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Page 1
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann HE, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H, Turnbull DM. Elstner M, et al. Among authors: toniolo d. Ann Neurol. 2009 Dec;66(6):792-8. doi: 10.1002/ana.21780. Ann Neurol. 2009. PMID: 20035503 Free PMC article.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Lea… See abstract for full author list ➔ Pattaro C, et al. Among authors: d adamo p, toniolo d. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023. Nat Commun. 2016. PMID: 26831199 Free PMC article.
Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.
Pichler I, Del Greco M F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH; PD GWAS Consortium; Nalls M, Keller MF; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium 2; Benyamin B, Whitfield JB; Genetics of Iron Status Consortium; Pramstaller PP, Hicks AA, Thompson JR, Minelli C. Pichler I, et al. PLoS Med. 2013;10(6):e1001462. doi: 10.1371/journal.pmed.1001462. Epub 2013 Jun 4. PLoS Med. 2013. PMID: 23750121 Free PMC article.
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang SJ, Bergmann S, Campbell H, Cocca M, Gandin I, Girotto G, Glaudemans B, Hastie ND, Loffing J, Polasek O, Rampoldi L, Rudan I, Sala C, Traglia M, Vollenweider P, Vuckovic D, Youhanna S, Weber J, Wright AF, Kutalik Z, Bochud M, Fox CS, Devuyst O. Olden M, et al. Among authors: toniolo d. J Am Soc Nephrol. 2014 Aug;25(8):1869-82. doi: 10.1681/ASN.2013070781. Epub 2014 Feb 27. J Am Soc Nephrol. 2014. PMID: 24578125 Free PMC article.
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JMW, Buchkovich ML, Heard-Costa NL, Roman TS, Drong AW, Song C, Gustafsson S, Day FR, Esko T, Fall T, Kutalik Z, Luan J, Randall JC, Scherag A, Vedantam S, Wood AR, Chen J, Fehrmann R, Karjalainen J, Kahali B, Liu CT, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bragg-Gresham JL, Buyske S, Demirkan A, Ehret GB, Feitosa MF, Goel A, Jackson AU, Johnson T, Kleber ME, Kristiansson K, Mangino M, Leach IM, Medina-Gomez C, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Stančáková A, Sung YJ, Tanaka T, Teumer A, Van Vliet-Ostaptchouk JV, Yengo L, Zhang W, Albrecht E, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Böhringer S, Bonnet F, Böttcher Y, Bruinenberg M, Carba DB, Caspersen IH, Clarke R, Daw EW, Deelen J, Deelman E, Delgado G, Doney AS, Eklund N, Erdos MR, Estrada K, Eury E, Friedrich N, Garcia ME, Giedraitis V, Gigante B, Go AS, Golay A, Grallert H, Grammer TB, Gräßler J, Grewal J, Groves CJ, Haller T, Hallmans G, Hartman CA, Hassinen M, Hayward C, Heikkilä K, Herzig KH, Helmer Q, Hi… See abstract for full author list ➔ Shungin D, et al. Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132. Nature. 2015. PMID: 25673412 Free PMC article.
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Gorski M, van der Most PJ, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B, Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen MH, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, d'Adamo AP, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Höllerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kähönen N, Hwang SJ, Imboden M, Johansson Å, Kähönen M, König W, Kramer H, Krämer BK, Kumar A, Kutalik Z, Lambert JC, Launer LJ, Lehtimäki T, de Borst M, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikäinen LP, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Wjh Penninx B, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinde… See abstract for full author list ➔ Gorski M, et al. Among authors: d adamo ap, toniolo d. Sci Rep. 2017 Apr 28;7:45040. doi: 10.1038/srep45040. Sci Rep. 2017. PMID: 28452372 Free PMC article.
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J; GCAN; WTCCC3; Heid IM, Winkler TW; GIANT; Grant SF; EGG; Guo Y, Bergen AW, Kaye W, Berrettini W, Hakonarson H; Price Foundation Collaborative Group; Children’s Hospital of Philadelphia/Price Foundation; Herpertz-Dahlmann B, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Egberts KM, Adan R, Brandys M, van Elburg A, Boraska Perica V, Franklin CS, Tschöp MH, Zeggini E, Bulik CM, Collier D, Scherag A, Müller TD, Hebebrand J. Hinney A, et al. Mol Psychiatry. 2017 Feb;22(2):192-201. doi: 10.1038/mp.2016.71. Epub 2016 May 17. Mol Psychiatry. 2017. PMID: 27184124 Free PMC article.
