Author: "Hinttala, Reetta" - Searchworks@Jio Institute Digital Library Search Results

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248 results on '"Hinttala, Reetta"'

1. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

Author: Brouillard, Pascal, Murtomaki, Aino, Leppanen, Veli-Matti, Hyytiainen, Marko, Mestre, Sandrine, Potier, Lucas, Boon, Laurence M., Revencu, Nicole, Greene, Arin, Anisimov, Andrey, Salo, Miia H., Hinttala, Reetta, Eklund, Lauri, Quere, Isabelle, Alitalo, Kari, and Vikkula, Miikka
Subjects: Development and progression, Genetic aspects, Research, Causes of, Health aspects, Protein-tyrosine kinase -- Genetic aspects -- Health aspects, Lymphedema -- Genetic aspects -- Development and progression -- Causes of, Gene mutation -- Research, Medical research, Gene mutations -- Research, Medicine, Experimental, Protein tyrosine kinase -- Genetic aspects -- Health aspects
Abstract: Introduction The pathogenesis of primary lymphedema (PL) results from defective development and/or function of the lymphatic system (ref. 1; reviewed in refs. 2-5). PL is characterized by accumulation of interstitial [...], Primary lymphedema (PL), characterized by tissue swelling, fat accumulation, and fibrosis, results from defects in lymphatic vessels or valves caused by mutations in genes involved in development, maturation, and function of the lymphatic vascular system. Pathogenic variants in various genes have been identified in about 30% of PL cases. By screening of a cohort of 755 individuals with PL, we identified two TIE1 (tyrosine kinase with immunoglobulin- and epidermal growth factor-like domains 1) missense variants and one truncating variant, all predicted to be pathogenic by bioinformatic algorithms. The TIE1 receptor, in complex with TIE2, binds angiopoietins to regulate the formation and remodeling of blood and lymphatic vessels. The premature stop codon mutant encoded an inactive truncated extracellular TIE1 fragment with decreased mRNA stability, and the amino acid substitutions led to decreased TIE1 signaling activity. By reproducing the two missense variants in mouse Tie1 via CRISPR/Cas9, we showed that both cause edema and are lethal in homozygous mice. Thus, our results indicate that TIE1 loss-of-function variants can cause lymphatic dysfunction in patients. Together with our earlier demonstration that ANGPT2 loss-of-function mutations can also cause PL, our results emphasize the important role of the ANGPT2/TIE1 pathway in lymphatic function.
Published: 2024
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2. DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?

Author: Harju, Tekla, Hurme-Niiranen, Anri, Suo-Palosaari, Maria, Nygaard Nielsen, Stine, Hinttala, Reetta, Schmiegelow, Kjeld, Uusimaa, Johanna, Harila, Arja, and Niinimäki, Riitta
Published: 2023
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3. Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Author: Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Viollet, Coralie, Petrovski, Slavé, Chen, Chia-Yen, John, Sally, Okafo, George, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Pendergrass, Rion, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Vlahiotis, Anna, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Waterworth, Dawn, O´Donnell, Chris, Renaud, Nicole, Mäkelä, Tomi P., Kaprio, Jaakko, Ruddock, Minna, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Kristiansson, Kati, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Ding, Zhihao, Jung, Marc, Tuoken, Hanati, Biswas, Shameek, Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Hu, Xinli, Hedman, Åsa, Obeidat, Ma´en, Chung, Jonathan, Zierer, Jonas, Niemi, Mari, Ripatti, Samuli, Schleutker, Johanna, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Bowers, Natalie, Teng, Edmond, Xu, Fanli, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Lu, Tim, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Lertratanakul, Apinya, Hochfeld, Marla, Gordillo, Jorge Esparza, Farias, Fabiana, Bing, Nan, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Chen, Hubert, Betts, Joanna, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Paul, Dirk, Chu, Audrey, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Meretoja, Tuomo, Joensuu, Heikki, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Pitkänen, Esa, Popovic, Relja, Fabre, Margarete, Schutzman, Jennifer, Kulkarni, Diptee, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Liu, Mengzhen, Loomis, Stephanie, Strauss, Erich, Chen, Hao, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Choy, David, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Kumar, Janet, Hovatta, Iiris, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Rahikkala, Elisa, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Lemmelä, Susanna, Rivas, Manuel, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Heyne, Henrike, Rämö, Joel, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Hyvärinen, Kati, Ritari, Jarmo, Pylkäs, Katri, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Punkka, Eero, Siltanen, Sanna, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kanai, Masahiro, Zheng, Zhili, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Donner, Kati, Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Luo, Shuang, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Smith, Sarah, Southerington, Tom, Lehto, Petri, Ryu, Justine, Rämö, Joel T., Jurgens, Sean J., Sanna-Cherchi, Simone, Bauer, Kenneth A., Haj, Amelia, Choi, Seung Hoan, Ellinor, Patrick T., and Bendapudi, Pavan K.
Published: 2024
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4. High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases

