS; van Duijn CM; Florez JC; Witteman JC; MAGIC Investigators; Dupuis J; Dedoussis GV; Ordovas JM; Ingelsson E; Cupples L; Siscovick DS; Franks PW; Meigs JB (2010)
      OBJECTIVE: Whole-grain foods are touted for multiple health benefits, including enhancing insulin sensitivity and reducing type 2 diabetes risk. Recent genome-wide association studies (GWAS) have identified several single ...
    • Interactive effects of antioxidant genes and air pollution on respiratory function and airway disease: a HuGE review 

      Minelli C; Wei I; Sagoo G; Jarvis D; Shaheen S; Burney P (2011)
      Susceptibility to the respiratory effects of air pollution varies between individuals. Although some evidence suggests higher susceptibility for subjects carrying variants of antioxidant genes, findings from gene-pollution ...
    • International Charter of principles for sharing bio-specimens and data 

      Mascalzoni D; Dove ES; Rubinstein Y; Dawkins HJ; Kole A; McCormack P; Woods S; Riess O; Schaefer F; Lochmüller H; Knoppers BM; Hansson M (2015)
      There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term value and exploit their potential for health discovery and validation. ...
    • Involvement of proprotein convertase PCSK7 in the regulation of systemic iron homeostasis 

      Schwienbacher C; Serafin A; Zanon A; Pramstaller PP; Pichler I; Hicks AA (2013)
    • Isolation and marriage patterns in four South Tyrolean villages (Italy) during the nineteenth century 

      Riegler A; Marroni F; Pattaro C; Gueresi P; Pramstaller PP (2008)
      No information is currently available on the marriage patterns of German-speaking communities of the South Tyrol area. The aim of this study is to investigate the reproductive isolation of four South Tyrolean mountain ...
    • Jenti: an efficient tool for mining complex inbred genealogies 

      Falchi M; Fuchsberger C (2008)
      SUMMARY: An efficient tool for mining complex inbred genealogies that identify clusters of individuals sharing the same expected amount of relatedness is described. Additionally it allows for the reconstruction of ...
    • A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila 

      Allebrandt KV; Amin N; Müller-Myhsok B; Esko T; Teder-Laving M; Azevedo RV; Hayward C; van Mill J; Vogelzangs N; Green EW; Melville SA; Lichtner P; Wichmann HE; Oostra BA; Janssens AC; Campbell H; Wilson JF; Hicks AA; Pramstaller PP; Dogas Z; Rudan I; Merrow M; Penninx B; Kyriacou CP; Metspalu A; van Duijn CM; Meitinger T; Roenneberg T (2013)
      Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that the length ...
    • KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern 

      Teumer A; Trenkwalder T; Kessler T; Jamshidi Y; van den Berg ME; Kaess B; Nelson CP; Bastiaenen R; De Bortoli M; Rossini A; Deisenhofer I; Stark K; Assa S; Braund PS; Cabrera C; Dominiczak AF; Gögele M; Hall LM; Ikram MA; Kavousi M; Lackner KJ; Müller C; Münzel T; Nauck M; Padmanabhan S; Pfeiffer N; Spector TD; Uitterlinden AG; Verweij N; Völker U; Warren HR; Zafar M; Felix SB; Kors JA; Snieder H; Munroe PB; Pattaro C; Fuchsberger C; Schmidt G; Nolte IM; Schunkert H; Pramstaller P; Wild PS; van der Harst P; Stricker BH; Schnabel RB; Samani NJ; Hengstenberg C; Dörr M; Behr ER; Reinhard W (2019)
      BACKGROUND The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable ...
    • Ketoamide resistance and hepatitis C virus fitness in val55 variants of the NS3 serine protease 

      Welsch C; Schweizer S; Shimakami T; Domingues FS; Kim S; Lemon SM; Antes I (2012)
      Drug-resistant viral variants are a major issue in the use of direct-acting antiviral agents in chronic hepatitis C. Ketoamides are potent inhibitors of the NS3 protease, with V55A identified as mutation associated with ...
    • Lack of replication in polymorphisms reported to be associated with atrial fibrillation 

      Sinner MF; Lubitz SA; Pfeufer A; Makino S; Beckmann BM; Lunetta KL; Steinbeck G; Perz S; Rahman R; Sonni A; Greenberg SM; Furie KL; Wichmann HE; Meitinger T; Peters A; Benjamin EJ; Rosand J; Ellinor PT; Kääb S (2011)
      BACKGROUND: Atrial fibrillation (AF) is the most common sustained arrhythmia and has a substantial heritable component. Numerous associations between single nucleotide polymorphisms (SNPs) and AF have been described, but ...
    • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