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 … See abstract for full author list ➔ Huffman JE, et al. Among authors: d adamo p, toniolo d. PLoS One. 2015 Mar 26;10(3):e0119752. doi: 10.1371/journal.pone.0119752. eCollection 2015. PLoS One. 2015. PMID: 25811787 Free PMC article.
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N, Jansen R, de Vlaming R, Vaez A, Mandemakers JJ, Tropf FC, Shen X, Wilson JF, Chasman DI, Nolte IM, Tragante V, van der Laan SW, Perry JR, Kong A; BIOS Consortium; Ahluwalia TS, Albrecht E, Yerges-Armstrong L, Atzmon G, Auro K, Ayers K, Bakshi A, Ben-Avraham D, Berger K, Bergman A, Bertram L, Bielak LF, Bjornsdottir G, Bonder MJ, Broer L, Bui M, Barbieri C, Cavadino A, Chavarro JE, Turman C, Concas MP, Cordell HJ, Davies G, Eibich P, Eriksson N, Esko T, Eriksson J, Falahi F, Felix JF, Fontana MA, Franke L, Gandin I, Gaskins AJ, Gieger C, Gunderson EP, Guo X, Hayward C, He C, Hofer E, Huang H, Joshi PK, Kanoni S, Karlsson R, Kiechl S, Kifley A, Kluttig A, Kraft P, Lagou V, Lecoeur C, Lahti J, Li-Gao R, Lind PA, Liu T, Makalic E, Mamasoula C, Matteson L, Mbarek H, McArdle PF, McMahon G, Meddens SF, Mihailov E, Miller M, Missmer SA, Monnereau C, van der Most PJ, Myhre R, Nalls MA, Nutile T, Kalafati IP, Porcu E, Prokopenko I, Rajan KB, Rich-Edwards J, Rietveld CA, Robino A, Rose LM, Rueedi R, Ryan KA, Saba Y, Schmidt D, Smith JA, Stolk L, Streeten E, Tönjes A, Thorleifsson G, Ulivi S, Wedenoja J, Wellmann J, Willeit P, Yao J, Yengo L, Zhao JH, Zhao W, Zhernakova DV, Amin N, … See abstract for full author list ➔ Barban N, et al. Among authors: toniolo d. Nat Genet. 2016 Dec;48(12):1462-1472. doi: 10.1038/ng.3698. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798627 Free PMC article.
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, Kirsten H, Giri A, Chai JF, Sveinbjornsson G, Tayo BO, Nutile T, Fuchsberger C, Marten J, Cocca M, Ghasemi S, Xu Y, Horn K, Noce D, van der Most PJ, Sedaghat S, Yu Z, Akiyama M, Afaq S, Ahluwalia TS, Almgren P, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boehnke M, Boerwinkle E, Boissel M, Bottinger EP, Boutin TS, Brenner H, Brumat M, Burkhardt R, Butterworth AS, Campana E, Campbell A, Campbell H, Canouil M, Carroll RJ, Catamo E, Chambers JC, Chee ML, Chee ML, Chen X, Cheng CY, Cheng Y, Christensen K, Cifkova R, Ciullo M, Concas MP, Cook JP, Coresh J, Corre T, Sala CF, Cusi D, Danesh J, Daw EW, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Delgado G, Demirkan A, Di Angelantonio E, Dittrich K, Divers J, Dorajoo R, Eckardt KU, Ehret G, Elliott P, Endlich K, Evans MK, Felix JF, Foo VHX, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Friedlander Y, Froguel P, Gansevoort RT, Gao H, Gasparini P, Gaziano JM, Giedraitis V, Gieger C, Girotto G, Giulianini F, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, Haller T, Hamet P, Harris TB, H… See abstract for full author list ➔ Wuttke M, et al. Among authors: toniolo d. Nat Genet. 2019 Jun;51(6):957-972. doi: 10.1038/s41588-019-0407-x. Epub 2019 May 31. Nat Genet. 2019. PMID: 31152163 Free PMC article.
242 results