Author: Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Paul, Dirk, Petrovski, Slavé, Runz, Heiko, John, Sally, Okafo, George, Lawless, Nathan, Salminen-Mankonen, Heli, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Yang, Robert, ODonnell, Chris, Mäkelä, Tomi P., Kaprio, Jaakko, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Pitkäranta, Anne, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Laitinen, Tarja, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Pakkanen, Raimo, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Ding, Zhihao, Jung, Marc, Biswas, Shameek, Pendergrass, Rion, Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Hu, Xinli, Hedman, Åsa, Rivas, Manuel, Waterworth, Dawn, Renaud, Nicole, Obeidat, Maen, Ripatti, Samuli, Schleutker, Johanna, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Abbasi, Ali, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Lahdenperä, Sanni, Bowers, Natalie, Teng, Edmond, Xu, Fanli, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Lu, Tim, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Lertratanakul, Apinya, Viollet, Coralie, Hochfeld, Marla, Gordillo, Jorge Esparza, Farias, Fabiana, Bing, Nan, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Chen, Hubert, Betts, Joanna, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Chu, Audrey, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Meretoja, Tuomo, Joensuu, Heikki, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Pitkänen, Esa, Popovic, Relja, Fabre, Margarete, Schutzman, Jennifer, Kulkarni, Diptee, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Liu, Mengzhen, Loomis, Stephanie, Strauss, Erich, Chen, Hao, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Choy, David, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Kumar, Janet, Hovatta, Iiris, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Als, Thomas Damm, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Rahikkala, Elisa, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Lemmelä, Susanna, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Heyne, Henrike, Rämö, Joel, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Kristiansson, Kati, Hyvärinen, Kati, Ritari, Jarmo, Pylkäs, Katri, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Punkka, Eero, Siltanen, Sanna, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kanai, Masahiro, Zheng, Zhili, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Donner, Kati, Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Pärn, Kalle, Kals, Mart, Luo, Shuang, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Smith, Sarah, Southerington, Tom, Lehto, Petri, Youssef, Omar, Zidi-Mouaffak, Yossra H.S., and Tamlander, Max
Published: 2024
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5. ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling

Author: Scoyni, Flavia, Sitnikova, Valeriia, Giudice, Luca, Korhonen, Paula, Trevisan, Davide M., Hernandez de Sande, Ana, Gomez-Budia, Mireia, Giniatullina, Raisa, Ugidos, Irene F., Dhungana, Hiramani, Pistono, Cristiana, Korvenlaita, Nea, Välimäki, Nelli-Noora, Kangas, Salla M., Hiltunen, Anniina E., Gribchenko, Emma, Kaikkonen-Määttä, Minna U., Koistinaho, Jari, Ylä-Herttuala, Seppo, Hinttala, Reetta, Venø, Morten T., Su, Junyi, Stoffel, Markus, Schaefer, Anne, Rajewsky, Nikolaus, Kjems, Jørgen, LaPierre, Mary P., Piwecka, Monika, Jolkkonen, Jukka, Giniatullin, Rashid, Hansen, Thomas B., and Malm, Tarja
Published: 2024
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6. FinnGen provides genetic insights from a well-phenotyped isolated population

Author: Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., and Palotie, Aarno
Published: 2023
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7. The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections

Author: Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Paul, Dirk, Petrovski, Slavé, Runz, Heiko, John, Sally, Okafo, George, Lawless, Nathan, Salminen-Mankonen, Heli, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Yang, Robert, O´Donnell, Chris, Mäkelä, Tomi P., Kaprio, Jaakko, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Pitkäranta, Anne, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Laitinen, Tarja, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Pakkanen, Raimo, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Ding, Zhihao, Jung, Marc, Biswas, Shameek, Pendergrass, Rion, Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Hu, Xinli, Hedman, Åsa, Rivas, Manuel, Waterworth, Dawn, Renaud, Nicole, Obeidat, Ma´en, Ripatti, Samuli, Schleutker, Johanna, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Abbasi, Ali, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Lahdenperä, Sanni, Bowers, Natalie, Teng, Edmond, Xu, Fanli, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Lu, Tim, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Lertratanakul, Apinya, Viollet, Coralie, Hochfeld, Marla, Gordillo, Jorge Esparza, Farias, Fabiana, Bing, Nan, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Chen, Hubert, Betts, Joanna, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Chu, Audrey, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Meretoja, Tuomo, Joensuu, Heikki, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Pitkänen, Esa, Popovic, Relja, Fabre, Margarete, Schutzman, Jennifer, Kulkarni, Diptee, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Liu, Mengzhen, Loomis, Stephanie, Strauss, Erich, Chen, Hao, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Choy, David, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Kumar, Janet, Hovatta, Iiris, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Als, Thomas Damm, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Rahikkala, Elisa, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Lemmelä, Susanna, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Heyne, Henrike, Rämö, Joel, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Kristiansson, Kati, Hyvärinen, Kati, Ritari, Jarmo, Pylkäs, Katri, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Punkka, Eero, Siltanen, Sanna, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kanai, Masahiro, Zheng, Zhili, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Donner, Kati, Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Pärn, Kalle, Kals, Mart, Luo, Shuang, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Smith, Sarah, Southerington, Tom, Lehto, Petri, Jones, Samuel E., Maisha, Fahrisa I., Strausz, Satu J., Lammi, Vilma, Cade, Brian E., Tervi, Anniina, Helaakoski, Viola, Broberg, Martin E., Lane, Jacqueline M., Redline, Susan, Saxena, Richa, and Ollila, Hanna M.
Published: 2023
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8. Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

Author: Miller, Eliza C., Kauko, Anni, Tom, Sarah E., Laivuori, Hannele, Niiranen, Teemu, Bello, Natalie A., Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Paul, Dirk, Matakidou, Athena, Platt, Adam, Runz, Heiko, John, Sally, Okafo, George, Lawless, Nathan, Salminen-Mankonen, Heli, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Hunkapiller, Julie, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Fox, Caroline, Mälarstig, Anders, Klinger, Katherine, Raipal, Deepak, Green, Eric, Graham, Robert, Yang, Robert, Donnell, Chris O´, Mäkelä, Tomi P., Kaprio, Jaakko, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Pitkäranta, Anne, Raivio, Taneli, Serpi, Raisa, Laitinen, Tarja, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Pakkanen, Raimo, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Runz, Heiko, Ding, Zhihao, Jung, Marc, Biswas, Shameek, Pendergrass, Rion, Hunkapiller, Julie, Ehm, Margaret G., Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Mälarstig, Anders, Hu, Xinli, Klinger, Katherine, Graham, Robert, Green, Eric, Mozaffari, Sahar, Waterworth, Dawn, Renaud, Nicole, Obeidat, Ma´en, Ripatti, Samuli, Schleutker, Johanna, Perola, Markus, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Laukkanen, Jari, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Abbasi, Ali, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Biswas, Shameek, Hunkapiller, Julie, Bowers, Natalie, Teng, Edmond, Pendergrass, Rion, Xu, Fanli, Pulford, David, Auro, Kirsi, Addis, Laura, Eicher, John, Li, Qingqin S, He, Karen, Khramtsova, Ekaterina, Raghavan, Neha, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Daly, Mark, Abbasi, Ali, Waring, Jeffrey, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Lu, Tim, Bowers, Natalie, Pendergrass, Rion, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Hu, Xinli, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Abbasi, Ali, Waring, Jeffrey, Rahimov, Fedik, Lertratanakul, Apinya, Smaoui, Nizar, Lehtonen, Anne, Hochfeld, Marla, Bowers, Natalie, Pendergrass, Rion, Esparza Gordillo, Jorge, Auro, Kirsi, Waterworth, Dawn, Farias, Fabiana, Kalpala, Kirsi, Bing, Nan, Hu, Xinli, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Smaoui, Nizar, Lassi, Glenda, Eaton, Susan, Chen, Hubert, Pendergrass, Rion, Bowers, Natalie, Betts, Joanna, Auro, Kirsi, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Kähönen, Mika, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Laukkanen, Jari, Elliott, Amanda, Pat Reeve, Mary, Ruotsalainen, Sanni, Challis, Benjamin, Paul, Dirk, Hunkapiller, Julie, Bowers, Natalie, Pendergrass, Rion, Chu, Audrey, Auro, Kirsi, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Miller, Melissa, Meretoja, Tuomo, Joensuu, Heikki, Carpén, Olli, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Elenius, Päivi Auvinen Klaus, Schleutker, Johanna, Pitkänen, Esa, Mars, Nina, Daly, Mark, Popovic, Relja, Waring, Jeffrey, Riley-Gillis, Bridget, Lehtonen, Anne, Schutzman, Jennifer, Hunkapiller, Julie, Bowers, Natalie, Pendergrass, Rion, Kulkarni, Diptee, Auro, Kirsi, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A, Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Pitkänen, Esa, Liu, Mengzhen, Runz, Heiko, Loomis, Stephanie, Strauss, Erich, Bowers, Natalie, Chen, Hao, Pendergrass, Rion, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Choy, David, Pendergrass, Rion, Waterworth, Dawn, Kalpala, Kirsi, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Pendergrass, Rion, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Kettunen, Johannes, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Pat Reeve, Mary, Daly, Mark, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Liu, Mengzhen, Riley-Gillis, Bridget, Pendergrass, Rion, Kumar, Janet, Auro, Kirsi, Hovatta, Iiris, Chen, Chia-Yen, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Damm Als, Thomas, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Salminen, Eveliina, Rahikkala, Elisa, Kettunen, Johannes, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Ripatti, Samuli, Daly, Mark, Karjalainen, Juha, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della, Pietro, Parolo, Briotta, Zhou, Wei, Maasha, Mutaamba, Hassan, Shabbeer, Lemmelä, Susanna, Rivas, Manuel, Niemi, Mari E., Palotie, Aarno, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Tukiainen, Taru, Pat Reeve, Mary, Heyne, Henrike, Mars, Nina, Rämö, Joel, Saarentaus, Elmo, Ollila, Hanna, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Elliott, Amanda, Kristiansson, Kati, Arvas, Mikko, Hyvärinen, Kati, Ritari, Jarmo, Carpén, Olli, Kettunen, Johannes, Pylkäs, Katri, Sliz, Eeva, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Mannermaa, Arto, Laakkonen, Eija, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Terho, Perttu, Soini, Sirpa, Partanen, Jukka, Punkka, Eero, Serpi, Raisa, Siltanen, Sanna, Kosma, Veli-Matti, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Palin, Henna, Linna, Malla-Maria, Kurki, Mitja, Karjalainen, Juha, Della, Pietro, Parolo, Briotta, Lehisto, Arto, Mehtonen, Juha, Zhou, Wei, Kanai, Masahiro, Maasha, Mutaamba, Havulinna, Aki, Lemmelä, Susanna, Kiiskinen, Tuomo, Elisa Lahtela, L., Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Alexander Dada, Oluwaseun, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Ruotsalainen, Sanni, Donner, Kati, Sipilä, Timo P., Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Kristiansson, Kati, Lemmelä, Susanna, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Palta, Priit, Pärn, Kalle, Kals, Mart, Luo, Shuang, Laitinen, Tarja, Pat Reeve, Mary, Sampath Padmanabhuni, Shanmukha, Niemi, Marianna, Siirtola, Harri, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Pitkänen, Jyrki, Hautalahti, Marco, Mäkelä, Johanna, Smith, Sarah, and Southerington, Tom
Published: 2023
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9. Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.

Author: Oikarainen, Jaakko H., Knuutinen, Oula A., Kangas, Salla M., Rahikkala, Elisa J., Pokka, Tytti M.‐L., Moilanen, Jukka S., Hinttala, Reetta M., Vieira, Päivi M., Uusimaa, Johanna M., and Suo‐Palosaari, Maria H.
Subjects: MAGNETIC resonance imaging, LEUKOENCEPHALOPATHIES, CORPUS callosum, WHITE matter (Nerve tissue), GENETIC disorders
Abstract: Aim: To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland. Method: In this retrospective population‐based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis. Results: A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (n = 49, 59%), brainstem signal abnormalities (n = 28, 34%), thinning of the corpus callosum (n = 30, 36%), delayed myelination (n = 11, 13%), and permanent hypomyelination (n = 9, 11%). Interpretation: Symmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood‐onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders. [ABSTRACT FROM AUTHOR]
Published: 2025
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10. NHLRC2 expression is increased in idiopathic pulmonary fibrosis

Author: Kreus, Mervi, Lehtonen, Siri, Hinttala, Reetta, Salonen, Johanna, Porvari, Katja, and Kaarteenaho, Riitta
Published: 2022
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11. Analysis of human brain tissue derived from DBS surgery

Author: Kangas, Salla M., Teppo, Jaakko, Lahtinen, Maija J., Suoranta, Anu, Ghimire, Bishwa, Mattila, Pirkko, Uusimaa, Johanna, Varjosalo, Markku, Katisko, Jani, and Hinttala, Reetta
Published: 2022
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12. Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Author: Kaustio, Meri, Nayebzadeh, Naemeh, Hinttala, Reetta, Tapiainen, Terhi, Åström, Pirjo, Mamia, Katariina, Pernaa, Nora, Lehtonen, Johanna, Glumoff, Virpi, Rahikkala, Elisa, Honkila, Minna, Olsén, Päivi, Hassinen, Antti, Polso, Minttu, Al Sukaiti, Nashat, Al Shekaili, Jalila, Al Kindi, Mahmood, Al Hashmi, Nadia, Almusa, Henrikki, Bulanova, Daria, Haapaniemi, Emma, Chen, Pu, Suo-Palosaari, Maria, Vieira, Päivi, Tuominen, Hannu, Kokkonen, Hannaleena, Al Macki, Nabil, Al Habsi, Huda, Löppönen, Tuija, Rantala, Heikki, Pietiäinen, Vilja, Zhang, Shen-Ying, Renko, Marjo, Hautala, Timo, Al Farsi, Tariq, Uusimaa, Johanna, and Saarela, Janna
Published: 2021
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13. INFRAFRONTIER quality principles in systemic phenotyping

Author: Ehlich, Hilke, Cater, Heather L., Flenniken, Ann M., Goncalves Da Cruz, Isabelle, Mura, Anne-Marie, Ntafis, Vasileios, Raess, Michael, Selloum, Mohammed, Stoeger, Claudia, Suchanova, Sarka, Vuolteenaho, Reetta, Brown, Steve D. M., Hérault, Yann, Hinttala, Reetta, Hrabě de Angelis, Martin, Kollias, George, Kontoyiannis, Dimitris L., Malissen, Bernard, McKerlie, Colin, Sedláček, Radislav, Wells, Sara E., Zarubica, Ana, Rozman, Jan, and Sorg, Tania
Published: 2022
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14. Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Author: Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., and Palotie, Aarno
Published: 2023
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15. Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women