      Wang L; Aasly JO; Annesi G; Bardien S; Bozi M; Brice A; Carr J; Chung SJ; Clarke C; Crosiers D; Deutschländer A; Eckstein G; Farrer MJ; Goldwurm S; Garraux G; Hadjigeorgiou GM; Hicks AA; Hattori N; Klein C; Jeon B; Kim YJ; Lesage S; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pihlstrøm L; Pramstaller PP; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Silburn PA; Theuns J; Tan EK; Tomiyama H; Toft M; Van Broeckhoven C; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; Zhao Y; Gasser T; Maraganore DM; Krüger R; Sharma M; GEO-PD Consortium (2015)
      OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the ...
    • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways 

      Scott RA; Lagou V; Welch RP; Wheeler E; Montasser ME; Luan J; Mägi R; Strawbridge RJ; Rehnberg E; Gustafsson S; Kanoni S; Rasmussen-Torvik LJ; Yengo L; Lecoeur C; Shungin D; Sanna S; Sidore C; Johnson PC; Jukema JW; Johnson T; Mahajan A; Verweij N; Thorleifsson G; Hottenga JJ; Shah S; Smith AV; Sennblad B; Gieger C; Salo P; Perola M; Timpson NJ; Evans DM; Pourcain BS; Wu Y; Andrews JS; Hui J; Bielak LF; Zhao W; Horikoshi M; Navarro P; Isaacs A; O'Connell JR; Stirrups K; Vitart V; Hayward C; Esko T; Mihailov E; Fraser RM; Fall T; Voight BF; Raychaudhuri S; Chen H; Lindgren CM; Morris AP; Rayner NW; Robertson N; Rybin D; Liu CT; Beckmann JS; Willems SM; Chines PS; Jackson AU; Kang HM; Stringham HM; Song K; Tanaka T; Peden JF; Goel A; Hicks AA; An P; Müller-Nurasyid M; Franco-Cereceda A; Folkersen L; Marullo L; Jansen H; Oldehinkel AJ; Bruinenberg M; Pankow JS; North KE; Forouhi NG; Loos RJ; Edkins S; Varga TV; Hallmans G; Oksa H; Antonella M; Nagaraja R; Trompet S; Ford I; Bakker SJ; Kong A; Kumari M; Gigante B; Herder C; Munroe PB; Caulfield M; Antti J; Mangino M; Small K; Miljkovic I; Liu Y; Atalay M; Kiess W; James AL; Rivadeneira F; Uitterlinden AG; Palmer CN; Doney AS; Willemsen G; Smit JH; Campbell S; Polasek O; Bonnycastle LL; Hercberg S; Dimitriou M; Bolton JL; Fowkes GR; Kovacs P; Lindström J; Zemunik T; Bandinelli S; Wild SH; Basart HV; Rathmann W; Grallert H; DIAGRAM Consortium; Maerz W; Kleber ME; Boehm BO; Peters A; Pramstaller PP; Province MA; Borecki IB; Hastie ND; Rudan I; Campbell H; Watkins H; Farrall M; Stumvoll M; Ferrucci L; Waterworth DM; Bergman RN; Collins FS; Tuomilehto J; Watanabe RM; de Geus EJ; Penninx BW; Hofman A; Oostra BA; Psaty BM; Vollenweider P; Wilson JF; Wright AF; Hovingh GK; Metspalu A; Uusitupa M; Magnusson PK; Kyvik KO; Kaprio J; Price JF; Dedoussis GV; Deloukas P; Meneton P; Lind L; Boehnke M; Shuldiner AR; van Duijn CM; Morris AD; Toenjes A; Peyser PA; Beilby JP; Körner A; Kuusisto J; Laakso M; Bornstein SR; Schwarz PE; Lakka TA; Rauramaa R; Adair LS; Smith GD; Spector TD; Illig T; de Faire U; Hamsten A; Gudnason V; Kivimaki M; Hingorani A; Keinanen-Kiukaanniemi SM; Saaristo TE; Boomsma DI; Stefansson K; van der Harst P; Dupuis J; Pedersen NL; Sattar N; Harris TB; Cucca F; Ripatti S; Salomaa V; Mohlke KL; Balkau B; Froguel P; Pouta A; Jarvelin MR; Wareham NJ; Bouatia-Naji N; McCarthy MI; Franks PW; Meigs JB; Teslovich TM; Florez JC; Langenberg C; Ingelsson E; Prokopenko I; Barroso I (2012)
      Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci ...