384 results on '"Peltonen, S."'
Search Results
2. Bending Performance of Slim Floor Composite Beams
- Author
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Kyriakopoulos, P., primary, Camnasio, E., additional, and Peltonen, S., additional
- Published
- 2023
- Full Text
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3. Differential Expression of Phenylalanine Ammonia-Lyase Genes in Barley Induced by Fungal Infection or Elicitors
- Author
-
Kervinen, T., Peltonen, S., Teeri, T. H., and Karjalainen, R.
- Published
- 1998
4. New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
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Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. A., Piñol-Ripoll, G., Pisanu, C., Polak, T., Popp, J., Posthuma, D., Priller, J., Puerta, R., Quenez, O., Quintela, I., Thomassen, J. Q., Rábano, A., Rainero, I., Rajabli, F., Ramakers, I., Real, L. M., Reinders, M. J. T., Reitz, C., Reyes-Dumeyer, D., Ridge, P., Riedel-Heller, S., Riederer, P., Roberto, N., Rodriguez-Rodriguez, E., Rongve, A., Allende, I. R., Rosende-Roca, M., Royo, J. L., Rubino, E., Rujescu, D., Sáez, M. E., Sakka, P., Saltvedt, I., Sanabria, Á., Sánchez-Arjona, M. B., Sanchez-Garcia, F., Juan, P. S., Sánchez-Valle, R., Sando, S. B., Sarnowski, C., Satizabal, C. L., Scamosci, M., Scarmeas, N., Scarpini, E., Scheltens, P., Scherbaum, N., Scherer, M., Schmid, M., Schneider, A., Schott, J. M., Selbæk, G., Seripa, D., Serrano, M., Sha, J., Shadrin, A. A., Skrobot, O., Slifer, S., Snijders, G. J. L., Soininen, H., Solfrizzi, V., Solomon, A., Song, Y. E., Sorbi, S., Sotolongo-Grau, O., Spalletta, G., Spottke, A., Squassina, A., Stordal, E., Tartan, J. P., Tárraga, L., Tesí, N., Thalamuthu, A., Thomas, T., Tosto, G., Traykov, L., Tremolizzo, L., Tybjærg-Hansen, A., Uitterlinden, A., Ullgren, A., Ulstein, I., Valero, S., Valladares, O., Broeckhoven, C. V., Vance, J., Vardarajan, B. N., van der Lugt, A., Dongen, J. V., van Rooij, J., van Swieten, J., Vandenberghe, R., Verhey, F., Vidal, J. -S., Vogelgsang, J., Vyhnalek, M., Wagner, M., Wallon, D., Wang, L. -S., Wang, R., Weinhold, L., Wiltfang, J., Windle, G., Woods, B., Yannakoulia, M., Zare, H., Zhao, Y., Zhang, X., Zhu, C., Zulaica, M., Laczo, J., Matoska, V., Serpente, M., Assogna, F., Piras, F., Ciullo, V., Shofany, J., Ferrarese, C., Andreoni, S., Sala, G., Zoia, C. P., Zompo, M. D., Benussi, A., Bastiani, P., Takalo, M., Natunen, T., Laatikainen, T., Tuomilehto, J., Antikainen, R., Strandberg, T., Lindström, J., Peltonen, M., Abraham, R., Al-Chalabi, A., Bass, N. J., Brayne, C., Brown, K. S., Collinge, J., Craig, D., Deloukas, P., Fox, N., Gerrish, A., Gill, M., Gwilliam, R., Harold, D., Hollingworth, P., Johnston, J. A., Jones, L., Lawlor, B., Livingston, G., Lovestone, S., Lupton, M., Lynch, A., Mann, D., Mcguinness, B., Mcquillin, A., O’Donovan, M. C., Owen, M. J., Passmore, P., Powell, J. F., Proitsi, P., Rossor, M., Shaw, C. E., Smith, A. D., Gurling, H., Todd, S., Mummery, C., Ryan, N., Lacidogna, G., Adarmes-Gómez, A., Mauleón, A., Pancho, A., Gailhajenet, A., Lafuente, A., Macias-García, D., Martín, E., Pelejà, E., Carrillo, F., Merlín, I. S., Garrote-Espina, L., Vargas, L., Carrion-Claro, M., Marín, M., Labrador, M., Buendia, M., Alonso, M. D., Guitart, M., Moreno, M., Ibarria, M., Periñán, M., Aguilera, N., Gómez-Garre, P., Cañabate, P., Escuela, R., Pineda-Sánchez, R., Vigo-Ortega, R., Jesús, S., Preckler, S., Rodrigo-Herrero, S., Diego, S., Vacca, A., Roveta, F., Salvadori, N., Chipi, E., Boecker, H., Laske, C., Perneczky, R., Anastasiou, C., Janowitz, D., Malik, R., Anastasiou, A., Parveen, K., López-García, S., Antonell, A., Mihova, K. Y., Belezhanska, D., Weber, H., Kochen, S., Solis, P., Medel, N., Lisso, J., Sevillano, Z., Politis, D. G., Cores, V., Cuesta, C., Ortiz, C., Bacha, J. I., Rios, M., Saenz, A., Abalos, M. S., Kohler, E., Palacio, D. L., Etchepareborda, I., Kohler, M., Novack, G., Prestia, F. A., Galeano, P., Castaño, E. M., Germani, S., Toso, C. R., Rojo, M., Ingino, C., Mangone, C., Rubinsztein, D. C., Teipel, S., Fievet, N., Deramerourt, V., Forsell, C., Thonberg, H., Bjerke, M., Roeck, E. D., Martínez-Larrad, M. T., Olivar, N., Cano, A., Macias, J., Maroñas, O., Nuñez-Llaves, R., Olivé, C., Adarmes-Gómez, A. D., Amer-Ferrer, G., Antequera, M., Burguera, J. A., Casajeros, M. J., Martinez de Pancorbo, M., Hevilla, S., Espinosa, M. A. L., Legaz, A., Manzanares, S., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, V., Martínez-Lage Álvarez, P., Iriarte, M. M., Periñán-Tocino, M. T., Real de Asúa, D., Rodrigo, S., Sastre, I., Vicente, M. P., Vivancos, L., Epelbaum, J., Hannequin, D., Campion, D., Deramecourt, V., Tzourio, C., Brice, A., Dubois, B., Williams, A., Thomas, C., Davies, C., Nash, W., Dowzell, K., Morales, A. C., Bernardo-Harrington, M., Turton, J., Lord, J., Brown, K., Vardy, E., Fisher, E., Warren, J. D., Ryan, N. S., Guerreiro, R., Uphill, J., Bass, N., Heun, R., Kölsch, H., Schürmann, B., Lacour, A., Herold, C., Powell, J., Patel, Y., Hodges, A., Becker, T., Warden, D., Wilcock, G., Clarke, R., Ben-Shlomo, Y., Hooper, N. M., Pickering-Brown, S., Sussams, R., Warner, N., Bayer, A., Heuser, I., Drichel, D., Klopp, N., Mayhaus, M., Riemenschneider, M., Pinchler, S., Feulner, T., Gu, W., van den Bussche, H., Hüll, M., Frölich, L., Wichmann, H. -E., Jöckel, K. -H., O’Donovan, M., Owen, M., Bahrami, S., Bosnes, I., Selnes, P., Bergh, S., Palotie, A., Daly, M., Jacob, H., Matakidou, A., Runz, H., John, S., Plenge, R., Mccarthy, M., Hunkapiller, J., Ehm, M., Waterworth, D., Fox, C., Malarstig, A., Klinger, K., Call, K., Behrens, T., Loerch, P., Mäkelä, T., Kaprio, J., Virolainen, P., Pulkki, K., Kilpi, T., Perola, M., Partanen, J., Pitkäranta, A., Kaarteenaho, R., Vainio, S., Turpeinen, M., Serpi, R., Laitinen, T., Mäkelä, J., Kosma, V. -M., Kujala, U., Tuovila, O., Hendolin, M., Pakkanen, R., Waring, J., Riley-Gillis, B., Liu, J., Biswas, S., Diogo, D., Marshall, C., Hu, X., Gossel, M., Graham, R., Cummings, B., Ripatti, S., Schleutker, J., Arvas, M., Carpén, O., Hinttala, R., Kettunen, J., Mannermaa, A., Laukkanen, J., Julkunen, V., Remes, A., Kälviäinen, R., Peltola, J., Tienari, P., Rinne, J., Ziemann, A., Esmaeeli, S., Smaoui, N., Lehtonen, A., Eaton, S., Lahdenperä, S., van Adelsberg, J., Michon, J., Kerchner, G., Bowers, N., Teng, E., Eicher, J., Mehta, V., Gormley, P., Linden, K., Whelan, C., Xu, F., Pulford, D., Färkkilä, M., Pikkarainen, S., Jussila, A., Blomster, T., Kiviniemi, M., Voutilainen, M., Georgantas, B., Heap, G., Rahimov, F., Usiskin, K., Lu, T., Oh, D., Kalpala, K., Miller, M., Mccarthy, L., Eklund, K., Palomäki, A., Isomäki, P., Pirilä, L., Kaipiainen-Seppänen, O., Huhtakangas, J., Lertratanakul, A., Hochfeld, M., Bing, N., Gordillo, J. E., Mars, N., Pelkonen, M., Kauppi, P., Kankaanranta, H., Harju, T., Close, D., Greenberg, S., Chen, H., Betts, J., Ghosh, S., Salomaa, V., Niiranen, T., Juonala, M., Metsärinne, K., Kähönen, M., Junttila, J., Laakso, M., Pihlajamäki, J., Sinisalo, J., Taskinen, M. -R., Tuomi, T., Challis, B., Peterson, A., Chu, A., Parkkinen, J., Muslin, A., Joensuu, H., Meretoja, T., Aaltonen, L., Mattson, J., Auranen, A., Karihtala, P., Kauppila, S., Auvinen, P., Elenius, K., Popovic, R., Schutzman, J., Loboda, A., Chhibber, A., Lehtonen, H., Mcdonough, S., Crohns, M., Kulkarni, D., Kaarniranta, K., Turunen, J. A., Ollila, T., Seitsonen, S., Uusitalo, H., Aaltonen, V., Uusitalo-Järvinen, H., Luodonpää, M., Hautala, N., Loomis, S., Strauss, E., Podgornaia, A., Hoffman, J., Tasanen, K., Huilaja, L., Hannula-Jouppi, K., Salmi, T., Peltonen, S., Koulu, L., Harvima, I., Wu, Y., Choy, D., Pussinen, P., Salminen, A., Salo, T., Rice, D., Nieminen, P., Palotie, U., Siponen, M., Suominen, L., Mäntylä, P., Gursoy, U., Anttonen, V., Sipilä, K., Davis, J. W., Quarless, D., Petrovski, S., Wigmore, E., Chen, C. -Y., Bronson, P., Tsai, E., Huang, Y., Maranville, J., Shaikho, E., Mohammed, E., Wadhawan, S., Kvikstad, E., Caliskan, M., Chang, D., Bhangale, T., Pendergrass, S., Holzinger, E., Chen, X., Hedman, Å., King, K. S., Wang, C., Xu, E., Auge, F., Chatelain, C., Rajpal, D., Liu, D., Xia, T. -H., Brauer, M., Kurki, M., Karjalainen, J., Havulinna, A., Jalanko, A., Palta, P., della Briotta Parolo, P., Zhou, W., Lemmelä, S., Rivas, M., Harju, J., Lehisto, A., Ganna, A., Llorens, V., Laivuori, H., Rüeger, S., Niemi, M. E., Tukiainen, T., Reeve, M. P., Heyne, H., Palin, K., Garcia-Tabuenca, J., Siirtola, H., Kiiskinen, T., Lee, J., Tsuo, K., Elliott, A., Kristiansson, K., Hyvärinen, K., Ritari, J., Koskinen, M., Pylkäs, K., Kalaoja, M., Karjalainen, M., Mantere, T., Kangasniemi, E., Heikkinen, S., Laakkonen, E., Sipeky, C., Heron, S., Karlsson, A., Jambulingam, D., Rathinakannan, V. S., Kajanne, R., Aavikko, M., Jiménez, M. G., della Briotta Parola, P., Kanai, M., Kaunisto, M., Kilpeläinen, E., Sipilä, T. P., Brein, G., Awaisa, G., Shcherban, A., Donner, K., Loukola, A., Laiho, P., Sistonen, T., Kaiharju, E., Laukkanen, M., Järvensivu, E., Lähteenmäki, S., Männikkö, L., Wong, R., Mattsson, H., Hiekkalinna, T., Paajanen, T., Pärn, K., Gracia-Tabuenca, J., Abner, E., Adams, P. M., Aguirre, A., Albert, M. S., Albin, R. L., Allen, M., Alvarez, L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Ayres, G., Baldwin, C. T., Barber, R. C., Barnes, L. L., Beach, T. G., Becker, J. T., Beecham, G. W., Beekly, D., Benitez, B. A., Bennett, D., Bertelson, J., Margaret, F. E., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Brewer, J., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Chasse, S., Chesselet, M. -F., Chesi, A., Chin, N. A., Chui, H. C., Craft, S., Crane, P. K., Cribbs, D. H., Crocco, E. A., Cruchaga, C., Cullum, M., Darby, E., Davis, B., De Jager, P. L., Decarli, C., Detoledo, J., Dick, M., Dickson, D. W., Dombroski, B. A., Doody, R. S., Duara, R., Ertekin-Taner, N., Evans, D. A., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Farrell, J. J., Fernandez-Hernandez, V., Ferris, S., Frosch, M. P., Galasko, D. R., Gamboa, A., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Grabowski, T. J., Graff-Radford, N. R., Grant, S. F. A., Green, R. C., Growdon, J. H., Hakonarson, H., Hall, J., Hamilton, R. L., Harari, O., Harrell, L. E., Haut, J., Head, E., Henderson, V. W., Hernandez, M., Hohman, T., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Hynan, L. S., Ibanez, L., Jarvik, G. P., Jayadev, S., Jin, L. -W., Johnson, K., Johnson, L., Kamboh, M. I., Karydas, A. M., Katz, M. J., Kaye, J. A., Keene, C. D., Khaleeq, A., Kim, R., Knebl, J., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Larson, E. B., Lee, E. B., Lerner, A., Leung, Y. Y., Leverenz, J. B., Levey, A. I., Li, M., Lieberman, A. P., Lipton, R. B., Logue, M., Lyketsos, C. G., Malamon, J., Mains, D., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., Massman, P., Masurkar, A., Mccormick, W. C., Mccurry, S. M., Mcdavid, A. N., Mckee, A. C., Mesulam, M., Mez, J., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Monuki, E. S., Morris, J. C., Myers, A. J., Nguyen, T., O’Bryant, S., Olichney, J. M., Ory, M., Palmer, R., Parisi, J. E., Paulson, H. L., Pavlik, V., Paydarfar, D., Perez, V., Peskind, E., Petersen, R. C., Phillips-Cremins, J. E., Pierce, A., Polk, M., Poon, W. W., Potter, H., Qu, L., Quiceno, M., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reisch, J. S., Ringman, J. M., Roberson, E. D., Rodriguear, M., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Small, S., Smith, A. G., Smith, J. P., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Stevens, A. B., Strittmatter, S. M., Sultzer, D., Swerdlow, R. H., Tanzi, R. E., Tilson, J. L., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., van Eldik, L. J., Vassar, R., Vinters, H. V., Vonsattel, J. -P., Weintraub, S., Welsh-Bohmer, K. A., Whitehead, P. L., Wijsman, E. M., Wilhelmsen, K. C., Williams, B., Williamson, J., Wilms, H., Wingo, T. S., Wisniewski, T., Woltjer, R. L., Woon, M., Wright, C. B., C. -K., Wu, Younkin, S. G., C. -E., Yu, Yu, L., Zhang, Y., Zhu, X., Adams, H., Akinyemi, R. O., Ali, M., Armstrong, N., Aparicio, H. J., Bahadori, M., Breteler, M., Chasman, D., Chauhan, G., Comic, H., Cox, S., Cupples, A. L., Davies, G., Decarli, C. S., Duperron, M. -G., Dupuis, J., Evans, T., Fan, F., Fitzpatrick, A., Fohner, A. E., Ganguli, M., Geerlings, M., Glatt, S. J., Gonzalez, H. M., Goss, M., Grabe, H., Habes, M., Heckbert, S. R., Hofer, E., Hong, E., Hughes, T., Kautz, T. F., Knol, M., Kremen, W., Lacaze, P., Lahti, J., Grand, Q. L., Litkowski, E., Li, S., Liu, X., Loitfelder, M., Manning, A., Maillard, P., Marioni, R., Mazoyer, B., van Lent, D. M., Mei, H., Mishra, A., Nyquist, P., O’Connell, J., Paus, T., Pausova, Z., Raikkonen-Talvitie, K., Riaz, M., Rich, S., Rotter, J., Romero, J., Roshchupkin, G., Saba, Y., Sargurupremraj, M., Schmidt, H., Schmidt, R., Shulman, J. M., Smith, J., Sekhar, H., Rajula, R., Shin, J., Simino, J., Sliz, E., Teumer, A., Thomas, A., Tin, A., Tucker-Drob, E., Vojinovic, D., Wang, Y., Weinstein, G., Williams, D., Wittfeld, K., Yanek, L., Yang, Y., Farrer, L. A., Psaty, B. M., Ghanbari, M., Raj, T., Sachdev, P., Mather, K., Jessen, F., Ikram, M. A., de Mendonça, A., Hort, J., Tsolaki, M., Pericak-Vance, M. A., Amouyel, P., Williams, J., Frikke-Schmidt, R., Clarimon, J., Deleuze, J. -F., Rossi, G., Seshadri, S., Andreassen, O. A., Ingelsson, M., Hiltunen, M., Sleegers, K., Schellenberg, G. D., van Duijn, C. M., Sims, R., van der Flier, W. M., Ruiz, A., Ramirez, A., Lambert J., -C, Jan, Laczo, Vaclav, Matoska, Maria, Serpente, Francesca, Assogna, Fabrizio, Piras, Federica, Piras, Valentina, Ciullo, Jacob, Shofany, Carlo, Ferrarese, Simona, Andreoni, Gessica, Sala, Chiara Paola Zoia, Maria Del Zompo, Benussi, Alberto, Patrizia, Bastiani, Mari, Takalo, Teemu, Natunen, Tiina, Laatikainen, Jaakko, Tuomilehto, Riitta, Antikainen, Timo, Strandberg, Jaana, Lindström, Markku, Peltonen, Richard, Abraham, Ammar, Al-Chalabi, Nicholas, J Bass, Carol, Brayne, Kristelle, S Brown, John, Collinge, David, Craig, Pangiotis, Deloukas, Nick, Fox, Amy, Gerrish, Michael, Gill, Rhian, Gwilliam, Denise, Harold, Paul, Hollingworth, Jarret, A Johnston, Lesley, Jones, Brian, Lawlor, Gill, Livingston, Simon, Lovestone, Michelle, Lupton, Aoibhinn, Lynch, David, Mann, Bernadette, Mcguinness, Andrew, Mcquillin, Michael, C O'Donovan, Michael, J Owen, Peter, Passmore, John, F Powell, Petra, Proitsi, Martin, Rossor, Christopher, E Shaw, A David Smith, 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Uitterlinden, A, Ullgren, A, Ulstein, I, Valero, S, Valladares, O, Broeckhoven, C, Vance, J, Vardarajan, B, van der Lugt, A, Dongen, J, van Rooij, J, van Swieten, J, Vandenberghe, R, Verhey, F, Vidal, J, Vogelgsang, J, Vyhnalek, M, Wagner, M, Wallon, D, Wang, L, Wang, R, Weinhold, L, Wiltfang, J, Windle, G, Woods, B, Yannakoulia, M, Zare, H, Zhao, Y, Zhang, X, Zhu, C, Zulaica, M, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Farrer, L, Psaty, B, Ghanbari, M, Raj, T, Sachdev, P, Mather, K, Jessen, F, Ikram, M, de Mendonça, A, Hort, J, Tsolaki, M, Pericak-Vance, M, Amouyel, P, Williams, J, Frikke-Schmidt, R, Clarimon, J, Deleuze, J, Rossi, G, Seshadri, S, Andreassen, O, Ingelsson, M, Hiltunen, M, Sleegers, K, Schellenberg, G, van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, VU University medical center, Amsterdam Neuroscience - Neurodegeneration, Neurology, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Personalized Medicine, APH - Methodology, Bellenguez, Céline [0000-0002-1240-7874], Küçükali, Fahri [0000-0002-3835-9639], Amin, Najaf [0000-0002-8944-1771], Holmans, Peter A [0000-0003-0870-9412], van der Lee, Sven J [0000-0003-1606-8643], Costa, Marcos R [0000-0002-4928-2163], Kuulasmaa, Teemu [0000-0002-1795-7314], Yang, Qiong [0000-0002-3658-1375], de Rojas, Itziar [0000-0002-2148-381X], Bis, Joshua C [0000-0002-3409-1110], Yaqub, Amber [0000-0002-3579-8054], Prokic, Ivana [0000-0002-0370-1473], Chapuis, Julien [0000-0002-5802-2857], Ahmad, Shahzad [0000-0002-8658-3790], Giedraitis, Vilmantas [0000-0003-3423-2021], Garcia-Gonzalez, Pablo [0000-0003-0125-5403], Alcolea, Daniel [0000-0002-3819-3245], Alvarez, Ignacio [0000-0002-8537-3935], Tsolaki, Anthoula [0000-0002-5563-7776], Baquero, Miquel [0000-0002-6861-1831], Pastor, Ana Belén [0000-0001-9637-4688], Berr, Claudine [0000-0001-5254-7655], Bessi, Valentina [0000-0002-6176-3584], Boada, Mercè [0000-0003-2617-3009], Bossù, Paola [0000-0002-1432-0078], Bråthen, Geir [0000-0003-3224-7983], Bressler, Jan [0000-0001-6578-4772], Bresner, Catherine [0000-0003-2673-9762], Brodaty, Henry [0000-0001-9487-6617], Brookes, Keeley J [0000-0003-2427-2513], Burholt, Vanessa [0000-0002-6789-127X], Bush, William S [0000-0002-9729-6519], Calero, Miguel [0000-0001-5366-3324], Chung, Jaeyoon [0000-0002-6431-9454], Cervera-Carles, Laura [0000-0003-2286-200X], Costantini, Emanuele [0000-0002-1096-8221], Dalmasso, Maria Carolina [0000-0002-4901-9955], de Paiva Lopes, Katia [0000-0002-0240-0126], de Witte, Lot D [0000-0002-7235-9958], Debette, Stéphanie [0000-0001-8675-7968], Del Ser, Teodoro [0000-0001-9806-7083], Dichgans, Martin [0000-0002-0654-387X], Diehl-Schmid, Janine [0000-0002-7745-1382], Diez-Fairen, Mónica [0000-0003-1882-0309], Djurovic, Srdjan [0000-0002-8140-8061], Dufouil, Carole [0000-0003-2442-4476], Escott-Price, Valentina [0000-0003-1784-5483], Ewers, Michael [0000-0001-5231-1714], Fabrizio, Tagliavini [0000-0003-1039-7315], Fladby, Tormod [0000-0002-9984-9797], Fornage, Myriam [0000-0003-0677-8158], Fox, Nick C [0000-0002-6660-657X], Bullido, María J [0000-0002-6477-1117], Froelich, Lutz [0000-0003-1494-0813], Galimberti, Daniela [0000-0002-9284-5953], García-Alberca, Jose Maria [0000-0003-2951-6644], Goate, Alison M [0000-0002-0576-2472], González-Pérez, Antonio [0000-0001-9771-5982], Green, Emma [0000-0002-8687-5590], Grünblatt, Edna [0000-0001-8505-7265], Gudnason, Vilmundur [0000-0001-5696-0084], Haapasalo, Annakaisa [0000-0003-0959-2957], Harwood, Janet [0000-0002-3225-0069], Heilmann-Heimbach, Stefanie [0000-0003-1057-465X], Herrmann, Martin J [0000-0001-9970-2122], Holstege, Henne [0000-0002-7688-3087], Biessels, Geert Jan [0000-0001-6862-2496], Jian, Xueqiu [0000-0002-0313-6494], Johansson, Charlotte [0000-0002-5351-1950], Jun, Gyungah R [0000-0002-3230-8697], Kastumata, Yuriko [0000-0002-0188-8094], Kehoe, Patrick G [0000-0002-7542-1139], Kornhuber, Johannes [0000-0002-8096-3987], Kosmidis, Mary H [0000-0001-8790-1220], Lage, Carmen [0000-0003-1703-121X], Launer, Lenore [0000-0002-3238-7612], Lee, Chien-Yueh [0000-0002-4304-974X], Lleó, Alberto [0000-0002-2568-5478], Lopez, Oscar [0000-0002-8546-8256], de Munain, Adolfo Lopez [0000-0002-9509-4032], Lunetta, Kathryn L [0000-0002-9268-810X], Ma, Yiyi [0000-0002-3609-8877], MacLeod, Catherine A [0000-0002-9314-7380], Marquié, Marta [0000-0002-0660-0950], Montes, Angel Martín [0000-0002-1694-786X], Mead, Simon [0000-0002-4326-1468], Medina, Miguel [0000-0002-7016-5340], Menéndez-González, Manuel [0000-0002-5218-0774], Mol, Merel [0000-0003-2533-2530], Morgan, Kevin [0000-0002-8217-2396], Nöthen, Markus M [0000-0002-8770-2464], Muchnik, Carolina [0000-0002-1542-3706], Nacmias, Benedetta [0000-0001-9338-9040], Nicolas, Gael [0000-0001-9391-7800], Nordestgaard, Børge G [0000-0002-1954-7220], Pasquier, Florence [0000-0001-9880-9788], Pastor, Pau [0000-0002-7493-8777], Peloso, Gina [0000-0002-5355-8636], Pérez-Cordón, Alba [0000-0002-6028-0791], Pérez-Tur, Jordi [0000-0002-9111-1712], Pericard, Pierre [0000-0001-8167-6448], Pineda, Juan A [0000-0002-3751-0296], Pisanu, Claudia [0000-0002-9151-4319], Posthuma, Danielle [0000-0001-7582-2365], Puerta, Raquel [0000-0002-1191-5893], Quenez, Olivier [0000-0002-8273-8505], Thomassen, Jesper Qvist [0000-0003-3484-9531], Real, Luis M [0000-0003-4932-7429], Reinders, Marcel JT [0000-0002-1148-1562], Reitz, Christiane [0000-0001-8757-7889], Riedel-Heller, Steffi [0000-0003-4321-6090], Rodriguez-Rodriguez, Eloy [0000-0001-7742-677X], Rongve, Arvid [0000-0002-0476-4134], Sáez, María Eugenia [0000-0001-9299-2534], Saltvedt, Ingvild [0000-0002-7897-9808], Juan, Pascual Sánchez [0000-0002-6081-8037], Sarnowski, Chloé [0000-0002-6090-7099], Satizabal, Claudia L [0000-0002-1115-4430], Schott, Jonathan M [0000-0003-2059-024X], Selbæk, Geir [0000-0001-6511-8219], Shadrin, Alexey A [0000-0002-7467-250X], Soininen, Hilkka [0000-0002-2785-9937], Solfrizzi, Vincenzo [0000-0002-8524-0315], Song, Yeunjoo [0000-0002-7452-3731], Sotolongo-Grau, Oscar [0000-0002-9679-0670], Spalletta, Gianfranco [0000-0002-7432-4249], Squassina, Alessio [0000-0001-7415-7607], Stordal, Eystein [0000-0002-2443-7923], Tosto, Giuseppe [0000-0001-7075-8245], Uitterlinden, Andre [0000-0002-7276-3387], Valladares, Otto [0000-0001-8055-2187], Broeckhoven, Christine Van [0000-0003-0183-7665], Vidal, Jean-Sébastien [0000-0001-6770-0720], Vogelgsang, Jonathan [0000-0001-9326-8193], Wagner, Michael [0000-0003-2589-6440], Wallon, David [0000-0002-2634-7198], Wiltfang, Jens [0000-0003-1492-5330], Woods, Bob [0000-0002-6781-651X], Yannakoulia, Mary [0000-0003-2171-7337], Zare, Habil [0000-0001-5902-6238], Zhang, Xiaoling [0000-0001-8237-1857], Farrer, Lindsay A [0000-0001-5533-4225], Psaty, Bruce M [0000-0002-7278-2190], Ghanbari, Mohsen [0000-0002-9476-7143], Raj, Towfique [0000-0002-9355-5704], Sachdev, Perminder [0000-0002-9595-3220], Mather, Karen [0000-0003-4143-8941], Ikram, M Arfan [0000-0003-0372-8585], Tsolaki, Magda [0000-0002-2072-8010], Pericak-Vance, Margaret A [0000-0001-7283-8804], Amouyel, Philippe [0000-0001-9088-234X], Williams, Julie [0000-0002-4069-0259], Frikke-Schmidt, Ruth [0000-0003-4084-5027], Seshadri, Sudha [0000-0001-6135-2622], Andreassen, Ole A [0000-0002-4461-3568], Sleegers, Kristel [0000-0002-0283-2332], van Duijn, Cornelia M [0000-0002-2374-9204], Sims, Rebecca [0000-0002-3885-1199], van der Flier, Wiesje M [0000-0001-8766-6224], Ramirez, Alfredo [0000-0003-4991-763X], Lambert, Jean-Charles [0000-0003-0829-7817], Apollo - University of Cambridge Repository, Complex Trait Genetics, Clinical sciences, Neuroprotection & Neuromodulation, Pathologic Biochemistry and Physiology, Clinical Biology, Epidemiology, Internal Medicine, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9), UAM. Departamento de Biología Molecular, University of Helsinki, Department of Neurosciences, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Clinicum, HUS Neurocenter, Neurologian yksikkö, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institut Pasteur, Institut National de la Santé et de la Recherche Médicale (France), European Commission, LabEx DISTALZ, Pérez-Tur, Jordi, University Children’s Hospital Basel (Suiza), INSERM (Francia), Lille Métropole Communauté Urbaine, Government of France (Francia), EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Holmans, Peter A. [0000-0003-0870-9412], van der Lee, Sven J. [0000-0003-1606-8643], Costa, Marcos R. [0000-0002-4928-2163], Bis, Joshua C. [0000-0002-3409-1110], Brookes, Keeley J. [0000-0003-2427-2513], Bush, William S. [0000-0002-9729-6519], de Witte, Lot D. [0000-0002-7235-9958], del Ser, Teodoro [0000-0001-9806-7083], Fox, Nick C. [0000-0002-6660-657X], Bullido, María J. [0000-0002-6477-1117], Goate, Alison M. [0000-0002-0576-2472], Herrmann, Martin J. [0000-0001-9970-2122], Jun, Gyungah R. [0000-0002-3230-8697], Kehoe, Patrick G. [0000-0002-7542-1139], Kosmidis, Mary H. [0000-0001-8790-1220], Lunetta, Kathryn L. [0000-0002-9268-810X], MacLeod, Catherine A. [0000-0002-9314-7380], Nöthen, Markus M. [0000-0002-8770-2464], Nordestgaard, Børge G. [0000-0002-1954-7220], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis M. [0000-0003-4932-7429], Reinders, Marcel J. T. [0000-0002-1148-1562], Satizabal, Claudia L. [0000-0002-1115-4430], Schott, Jonathan M. [0000-0003-2059-024X], Shadrin, Alexey A. [0000-0002-7467-250X], Farrer, Lindsay A. [0000-0001-5533-4225], Psaty, Bruce M. [0000-0002-7278-2190], Ikram, M. Arfan [0000-0003-0372-8585], Pericak-Vance, Margaret A. [0000-0001-7283-8804], Andreassen, Ole A. [0000-0002-4461-3568], van Duijn, Cornelia M. [0000-0002-2374-9204], van der Flier, Wiesje M. [0000-0001-8766-6224], and Molecular Neuroscience and Ageing Research (MOLAR)
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tau Proteins/genetics ,Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1] ,Neurologi ,MED/03 - GENETICA MEDICA ,45/43 ,Medizin ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,genetics [Alzheimer Disease] ,Genome-Wide Association Study ,Humans ,tau Proteins ,Alzheimer Disease ,Cognitive Dysfunction ,VARIANTS ,pathology [Alzheimer Disease] ,Tau Proteins ,Settore BIO/13 - Biologia Applicata ,Cognitive Dysfunction/psychology ,692/699/375/365/1283 ,IMPUTATION ,article ,1184 Genetics, developmental biology, physiology ,Biología y Biomedicina / Biología ,AMYLOID-BETA ,Settore MED/26 - NEUROLOGIA ,Neurology ,psychology [Cognitive Dysfunction] ,Medical Genetics ,Human ,Neuroscience(all) ,631/208/205/2138 ,All institutes and research themes of the Radboud University Medical Center ,SDG 3 - Good Health and Well-being ,ddc:570 ,Genetics ,Genetic Predisposition to Disease ,GENOME-WIDE ASSOCIATION ,METAANALYSIS ,Medicinsk genetik ,MED/26 - NEUROLOGIA ,Alzheimer Disease/genetics ,neurology ,tau Protein ,NECROSIS-FACTOR-ALPHA ,RISK LOCI ,genetics [tau Proteins] ,PREDICTION MODELS ,Human medicine ,GENERATION ,RESPONSES - Abstract
25 páginas, 6 figuras, 2 tablas, Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele., This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not
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- 2022
5. 289 Immune cell population of cutaneous neurofibromas
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Peltonen, S., primary, Kallionpää, R.A., additional, Le, K.M., additional, Martikkala, E., additional, Leivo, I., additional, and Peltonen, J., additional
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- 2022
- Full Text
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6. Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis
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Sliz, E. (Eeva), Huilaja, L. (Laura), Pasanen, A. (Anu), Laisk, T. (Triin), Reimann, E. (Ene), Mägi, R. (Reedik), F. (FinnGen), E. B. (Estonian Biobank Research Team), Hannula-Jouppi, K. (Katariina), Peltonen, S. (Sirkku), Salmi, T. (Teea), Koulu, L. (Leena), Tasanen, K. (Kaisa), Kettunen, J. (Johannes), Sliz, E. (Eeva), Huilaja, L. (Laura), Pasanen, A. (Anu), Laisk, T. (Triin), Reimann, E. (Ene), Mägi, R. (Reedik), F. (FinnGen), E. B. (Estonian Biobank Research Team), Hannula-Jouppi, K. (Katariina), Peltonen, S. (Sirkku), Salmi, T. (Teea), Koulu, L. (Leena), Tasanen, K. (Kaisa), and Kettunen, J. (Johannes)
- Abstract
Background: Atopic dermatitis (AD) is a common chronic inflammatory skin disease with high heritability. Previous genome-wide association studies have identified several loci predisposing to AD. These findings explain approximately 30% of the variance in AD susceptibility, suggesting that further work is required to fully understand the genetic underpinnings. Objectives: We sought to gain additional understanding of the genetic contribution to AD risk by using biobank resources. Methods: We completed a genome-wide meta-analysis of AD in 796,661 individuals (Ncases = 22,474) from the FinnGen study, the Estonian Biobank, and the UK Biobank. We further performed downstream in silico analyses to characterize the risk variants at the novel loci. Results: We report 30 loci associating with AD (P < 5 × 10-8 ), 5 of which are novel. In 2 of the novel loci, we identified missense mutations with deleterious predictions in desmocollin 1 and serpin family B member 7, genes encoding proteins crucial to epidermal strength and integrity. Conclusions: These findings elucidate novel genetic pathways involved in AD pathophysiology. The likely involvement of desmocollin 1 and serpin family B member 7 in AD pathogenesis may offer opportunities for the development of novel treatment strategies for AD in the future.
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- 2022
7. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M, and Pediatrics
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PTEN ,medicine.medical_specialty ,Colorectal cancer ,Consensus Development Conferences as Topic ,Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] ,Population ,MEDLINE ,CHILDREN ,Article ,03 medical and health sciences ,0302 clinical medicine ,SDG 3 - Good Health and Well-being ,Medicine and Health Sciences ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Genetics ,Humans ,Medicine ,Genetic Testing ,education ,Intensive care medicine ,Cancer genetics ,Early Detection of Cancer ,Genetics (clinical) ,030304 developmental biology ,Preventive medicine ,0303 health sciences ,education.field_of_study ,biology ,business.industry ,Endometrial cancer ,Cancer ,Guideline ,medicine.disease ,RISKS ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,030220 oncology & carcinogenesis ,Practice Guidelines as Topic ,biology.protein ,Medical genetics ,Hamartoma Syndrome, Multiple ,business - Abstract
Contains fulltext : 225252.pdf (Publisher’s version ) (Open Access) PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
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- 2020
8. 146 Betaine, a natural osmolyte, regulates tight junction protein amount and localization in normal human epidermal keratinocytes
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Anglenius, H., primary, Toriseva, M., additional, Rauhala, L., additional, Hakkarainen, J.J., additional, Siljamäki, E., additional, Pasonen-Seppänen, S., additional, Peltonen, S., additional, Peltonen, J., additional, Tammi, R., additional, Tiihonen, K., additional, and Kähäri, V., additional
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- 2021
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9. 280 Complement Factor D is a biomarker for progression of cutaneous squamous cell carcinoma
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Nezhad, P Rahmati, primary, Riihilä, P., additional, Knuutila, J.S., additional, Peltonen, S., additional, Kallajoki, M., additional, Meri, S., additional, Nissinen, L., additional, and Kähäri, V., additional
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- 2021
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10. Reply to Kratz et al
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Frebourg, T, Lagercrantz, SB, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M, and Pediatrics
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Gynecology ,medicine.medical_specialty ,business.industry ,MEDLINE ,Li-Fraumeni Syndrome ,Risk factors ,Correspondence ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,medicine ,Genetics ,Humans ,Tumor Suppressor Protein p53 ,business ,Genetics (clinical) ,Germ-Line Mutation - Abstract
Contains fulltext : 229308.pdf (Publisher’s version ) (Open Access)
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- 2020
11. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
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Natarajan, P. (Pradeep), Pampana, A. (Akhil), Graham, S. E. (Sarah E.), Ruotsalainen, S. E. (Sanni E.), Perry, J. A. (James A.), de Vries, P. S. (Paul S.), Broome, J. G. (Jai G.), Pirruccello, J. P. (James P.), Honigbere, M. C. (Michael C.), Aragam, K. (Krishna), Wolford, B. (Brooke), Brody, J. A. (Jennifer A.), Antonacci-Fulton, L. (Lucinda), Arden, M. (Moscati), Aslibekyan, S. (Stella), Assimes, T. L. (Themistocles L.), Ballantyne, C. M. (Christie M.), Bielak, L. F. (Lawrence F.), Bisl, J. C. (Joshua C.), Cade, B. E. (Brian E.), Do, R. (Ron), Doddapaneni, H. (Harsha), Emery, L. S. (Leslie S.), Hung, Y.-J. (Yi-Jen), Irvin, M. R. (Marguerite R.), Khan, A. T. (Alyna T.), Lange, L. (Leslie), Lee, J. (Jiwon), Lemaitre, R. N. (Rozenn N.), Martin, L. W. (Lisa W.), Metcalf, G. (Ginger), Montasser, M. E. (May E.), Moon, J.-Y. (Jee-Young), Muzny, D. (Donna), Connell, J. R. (Jeffrey R. O.), Palmer, N. D. (Nicholette D.), Peralta, J. M. (Juan M.), Peyser, P. A. (Patricia A.), Stilp, A. M. (Adrienne M.), Tsai, M. (Michael), Wang, F. F. (Fei Fei), Weeks, D. E. (Daniel E.), Yanek, L. R. (Lisa R.), Wilson, J. G. (James G.), Abecasis, G. (Goncalo), Arnett, D. K. (Donna K.), Becker, L. C. (Lewis C.), Blangercy, J. (John), Boerwinkle, E. (Eric), Bowden, D. W. (Donald W.), Chang, Y.-C. (Yi-Cheng), Chen, Y. I. (Yii-Der, I), Choi, W. J. (Won Jung), Correa, A. (Adolfo), Curran, J. E. (Joanne E.), Daly, M. J. (Mark J.), DutcherE, S. K. (Susan K.), Ellinor, P. T. (Patrick T.), Fornage, M. (Myriam), Freedman, B. I. (Barry, I), Gabriel, S. (Stacey), Germer, S. (Soren), Gibbs, R. A. (Richard A.), He, J. (Jiang), Hveem, K. (Kristian), Jarvik, G. P. (Gail P.), Kaplan, R. C. (Robert C.), Kardia, S. L. (Sharon L. R.), Kennyn, E. (Eimear), Kim, R. W. (Ryan W.), Kooperberg, C. (Charles), Laurie, C. C. (Cathy C.), Lee, S. (Seonwook), Lloyd-Jones, D. M. (Don M.), Loos, R. J. (Ruth J. F.), Lubitz, S. A. (Steven A.), Mathias, R. A. (Rasika A.), Martinez, K. A. (Karine A. Viaud), McGarvey, S. T. (Stephen T.), Mitche, B. D. (Braxton D.), Nickerson, D. A. (Deborah A.), North, K. E. (Kari E.), Palotie, A. (Aarno), Park, C. J. (Cheol Joo), Psat, B. M. (Bruce M. Y.), Rao, D. C. (D. C.), Redline, S. (Susan), Reiner, A. P. (Alexander P.), Seo, D. (Daekwan), Seo, J.-S. (Jeong-Sun), Smith, A. V. (Albert, V), Tracy, R. P. (Russell P.), Kathiresan, S. (Sekar), Cupples, L. A. (L. Adrienne), Rotten, J. I. (Jerome, I), Morrison, A. C. (Alanna C.), Rich, S. S. (Stephen S.), Ripatti, S. (Samuli), Wilier, C. (Cristen), Peloso, G. M. (Gina M.), Vasan, R. S. (Ramachandran S.), Abe, N. (Namiko), Albert, C. (Christine), Almasy, L. (Laura), Alonso, A. (Alvaro), Ament, S. (Seth), Anderson, P. (Peter), Applebaum-Bowden, D. (Deborah), Arking, D. (Dan), Ashley-Koch, A. (Allison), Auer, P. (Paul), Avramopoulos, D. (Dimitrios), Barnard, J. (John), Barnes, K. (Kathleen), Barr, R. G. (R. Graham), Barron-Casella, E. (Emily), Beaty, T. (Terri), Becker, D. (Diane), Beer, R. (Rebecca), Begum, F. (Ferdouse), Beitelshees, A. (Amber), Benjamin, E. (Emelia), Bezerra, M. (Marcos), Bielak, L. (Larry), Blackwel, T. (Thomas), Bowler, R. (Russell), Broecke, U. (Ulrich), Bunting, K. (Karen), Burchard, E. (Esteban), Buth, E. (Erin), Cardwel, J. (Jonathan), Carty, C. (Cara), Casaburi, R. (Richard), Casella, J. (James), Chaffin, M. (Mark), Chang, C. (Christy), Chasman, D. (Daniel), Chavan, S. (Sameer), Chen, B.-J. (Bo-Juen), Chen, W.-M. (Wei-Min), Chol, M. (Michael), Choi, S. H. (Seung Hoan), Chuang, L.-M. (Lee-Ming), Chung, M. (Mina), Conomos, M. P. (Matthew P.), Cornell, E. (Elaine), Crapo, J. (James), Curtis, J. (Jeffrey), Custer, B. (Brian), Damcott, C. (Coleen), Darbar, D. (Dawood), Das, S. (Sayantan), David, S. (Sean), Davis, C. (Colleen), Daya, M. (Michelle), de Andrade, M. (Mariza), DeBaunuo, M. (Michael), Duan, Q. (Qing), Devine, R. D. (Ranjan Deka Dawn DeMeo Scott), Duggirala, Q. R. (Qing Ravi), Durda, J. P. (Jon Peter), Dutcher, S. (Susan), Eaton, C. (Charles), Ekunwe, L. (Lynette), Farber, C. (Charles), Farnaml, L. (Leanna), Fingerlin, T. (Tasha), Flickinger, M. (Matthew), Franceschini, N. (Nora), Fu, M. (Mao), Fullerton, S. M. (Stephanie M.), Fulton, L. (Lucinda), Gan, W. (Weiniu), Gao, Y. (Yan), Gass, M. (Margery), Ge, B. (Bruce), Geng, X. P. (Xiaoqi Priscilla), Gignoux, C. (Chris), Gladwin, M. (Mark), Glahn, D. (David), Gogarten, S. (Stephanie), Gong, D.-W. (Da-Wei), Goring, H. (Harald), Gu, C. C. (C. Charles), Guan, Y. (Yue), Guo, X. (Xiuqing), Haessler, J. (Jeff), Hall, M. (Michael), Harris, D. (Daniel), Hawle, N. Y. (Nicola Y.), Heavner, B. (Ben), Heckbert, S. (Susan), Hernandez, R. (Ryan), Herrington, D. (David), Hersh, C. (Craig), Hidalgo, B. (Bertha), Hixson, J. (James), Hokanson, J. (John), Hong, E. (Elliott), Hoth, K. (Karin), Hsiung, C. A. (Chao Agnes), Huston, H. (Haley), Hwu, C. M. (Chii Min), Jackson, R. (Rebecca), Jain, D. (Deepti), Jaquish, C. (Cashell), Jhun, M. A. (Min A.), Johnsen, J. (Jill), Johnson, A. (Andrew), Johnson, C. (Craig), Johnston, R. (Rich), Jones, K. (Kimberly), Kang, H. M. (Hyun Min), Kaufman, L. (Laura), Kell, S. Y. (Shannon Y.), Kessler, M. (Michael), Kinney, G. (Greg), Konkle, B. (Barbara), Kramer, H. (Holly), Krauter, S. (Stephanie), Lange, C. (Christoph), Lange, E. (Ethan), Laurie, C. (Cecelia), LeBoff, M. (Meryl), Lee, S. S. (Seunggeun Shawn), Lee, W.-J. (Wen-Jane), LeFaive, J. (Jonathon), Levine, D. (David), Levy, D. (Dan), Lewis, J. (Joshua), Li, Y. (Yun), Lin, H. (Honghuang), Lin, K. H. (Keng Han), Lin, X. (Xihong), Liu, S. (Simin), Liu, Y. (Yongmei), Lunetta, K. (Kathryn), Luo, J. (James), Mahaney, M. (Michael), Make, B. (Barry), Manichaikul, A. (Ani), Mansonl, J. (JoAnn), Margolin, L. (Lauren), Mathai, S. (Susan), McArdle, P. (Patrick), Mcdonald, M.-L. (Merry-Lynn), McFarland, S. (Sean), McHugh, C. (Caitlin), Mei, H. (Hao), Meyers, D. A. (Deborah A.), Mikulla, J. (Julie), Min, N. (Nancy), Minear, M. (Mollie), Minster, R. L. (Ryan L.), Musani, S. (Solomon), Mwasongwe, S. (Stanford), Mychaleckyj, J. C. (Josyf C.), Nadkarni, G. (Girish), Naik, R. (Rakhi), Naseri, T. (Take), Nekhai, S. (Sergei), Nelson, S. C. (Sarah C.), Nickerson, D. (Deborah), Connell, J. O. (Jeff O.), Connor, T. O. (Tim O.), Ochs-Balcom, H. (Heather), Pankow, J. (James), Papanicolaou, G. (George), Parkerl, M. (Margaret), Parsa, A. (Afshin), Penchey, S. (Sara), Perez, M. (Marco), Peters, U. (Ulrike), Phillips, L. S. (Lawrence S.), Phillips, S. (Sam), Pollin, T. (Toni), Post, W. (Wendy), Becker, J. P. (Julia Powers), Boorgula, M. P. (Meher Preethi), Preuss, M. (Michael), Prokopenko, D. (Dmitry), Qasba, P. (Pankaj), Qiao, D. (Dandi), Rafaels, N. (Nicholas), Raffield, L. (Laura), Rasmussen-Torvik, L. (Laura), Ratan, A. (Aakrosh), Reed, R. (Robert), Reganl, E. (Elizabeth), Reupena, M. S. (Muagututi Sefuiva), Rice, K. (Ken), Roden, D. (Dan), Roselli, C. (Carolina), Ruczinski, I. (Ingo), Russel, P. (Pamela), Ruuska, S. (Sarah), Ryan, K. (Kathleen), Sabino, E. C. (Ester Cerdeira), Sakornsakolpatl, P. (Phuwanat), Salzberg, S. (Steven), Sandow, K. (Kevin), Sankaran, V. G. (Vijay G.), Scheller, C. (Christopher), Schmidt, E. (Ellen), Schwander, K. (Karen), Schwartz, D. (David), Sciurba, F. (Frank), Seidman, C. (Christine), Seidman, J. (Jonathan), Sheehan, V. (Vivien), Shetty, A. (Amol), Shetty, A. (Aniket), Sheu, W. H. (Wayne Hui-Heng), Shoemaker, M. B. (M. Benjamin), Silver, B. (Brian), Silvermanl, E. (Edwin), Smith, J. (Jennifer), Smith, J. (Josh), Smith, N. (Nicholas), Smith, T. (Tanja), Smoller, S. (Sylvia), Snively, B. (Beverly), Soferlm, T. (Tamar), Streeten, E. (Elizabeth), Su, J. L. (Jessica Lasky), Sung, Y. J. (Yun Ju), Sylvia, J. (Jody), Sztalryd, C. (Carole), Taliun, D. (Daniel), Tang, H. (Hua), Taub, M. (Margaret), Taylor, K. D. (Kent D.), Taylor, S. (Simeon), Telen, M. (Marilyn), Thornton, T. A. (Timothy A.), Tinker, L. (Lesley), Tirschwel, D. (David), Tiwari, H. (Hemant), Vaidya, D. (Dhananjay), VandeHaar, P. (Peter), Vrieze, S. (Scott), Walker, T. (Tarik), Wallace, R. (Robert), Waits, A. (Avram), Wan, E. (Emily), Wang, H. (Heming), Watson, K. (Karol), Weir, B. (Bruce), Weiss, S. (Scott), Weng, L.-C. (Lu-Chen), Williams, K. (Kayleen), Williams, L. K. (L. Keoki), Wilson, C. (Carla), Wong, Q. (Quenna), Xu, H. (Huichun), Yang, I. (Ivana), Yang, R. (Rongze), Zaghlou, N. (Norann), Zekavat, M. (Maryam), Zhang, Y. (Yingze), Zhao, S. X. (Snow Xueyan), Zhao, W. (Wei), Zni, D. (Degui), Zhou, X. (Xiang), Zhu, X. (Xiaofeng), Zody, M. (Michael), Zoellner, S. (Sebastian), Daly, M. (Mark), Jacob, H. (Howard), Matakidou, A. (Athena), Runz, H. (Heiko), John, S. (Sally), Plenge, R. (Robert), McCarthy, M. (Mark), Hunkapiller, J. (Julie), Ehm, M. (Meg), Waterworth, D. (Dawn), Fox, C. (Caroline), Malarstig, A. (Anders), Klinger, K. (Kathy), Call, K. (Kathy), Mkel, T. (Tomi), Kaprio, J. (Jaakko), Virolainen, P. (Petri), Pulkki, K. (Kari), Kilpi, T. (Terhi), Perola, M. (Markus), Partanen, J. (Jukka), Pitkranta, A. (Anne), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Savinainen, K. (Kimmo), Kosma, V.-M. (Veli-Matti), Kujala, U. (Urho), Tuovila, O. (Outi), Hendolin, M. (Minna), Pakkanen, R. (Raimo), Waring, J. (Jeff), Riley-Gillis, B. (Bridget), Liu, J. (Jimmy), Biswas, S. (Shameek), Diogo, D. (Dorothee), Marshall, C. (Catherine), Hu, X. (Xinli), Gossel, M. (Matthias), Schleutker, J. (Johanna), Arvas, M. (Mikko), Hinttala, R. (Reetta), Kettunen, J. (Johannes), Laaksonen, R. (Reijo), Mannermaa, A. (Arto), Paloneva, J. (Juha), Soininen, H. (Hilkka), Julkunen, V. (Valtteri), Remes, A. (Anne), Klviinen, R. (Reetta), Hiltunen, M. (Mikko), Peltola, J. (Jukka), Tienari, P. (Pentti), Rinne, J. (Juha), Ziemann, A. (Adam), Waring, J. (Jeffrey), Esmaeeli, S. (Sahar), Smaoui, N. (Nizar), Lehtonen, A. (Anne), Eaton, S. (Susan), Landenper, S. (Sanni), Michon, J. (John), Kerchner, G. (Geoff), Bowers, N. (Natalie), Teng, E. (Edmond), Eicher, J. (John), Mehta, V. (Vinay), Gormle, P. Y. (Padhraig Y.), Linden, K. (Kari), Whelan, C. (Christopher), Xu, F. (Fanli), Pulford, D. (David), Frkkil, M. (Martti), Pikkarainen, S. (Sampsa), Jussila, A. (Airi), Blomster, T. (Timo), Kiviniemi, M. (Mikko), Voutilainen, M. (Markku), Georgantas, B. (Bob), Heap, G. (Graham), Rahimov, F. (Fedik), Usiskin, K. (Keith), Maranville, J. (Joseph), Lu, T. (Tim), Oh, D. (Danny), Kalpala, K. (Kirsi), Miller, M. (Melissa), McCarthy, L. (Linda), Eklund, K. (Kari), Palomki, A. (Antti), Isomki, P. (Pia), Piri, L. (Laura), Kaipiainen-Seppnen, O. (Oili), Lertratanaku, A. (Apinya), Bing, D. C. (David Close Marla Hochfeld Nan), Gordillo, J. E. (Jorge Esparza), Mars, N. (Nina), Laitinen, T. (Tarja), Pelkonen, M. (Margit), Kauppi, P. (Paula), Kankaanranta, H. (Hannu), Harju, T. (Terttu), Greenberg, S. (Steven), Chen, H. (Hubert), Betts, J. (Jo), Ghosh, S. (Soumitra), Salomaa, V. (Veikko), Niiranen, T. (Teemu), Juonala, M. (Markus), Metsrinne, K. (Kaj), Khnen, M. (Mika), Junttila, J. (Juhani), Laakso, M. (Markku), Pihlajamki, J. (Jussi), Sinisalo, J. (Juha), Taskinen, M.-R. (Marja-Riitta), Tuomi, T. (Tiinamaija), Laukkanen, J. (Jari), Challis, B. (Ben), Peterson, A. (Andrew), Chu, A. (Audrey), Parkkinen, J. (Jaakko), Muslin, A. (Anthony), Joensuu, H. (Heikki), Meretoja, T. (Tuomo), Aaltonen, L. (Lauri), Auranen, A. (Annika), Karihtala, P. (Peeter), Kauppila, S. (Saila), Auvinen, P. (Pivi), Elenius, K. (Klaus), Popovic, R. (Relja), Schutzman, J. (Jennifer), Loboda, A. (Andrey), Chhibber, A. (Aparna), Lehtonen, H. (Heli), McDonough, S. (Stefan), Crohns, M. (Marika), Kulkarni, D. (Diptee), Kaarniranta, K. (Kai), Turunen, J. (Joni), Ollila, T. (Terhi), Seitsonen, S. (Sanna), Uusitalo, H. (Hannu), Aaltonen, V. (Vesa), Uusitalo-Jrvinen, H. (Hannele), Luodonp, M. (Marja), Hautala, N. (Nina), Strauss, E. (Erich), Chen, H. (Hao), Podgornaia, A. (Anna), Hoffman, J. (Joshua), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Hannula-Jouppi, K. (Katariina), Salmi, T. (Teea), Peltonen, S. (Sirkku), Koulu, L. (Leena), Harvima, I. (Ilkka), Wu, Y. (Ying), Choy, D. (David), Jalanko, A. (Anu), Kajanne, R. (Risto), Lyhs, U. (Ulrike), Kaunisto, M. (Mari), Davis, J. W. (Justin Wade), Quarless, D. (Danjuma), Petrovski, S. (Slav), Chen, C.-Y. (Chia-Yen), Bronson, P. (Paola), Yang, R. (Robert), Chang, D. (Diana), Bhangale, T. (Tushar), Holzinger, E. (Emily), Wang, X. (Xulong), Chen, X. (Xing), Auro, K. (Kirsi), Wang, C. (Clarence), Xu, E. (Ethan), Auge, F. (Franck), Chatelain, C. (Clement), Kurki, M. (Mitja), Karjalainen, J. (Juha), Havulinna, A. (Aki), Palin, K. (Kimmo), Palta, P. (Priit), Parolo, P. D. (Pietro Della Briotta), Zhou, W. (Wei), Lemmel, S. (Susanna), Rivas, M. (Manuel), Harju, J. (Jarmo), Lehisto, A. (Arto), Ganna, A. (Andrea), Llorens, V. (Vincent), Karlsson, A. (Antti), Kristiansson, K. (Kati), Hyvrinen, K. (Kati), Ritari, J. (Jarmo), Wahlfors, T. (Tiina), Koskinen, M. (Miika), Pylkäs, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Mantere, T. (Tuomo), Kangasniemi, E. (Eeva), Heikkinen, S. (Sami), Laakkonen, E. (Eija), Kononen, J. (Juha), Loukola, A. (Anu), Laiho, P. (Pivi), Sistonen, T. (Tuuli), Kaiharju, E. (Essi), Laukkanen, M. (Markku), Jrvensivu, E. (Elina), Lhteenmki, S. (Sini), Mnnikk, L. (Lotta), Wong, R. (Regis), Mattsson, H. (Hannele), Hiekkalinna, T. (Tero), Jimnez, M. G. (Manuel Gonzlez), Donner, K. (Kati), Prn, K. (KaIle), Nunez-Fontarnau, J. (Javier), Kilpelinen, E. (Elina), Sipi, T. P. (Timo P.), Brein, G. (Georg), Dada, A. (Alexander), Awaisa, G. (Ghazal), Shcherban, A. (Anastasia), Sipil, T. (Tuomas), Laivuori, H. (Hannele), Kiiskinen, T. (Tuomo), Siirtola, H. (Harri), Tabuenca, J. G. (Javier Gracia), Kallio, L. (Lila), Soini, S. (Sirpa), Pitknen, K. (Kimmo), and Kuopio, T. (Teijo)
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Cardiovascular genetics ,Genome-wide association studies - Abstract
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids.
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- 2021
12. A role for caveolin-1 in desmoglein binding and desmosome dynamics
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Brennan, D, Peltonen, S, Dowling, A, Medhat, W, Green, K J, Wahl, III, J K, Del Galdo, F, and Mahoney, M G
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- 2012
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13. 486P The influence of NF1 germline and somatic mutations on breast cancer patient survival
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Kallionpää, R.A., Huovinen, R., Peltonen, S., and Peltonen, J.
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- 2023
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14. Gap-filling for the high-resolution PET sinograms with a dedicated DCT-domain filter
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Tuna, U., Peltonen, S., and Ruotsalainen, U.
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PET imaging -- Usage ,Interpolation -- Analysis ,Business ,Electronics ,Electronics and electrical industries ,Health care industry - Published
- 2010
15. Evaluation of Robust Estimators Applied to Fluorescence Assays
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Västilä, M., Peltonen, S., Soukka, J, Albán, E., Soini, J. T., and Ruotsalainen, U.
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- 2007
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16. Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
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Frebourg, T, Bajalica Lagercrantz, S, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Oostenbrink, Rianne, Peltonen, S, Hietala, M, and Pediatrics
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SDG 3 - Good Health and Well-being - Published
- 2020
17. Reply to Kratz et al.
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Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
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- 2020
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18. Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
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Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
- Abstract
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher canc
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- 2020
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19. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
- Abstract
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
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- 2020
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20. Validation of psoriasis diagnoses recorded in Finnish biobanks
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Haverinen, S. (Suvi), Vihervaara, A. (Armi), Löyttyniemi, E. (Eliisa), Peltonen, S. (Sirkku), Koulu, L. (Leena), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Haverinen, S. (Suvi), Vihervaara, A. (Armi), Löyttyniemi, E. (Eliisa), Peltonen, S. (Sirkku), Koulu, L. (Leena), Tasanen, K. (Kaisa), and Huilaja, L. (Laura)
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- 2020
21. Cancer Surveillance Guideline for individuals withPTENhamartoma tumour syndrome
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Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M, Tischkowitz, M, Colas, C, Pouwels, S, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, and Hietala, M
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- 2020
22. Ultrastructural localization of NF1 tumor suppressor protein in human skin
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Koivunen, J., Kuorilehto, T., Kaisto, T., Peltonen, S., and Peltonen, J.
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- 2002
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23. Safety and efficacy of tacrolimus ointment in the longterm use for atopic blepharoconjunctivitis: Sa-Sw3–3
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Kiiski, V, Remitz, A, Reitamo, S, Peltonen, S, Mandelin, J, and Kari, O
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- 2012
24. Composition of Neurofibromas, NF1 Expression, and Comparison of Normal and NF1 Haploinsufficient Cells
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Peltonen, J., primary and Peltonen, S., additional
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- 2008
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25. 酶 C1r 和 C1s 可能显示一种皮肤癌(角质形成细胞源性皮肤鳞状细胞癌)的进展
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Riihilä, P., primary, Viiklepp, K., additional, Nissinen, L., additional, Farshchian, M., additional, Kallajoki, M., additional, Kivisaari, A., additional, Meri, S., additional, Peltonen, J., additional, Peltonen, S., additional, and Kähäri, V.‐M., additional
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- 2020
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26. Enzymes C1r and C1s may show progression of a type of skin cancer called keratinocyte‐derived cutaneous squamous cell carcinoma
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Riihilä, P., primary, Viiklepp, K., additional, Nissinen, L., additional, Farshchian, M., additional, Kallajoki, M., additional, Kivisaari, A., additional, Meri, S., additional, Peltonen, J., additional, Peltonen, S., additional, and Kähäri, V.‐M., additional
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- 2020
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27. Validation of Psoriasis Diagnoses Recorded in Finnish Biobanks
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Haverinen, S, primary, Vihervaara, A, additional, Löyttyniemi, E, additional, Peltonen, S, additional, Koulu, L, additional, Tasanen, K, additional, Huilaja, L, additional, and investigators, f, additional
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- 2020
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28. Peripheral arterial disease as a predictor of outcome after renal transplantation
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Mäkisalo, H., Lepäntalo, M., Halme, L., Lund, T., Peltonen, S., Salmela, K., and Ahonen, J.
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- 1998
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29. Successful Liver-Kidney Transplantation in Two Children With aHUS Caused by a Mutation in Complement Factor H
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Jalanko, H., Peltonen, S., Koskinen, A., Puntila, J., Isoniemi, H., Holmberg, C., Pinomäki, A., Armstrong, E., Koivusalo, A., Tukiainen, E., Mäkisalo, H., Saland, J., Remuzzi, G., de Cordoba, S., Lassila, R., Meri, S., and Jokiranta, T. S.
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- 2008
30. Kielitietoisuus matematiikan käsitteiden opetuksessa:miltä kielitietoisuus tuntuu opettajista?
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Peltonen, S. (Sara)
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Tiivistelmä. Tässä tutkimuksessa perehdytään matematiikan käsitteiden opettamiseen S2-oppilaita sisältävässä ryhmässä ja erityisesti opettajien kokemiin haasteisiin ja keinoihin, joita heillä on kielitietoisen opetuksensa toteuttamisessa. Matematiikan käsitteet ovat sekä käsitteinä että sanaston tasolla erityisiä. Kielitietoisuuteen liittyy kunkin oppiaineen tyypillisen diskurssin, eli kielen käytön tapojen kuten käsitteiden, opettamisen huomioiminen. Tutkimuksessa perehdytään kielitietoisuuden määritelmiin, jotka auttavat ymmärtämään opettajien kokemusta kielitietoisuuden toteutumisesta. Kielitietoisuuteen kuuluvat käsitteellisen ajattelun osiot, käsitteet ja tieteenalan tyypillinen kieli, käsitellään tarkemmin matematiikan kontekstissa. Aihe on erittäin ajankohtainen, sillä kielitietoisuus on mainittu erikseen 2014 ilmestyneessä opetussuunnitelmassa ja koulut ovat ottaneet sen haltuun muutama vuosi sitten. Aikaisempaa tutkimusta ei juurikaan ole tehty Suomessa. Tutkimusote on laadullinen ja metodia määrittää fenomenologia. Fenomenologinen tutkimus tutkii kokemusta, ja kuten tässäkin tutkimuksessa, kokemuksen sisältöjä ja niiden merkityksiä. Pyrkimyksenä on kokemuksen ymmärtäminen. Aineiston keruu on toteutettu focus group -keskusteluna, eli ryhmähaastatteluna, jossa haastattelijan antamalle aiheelle syntynyttä vuoropuhelua on hyödynnetty analyysissa. Kokemuksista käyty vuorovaikutus on välttämätöntä tieteellisen tiedon saamiseksi. Keskustelutilanne oli fenomenologian mukaisesti avoin ja osallistujien esille nostamat seikat muodostavat analyysin luokat. Aineiston analyysi on näin ollen aineistolähtöinen. Tutkimuksessa kuvataan opettajien kokemusta kielitietoisuuden toteutumisesta oppiainekontekstissa. Tutkimukseen osallistui kolme alakoulun opettajaa, joilla on kokemusta S2-oppilaiden opettamisesta matematiikan tunnilla. Aineisto osoittaa, että opettajat ovat opetuksessaan kielitietoisia, ja heillä on paljon keinoja ja tapoja sen toteuttamiseen. Kuitenkin opettajat kokevat jäävänsä yksin monipuolisen opetusryhmän kanssa ja kokevat huonoa omatuntoa siitä, että S2-oppilas ei aina saa tarvitsemaansa huomiota muun ryhmän joukossa. Opettajien keskustelusta huokuu tunne siitä, että käsitteitä rakentavia keinoja ei aina pystytä arjen muuttuvissa tilanteissa pitämään opetuksessa mukana ja yksilöllisen materiaalin ja oppimissuunnitelmien tiukka seuraaminen on hyvin työlästä. Käsitteet ja sanasto tuottavat S2-oppilaille paljon haasteita ja erityisesti käsitteet eivät tunnu löytävän mitään tarttumapintaa oppilaiden tietopohjasta tai arjesta.
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- 2019
31. Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
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Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Erasmus School of Health Policy & Management, Pediatrics, and Legius, Eric
- Subjects
0301 basic medicine ,Cancer Research ,Pediatrics ,Databases, Factual ,Colorectal cancer ,International Cooperation ,030105 genetics & heredity ,Medical Oncology ,GUIDELINES ,COLORECTAL-CANCER ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,0302 clinical medicine ,Epidemiology ,Medicine and Health Sciences ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Registries ,Genetics (clinical) ,Syndrome ,Quality Improvement ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,Rare diseases ,Europe ,Oncology ,030220 oncology & carcinogenesis ,Clinical Competence ,Hereditary diffuse gastric cancer ,medicine.medical_specialty ,Short Communication ,European Reference Network ,behavioral disciplines and activities ,Time-to-Treatment ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,Cross border health care ,SDG 3 - Good Health and Well-being ,Genetic ,Neoplastic Syndromes, Hereditary ,Genetics ,medicine ,Genetic predisposition ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Neurofibromatosis ,Information Services ,business.industry ,Information Dissemination ,Remote Consultation ,Cancer ,medicine.disease ,PREVENTION ,Hereditary cancer ,Li–Fraumeni syndrome ,business ,Rare disease - Abstract
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer. ispartof: Familial Cancer vol:18 issue:2 pages:281-284 ispartof: location:Netherlands status: published
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- 2019
32. Genetic architecture of human plasma lipidome and its link to cardiovascular disease
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Tabassum, R. (Rubina), Ramo, J. T. (Joel T.), Ripatti, P. (Pietari), Koskela, J. T. (Jukka T.), Kurki, M. (Mitja), Karjalainen, J. (Juha), Palta, P. (Priit), Hassan, S. (Shabbeer), Nunez-Fontarnau, J. (Javier), Kiiskinen, T. T. (Tuomo T. J.), Soderlund, S. (Sanni), Matikainen, N. (Niina), Gerl, M. J. (Mathias J.), Surma, M. A. (Michal A.), Klose, C. (Christian), Stitziel, N. O. (Nathan O.), Laivuori, H. (Hannele), Havulinna, A. S. (Aki S.), Service, S. K. (Susan K.), Salomaa, V. (Veikko), Pirinen, M. (Matti), Jauhiainen, M. (Matti), Daly, M. J. (Mark J.), Freimer, N. B. (Nelson B.), Palotie, A. (Aarno), Taskinen, M.-R. (Marja-Riitta), Simons, K. (Kai), Ripatti, S. (Samuli), Jalanko, A. (Anu), Kaprio, J. (Jaakko), Donner, K. (Kati), Kaunisto, M. (Mari), Mars, N. (Nina), Dada, A. (Alexander), Shcherban, A. (Anastasia), Ganna, A. (Andrea), Lehisto, A. (Arto), Kilpelainen, E. (Elina), Brein, G. (Georg), Awaisa, G. (Ghazal), Harju, J. (Jarmo), Parr, K. (Kalle), Parolo, P. D. (Pietro Della Briotta), Kajanne, R. (Risto), Lemmela, S. (Susanna), Sipila, T. P. (Timo P.), Sipila, T. (Tuomas), Lyhs, U. (Ulrike), Llorens, V. (Vincent), Niiranen, T. (Teemu), Kristiansson, K. (Kati), Mannikko, L. (Lotta), Jimenez, M. G. (Manuel Gonzalez), Perola, M. (Markus), Wong, R. (Regis), Kilpi, T. (Terhi), Hiekkalinna, T. (Tero), Jarvensivu, E. (Elina), Kaiharju, E. (Essi), Mattsson, H. (Hannele), Laukkanen, M. (Markku), Laiho, P. (Paivi), Lahteenmaki, S. (Sini), Sistonen, T. (Tuuli), Soini, S. (Sirpa), Ziemann, A. (Adam), Lehtonen, A. (Anne), Lertratanakul, A. (Apinya), Georgantas, B. (Bob), Riley-Gillis, B. (Bridget), Quarless, D. (Danjuma), Rahimov, F. (Fedik), Heap, G. (Graham), Jacob, H. (Howard), Waring, J. (Jeffrey), Davis, J. W. (Justin Wade), Smaoui, N. (Nizar), Popovic, R. (Relja), Esmaeeli, S. (Sahar), Waring, J. (Jeff), Matakidou, A. (Athena), Challis, B. (Ben), Close, D. (David), Petrovski, S. (Slave), Karlsson, A. (Antti), Schleutker, J. (Johanna), Pulkki, K. (Kari), Virolainen, P. (Petri), Kallio, L. (Lila), Mannermaa, A. (Arto), Heikkinen, S. (Sami), Kosma, V.-M. (Veli-Matti), Chen, C.-Y. (Chia-Yen), Runz, H. (Heiko), Liu, J. (Jimmy), Bronson, P. (Paola), John, S. (Sally), Landenpera, S. (Sanni), Eaton, S. (Susan), Zhou, W. (Wei), Hendolin, M. (Minna), Tuovila, O. (Outi), Pakkanen, R. (Raimo), Maranville, J. (Joseph), Usiskin, K. (Keith), Hochfeld, M. (Marla), Plenge, R. (Robert), Yang, R. (Robert), Biswas, S. (Shameek), Greenberg, S. (Steven), Laakkonen, E. (Eija), Kononen, J. (Juha), Paloneva, J. (Juha), Kujala, U. (Urho), Kuopio, T. (Teijo), Laukkanen, J. (Jari), Kangasniemi, E. (Eeva), Savinainen, K. (Kimmo), Laaksonen, R. (Reijo), Arvas, M. (Mikko), Ritari, J. (Jarmo), Partanen, J. (Jukka), Hyvarinen, K. (Kati), Wahlfors, T. (Tiina), Peterson, A. (Andrew), Oh, D. (Danny), Chang, D. (Diana), Teng, E. (Edmond), Strauss, E. (Erich), Kerchner, G. (Geoff), Chen, H. (Hao), Chen, H. (Hubert), Schutzman, J. (Jennifer), Michon, J. (John), Hunkapiller, J. (Julie), McCarthy, M. (Mark), Bowers, N. (Natalie), Lu, T. (Tim), Bhangale, T. (Tushar), Pulford, D. (David), Waterworth, D. (Dawn), Kulkarni, D. (Diptee), Xu, F. (Fanli), Betts, J. (Jo), Gordillo, J. E. (Jorge Esparza), Hoffman, J. (Joshua), Auro, K. (Kirsi), McCarthy, L. (Linda), Ghosh, S. (Soumitra), Ehm, M. (Meg), Pitkanen, K. (Kimmo), Makela, T. (Tomi), Loukola, A. (Anu), Joensuu, H. (Heikki), Sinisalo, J. (Juha), Eklund, K. (Kari), Aaltonen, L. (Lauri), Farkkila, M. (Martti), Carpen, O. (Olli), Kauppi, P. (Paula), Tienari, P. (Pentti), Ollila, T. (Terhi), Tuomi, T. (Tiinamaija), Meretoja, T. (Tuomo), Pitkaranta, A. (Anne), Turunen, J. (Joni), Hannula-Jouppi, K. (Katariina), Pikkarainen, S. (Sampsa), Seitsonen, S. (Sanna), Koskinen, M. (Miika), Palomaki, A. (Antti), Rinne, J. (Juha), Metsarinne, K. (Kaj), Elenius, K. (Klaus), Pirila, L. (Laura), Koulu, L. (Leena), Voutilainen, M. (Markku), Juonala, M. (Markus), Peltonen, S. (Sirkku), Aaltonen, V. (Vesa), Loboda, A. (Andrey), Podgornaia, A. (Anna), Chhibber, A. (Aparna), Chu, A. (Audrey), Fox, C. (Caroline), Diogo, D. (Dorothee), Holzinger, E. (Emily), Eicher, J. (John), Gormley, P. (Padhraig), Mehta, V. (Vinay), Wang, X. (Xulong), Kettunen, J. (Johannes), Pylkas, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Hinttala, R. (Reetta), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Mantere, T. (Tuomo), Remes, A. (Anne), Huhtakangas, J. (Johanna), Junttila, J. (Juhani), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Luodonpaa, M. (Marja), Hautala, N. (Nina), Karihtala, P. (Peeter), Kauppila, S. (Saila), Harju, T. (Terttu), Blomster, T. (Timo), Soininen, H. (Hilkka), Harvima, I. (Ilkka), Pihlajamaki, J. (Jussi), Kaarniranta, K. (Kai), Pelkonen, M. (Margit), Laakso, M. (Markku), Hiltunen, M. (Mikko), Kiviniemi, M. (Mikko), Kaipiainen-Seppanen, O. (Oili), Auvinen, P. (Paivi), Kalviainen, R. (Reetta), Julkunen, V. (Valtteri), Malarstig, A. (Anders), Hedman, A. (Asa), Marshal, C. (Catherine), Whelan, C. (Christopher), Lehtonen, H. (Heli), Parkkinen, J. (Jaakko), Linden, K. (Kari), Kalpala, K. (Kirsi), Miller, M. (Melissa), Bing, N. (Nan), McDonough, S. (Stefan), Chen, X. (Xing), Hu, X. (Xinli), Wu, Y. (Ying), Auranen, A. (Annika), Jussila, A. (Airi), Uusitalo-Jarvinen, H. (Hannele), Kankaanranta, H. (Hannu), Uusitalo, H. (Hannu), Peltola, J. (Jukka), Kahonen, M. (Mika), Isomaki, P. (Pia), Laitinen, T. (Tarja), Salmi, T. (Teea), Muslin, A. (Anthony), Wang, C. (Clarence), Chatelain, C. (Clement), Xu, E. (Ethan), Auge, F. (Franck), Call, K. (Kathy), Klinger, K. (Kathy), Crohns, M. (Marika), Gossel, M. (Matthias), Palin, K. (Kimmo), Rivas, M. (Manuel), Siirtola, H. (Harri), and Tabuenca, J. G. (Javier Gracia)
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lipids (amino acids, peptides, and proteins) - Abstract
Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P
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- 2019
33. The effect of combining intermittent hemodiafiltration with forced alkaline diuresis on plasma myoglobin in rhabdomyolysis
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Peltonen, S., Åhlström, A., Kylävainio, V., Honkanen, E., and Pettilä, V.
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- 2007
34. Tight junction components occludin, ZO-1, and claudin-1, -4 and -5 in active and healing psoriasis
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Peltonen, S., Riehokainen, J., Pummi, K., and Peltonen, J.
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- 2007
35. Claudin-5 is Expressed in Human Epidermis
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Peltonen, S, Riehokainen, J, Pummi, K, and Peltonen, J
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- 2006
36. Tear fluid levels of MMP-8 in ocular rosacea: 324-07
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Kari, O, Määtta, M, Tervahartiala, T, Peltonen, S, Kari, M, Saari, M, and Sorsa, T
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- 2006
37. Group IIA phospholipase A2 content of tears in patients with atopic blepharoconjunctivitis and ocular rosacea: 324-01
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Kari, O, Aho, V, Peuravuori, H, Peltonen, S, Saari, J, Määtta, M, Collan, Y, and Saari, M
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- 2006
38. Keratinocytes cultured from patients with Hailey–Hailey disease and Darier disease display distinct patterns of calcium regulation
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Leinonen, P. T., Myllylä, R. M., Hägg, P. M., Tuukkanen, J., Koivunen, J., Peltonen, S., Oikarinen, A., Korkiamäki, T., and Peltonen, J.
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- 2005
39. Genetic architecture of human plasma lipidome and its link to cardiovascular disease
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Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, Tabuenca, JG, Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, and Tabuenca, JG
- Abstract
Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10-8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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- 2019
40. IgE-binding components of cultured human keratinocytes in atopic eczema/dermatitis syndrome and their crossreactivity with Malassezia furfur
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Kortekangas-Savolainen, O., Peltonen, S., Pummi, K., Kalimo, K., and Savolainen, J.
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- 2004
41. Immunohistological distribution of the tight junction components ZO-1 and occludin in regenerating human epidermis
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MALMINEN, M., KOIVUKANGAS, V., PELTONEN, J., KARVONEN, S-L., OIKARINEN, A., and PELTONEN, S.
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- 2003
42. Plasma exchange in severe postpartum HELLP syndrome
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FÖRSTER, J. G., PELTONEN, S., KAAJA, R., LAMPINEN, K., and PETTILÄ, V.
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- 2002
43. 503 p53-regulated long non-coding RNA PRECSIT promotes progression of cutaneous squamous cell carcinoma via STAT3 signaling
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Piipponen, M., primary, Nissinen, L., additional, Riihilä, P., additional, Farshchian, M., additional, Kallajoki, M., additional, Peltonen, J., additional, Peltonen, S., additional, and Kähäri, V., additional
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- 2019
- Full Text
- View/download PDF
44. LB1084 Developing uniform datasets for tissue based studies of cutaneous neurofibromas
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Verma, S., primary, Gosline, S., additional, Peltonen, S., additional, Peltonen, J., additional, Soragni, A., additional, Wallace, P., additional, Le, L., additional, Topilko, P., additional, Gutmann, D., additional, Anastasaki, C., additional, Mattingly, R., additional, Serra, E., additional, Lee, G., additional, Knight, P., additional, LaRosa, S., additional, Bakker, A., additional, and Blakeley, J., additional
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- 2019
- Full Text
- View/download PDF
45. Tumour‐cell‐derived complement components C1r and C1s promote growth of cutaneous squamous cell carcinoma
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Riihilä, P., primary, Viiklepp, K., additional, Nissinen, L., additional, Farshchian, M., additional, Kallajoki, M., additional, Kivisaari, A., additional, Meri, S., additional, Peltonen, J., additional, Peltonen, S., additional, and Kähäri, V.‐M., additional
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- 2019
- Full Text
- View/download PDF
46. Tumor cell-specific AIM2 regulates growth and invasion of cutaneous squamous cell carcinoma
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Farshchian, M., Nissinen, L., Siljamaki, E., Riihila, P., Piipponen, M., Kivisaari, A., Kallajoki, M., Grenman, R., Peltonen, J., Peltonen, S., Quint, K.D., Bavinck, J.N.B., and Kahari, V.M.
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Keratinocytes ,skin ,Skin Neoplasms ,Cell Survival ,Inflammasomes ,Gene Expression Profiling ,Cell Cycle ,AIM2 ,keratinocyte ,DNA-Binding Proteins ,Gene Expression Regulation, Neoplastic ,Disease Models, Animal ,Cell Movement ,inflammasome ,Cell Line, Tumor ,Gene Knockdown Techniques ,Carcinoma, Squamous Cell ,Animals ,Heterografts ,Humans ,cancer ,RNA, Messenger ,Research Paper ,Cell Proliferation - Abstract
Cutaneous squamous cell carcinoma (cSCC) is the most common metastatic skin cancer. Inflammation is a typical feature in cSCC progression. Analysis of the expression of inflammasome components in cSCC cell lines and normal human epidermal keratinocytes revealed upregulation of the expression of AIM2 mRNA and protein in cSCC cells. Elevated levels of AIM2 mRNA were noted in cSCCs in vivo compared with normal skin. Strong and moderate tumor cell specific expression of AIM2 was detected with immunohistochemistry (IHC) in sporadic human cSCCs in vivo, whereas expression of AIM2 was moderate in cSCC in situ (cSCCIS) and low or absent in actinic keratosis (AK) and normal skin. IHC of cSCCs, cSCCIS and AKs from organ transplant recipients also revealed strong and moderate tumor cell specific expression of AIM2 in cSCCs. Knockdown of AIM2 resulted in reduction in viability of cSCC cells and onset of apoptosis. RNA-seq and pathway analysis after knockdown of AIM2 in cSCC cells revealed downregulation of the biofunction category Cell cycle and upregulation of the biofunction category Cell Death and Survival. Knockdown of AIM2 also resulted in reduction in invasion of cSCC cells and downregulation in production of invasion proteinases MMP1 and MMP13. Knockdown of AIM2 resulted in suppression of growth and vascularization of cSCC xenografts in vivo. These results provide evidence for the role of AIM2 in the progression of cSCC and identify AIM2 inflammasome function as a potential therapeutic target in these invasive and metastatic tumors.
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- 2017
47. Complement Component C3 and Complement Factor B Promote Growth of Cutaneous Squamous Cell Carcinoma
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Riihilä, P. (Pilvi), Nissinen, L. (Liisa), Farshchian, M. (Mehdi), Kallajoki, M. (Markku), Kivisaari, A. (Atte), Meri, S. (Seppo), Grénman, R. (Reidar), Peltonen, S. (Sirkku), Peltonen, J. (Juha), Pihlajaniemi, T. (Taina), Heljasvaara, R. (Ritva), Kähäri, V.-M. (Veli-Matti), Medicum, Seppo Meri / Principal Investigator, and Department of Bacteriology and Immunology
- Subjects
EXPRESSION ,skin ,FACTOR-H ,HUMAN KERATINOCYTES ,FACTOR-I ,alternative pathway ,PROGRESSION ,ALTERNATIVE PATHWAY ,Pathology and Forensic Medicine ,ACTIVATION ,human keratinocytes ,LUNG-CANCER ,expression ,lung-cancer ,factor-I ,tumor microenvironment ,activation ,progression ,3111 Biomedicine ,TUMOR MICROENVIRONMENT ,SKIN ,factor-H - Abstract
Cutaneous squamous cell carcinoma (cSCC) is one of the most common metastatic skin cancers with increasing incidence. We examined the roles of complement component C3 and complement factor B (CFB) in the growth of cSCC. Analysis of cSCC cell lines (n = 8) and normal human epidermal kerati-nocytes (n = 11) with real-time quantitative PCR and Western blotting revealed up-regulation of C3 and CFB expression in cSCC cells. Immunohistochemical staining revealed stronger tumor cell specific Labeling for C3 and CFB in invasive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in cSCC in situ (n = 69), actinic keratoses (n = 63), and normal skin (n = 5). Significant up-regulation of C3 and CFB mRNA expression was noted in chemically induced mouse cSCCs, compared to benign papillomas. Knockdown of C3 and CFB expression inhibited migration and proliferation of cSCC cells and resulted in potent inhibition of extracellular signal regulated kinase 1/2 activation. Knockdown of C3 and CFB markedly inhibited growth of human cSCC xenograft tumors in vivo. These results provide evidence for the rotes of C3 and CFB in the development of cSCC and identify them as biomarkers and potential therapeutic targets in this metastatic skin cancer.
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- 2017
48. Tumour‐cell‐derived complement components C1r and C1s promote growth of cutaneous squamous cell carcinoma.
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Riihilä, P., Viiklepp, K., Nissinen, L., Farshchian, M., Kallajoki, M., Kivisaari, A., Meri, S., Peltonen, J., Peltonen, S., and Kähäri, V.‐M.
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SQUAMOUS cell carcinoma ,ECULIZUMAB ,BIOMARKERS ,ACTINIC keratosis ,POLYMERASE chain reaction ,WESTERN immunoblotting - Abstract
Summary: Background: The incidence of epidermal keratinocyte‐derived cutaneous squamous cell carcinoma (cSCC) is increasing worldwide. Objectives: To study the role of the complement classical pathway components C1q, C1r and C1s in the progression of cSCC. Methods: The mRNA levels of C1Q subunits and C1R and C1S in cSCC cell lines, normal human epidermal keratinocytes, cSCC tumours in vivo and normal skin were analysed with quantitative real‐time polymerase chain reaction. The production of C1r and C1s was determined with Western blotting. The expression of C1r and C1s in tissue samples in vivo was analysed with immunohistochemistry and further investigated in human cSCC xenografts by knocking down C1r and C1s. Results: Significantly elevated C1R and C1S mRNA levels and production of C1r and C1s were detected in cSCC cells, compared with normal human epidermal keratinocytes. The mRNA levels of C1R and C1S were markedly elevated in cSCC tumours in vivo compared with normal skin. Abundant expression of C1r and C1s by tumour cells was detected in invasive sporadic cSCCs and recessive dystrophic epidermolysis bullosa‐associated cSCCs, whereas the expression of C1r and C1s was lower in cSCC in situ, actinic keratosis and normal skin. Knockdown of C1r and C1s expression in cSCC cells inhibited activation of extracellular signal‐related kinase 1/2 and Akt, promoted apoptosis of cSCC cells and significantly suppressed growth and vascularization of human cSCC xenograft tumours in vivo. Conclusions: These results provide evidence for the role of tumour‐cell‐derived C1r and C1s in the progression of cSCC and identify them as biomarkers and putative therapeutic targets in cSCC. What's already known about this topic? The incidences of actinic keratosis, cutaneous squamous cell carcinoma (cSCC) in situ and invasive cSCC are increasing globally.Few specific biomarkers for progression of cSCC have been identified, and no biological markers are in clinical use to predict the aggressiveness of actinic keratosis, cSCC in situ and invasive cSCC. What does this study add? Our results provide novel evidence for the role of complement classical pathway components C1r and C1s in the progression of cSCC. What is the translational message? Our results identify complement classical pathway components C1r and C1s as biomarkers and putative therapeutic targets in cSCC. Linked Comment: Kopecki. Br J Dermatol 2020; 182:530–531. Plain language summary available online [ABSTRACT FROM AUTHOR]
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- 2020
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49. 158 Complent components C1r and C1s promote growth of cutaneous squamous cell carcinoma
- Author
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Riihilä, P., primary, Viiklepp, K., additional, Nissinen, L., additional, Farshchian, M., additional, Kallajoki, M., additional, Kivisaari, A., additional, Meri, S., additional, Grénman, R., additional, Peltonen, S., additional, Peltonen, J., additional, and Kähäri, V., additional
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- 2018
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50. 278 Risk of myocardial infarctions is increased in patients with neurofibromatosis type 1
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Peltonen, S., primary, Kallionpää, R., additional, Ylä-Outinen, H., additional, and Peltonen, J., additional
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- 2018
- Full Text
- View/download PDF
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