Author: Mars, Nina, primary, Kerminen, Sini, additional, Tamlander, Max, additional, Pirinen, Matti, additional, Jakkula, Eveliina, additional, Aaltonen, Kirsimari, additional, Meretoja, Tuomo, additional, Heinävaara, Sirpa, additional, Widén, Elisabeth, additional, Ripatti, Samuli, additional, Palotie, Aarno, additional, Daly, Mark, additional, Riley-Gills, Bridget, additional, Jacob, Howard, additional, Paul, Dirk, additional, Matakidou, Athena, additional, Platt, Adam, additional, Runz, Heiko, additional, John, Sally, additional, Okafo, George, additional, Lawless, Nathan, additional, Plenge, Robert, additional, Maranville, Joseph, additional, McCarthy, Mark, additional, Hunkapiller, Julie, additional, Ehm, Margaret G., additional, Auro, Kirsi, additional, Longerich, Simonne, additional, Fox, Caroline, additional, Mälarstig, Anders, additional, Klinger, Katherine, additional, Raipal, Deepak, additional, Green, Eric, additional, Graham, Robert, additional, Yang, Robert, additional, O'Donnell, Chris, additional, Mäkelä, Tomi P., additional, Kaprio, Jaakko, additional, Virolainen, Petri, additional, Hakanen, Antti, additional, Kilpi, Terhi, additional, Perola, Markus, additional, Partanen, Jukka, additional, Pitkäranta, Anne, additional, Junttila, Juhani, additional, Serpi, Raisa, additional, Laitinen, Tarja, additional, Kosma, Veli-Matti, additional, Laukkanen, Jari, additional, Hautalahti, Marco, additional, Tuovila, Outi, additional, Pakkanen, Raimo, additional, Waring, Jeffrey, additional, Riley-Gillis, Bridget, additional, Rahimov, Fedik, additional, Tachmazidou, Ioanna, additional, Chen, Chia-Yen, additional, Ding, Zhihao, additional, Jung, Marc, additional, Biswas, Shameek, additional, Pendergrass, Rion, additional, Pulford, David, additional, Raghavan, Neha, additional, Huertas-Vazquez, Adriana, additional, Sul, Jae-Hoon, additional, Hu, Xinli, additional, Mozaffari, Sahar, additional, Waterworth, Dawn, additional, Renaud, Nicole, additional, Obeidat, Ma'en, additional, Schleutker, Johanna, additional, Arvas, Mikko, additional, Carpén, Olli, additional, Hinttala, Reetta, additional, Kettunen, Johannes, additional, Mannermaa, Arto, additional, Aalto-Setälä, Katriina, additional, Kähönen, Mika, additional, Mäkelä, Johanna, additional, Kälviäinen, Reetta, additional, Julkunen, Valtteri, additional, Soininen, Hilkka, additional, Remes, Anne, additional, Hiltunen, Mikko, additional, Peltola, Jukka, additional, Raivio, Minna, additional, Tienari, Pentti, additional, Rinne, Juha, additional, Kallionpää, Roosa, additional, Partanen, Juulia, additional, Abbasi, Ali, additional, Ziemann, Adam, additional, Smaoui, Nizar, additional, Lehtonen, Anne, additional, Eaton, Susan, additional, Lahdenperä, Sanni, additional, Bowers, Natalie, additional, Teng, Edmond, additional, Xu, Fanli, additional, Addis, Laura, additional, Eicher, John, additional, Li, Qingqin S, additional, He, Karen, additional, Khramtsova, Ekaterina, additional, Färkkilä, Martti, additional, Koskela, Jukka, additional, Pikkarainen, Sampsa, additional, Jussila, Airi, additional, Kaukinen, Katri, additional, Blomster, Timo, additional, Kiviniemi, Mikko, additional, Voutilainen, Markku, additional, Lu, Tim, additional, McCarthy, Linda, additional, Hart, Amy, additional, Guan, Meijian, additional, Miller, Jason, additional, Kalpala, Kirsi, additional, Miller, Melissa, additional, Eklund, Kari, additional, Palomäki, Antti, additional, Isomäki, Pia, additional, Pirilä, Laura, additional, Kaipiainen-Seppänen, Oili, additional, Huhtakangas, Johanna, additional, Mars, Nina, additional, Lertratanakul, Apinya, additional, Close, David, additional, Hochfeld, Marla, additional, Gordillo, Jorge Esparza, additional, Farias, Fabiana, additional, Bing, Nan, additional, Pelkonen, Margit, additional, Kauppi, Paula, additional, Kankaanranta, Hannu, additional, Harju, Terttu, additional, Lahesmaa, Riitta, additional, Mackay, Alex, additional, Lassi, Glenda, additional, Chen, Hubert, additional, Betts, Joanna, additional, Mishra, Rajashree, additional, Mouded, Majd, additional, Ngo, Debby, additional, Niiranen, Teemu, additional, Vaura, Felix, additional, Salomaa, Veikko, additional, Metsärinne, Kaj, additional, Aittokallio, Jenni, additional, Hernesniemi, Jussi, additional, Gordin, Daniel, additional, Sinisalo, Juha, additional, Taskinen, Marja-Riitta, additional, Tuomi, Tiinamaija, additional, Hiltunen, Timo, additional, Elliott, Amanda, additional, Reeve, Mary Pat, additional, Ruotsalainen, Sanni, additional, Challis, Benjamin, additional, Chu, Audrey, additional, Reilly, Dermot, additional, Mendelson, Mike, additional, Parkkinen, Jaakko, additional, Joensuu, Heikki, additional, Mattson, Johanna, additional, Salminen, Eveliina, additional, Auranen, Annika, additional, Karihtala, Peeter, additional, Auvinen, Päivi, additional, Elenius, Klaus, additional, Pitkänen, Esa, additional, Popovic, Relja, additional, Schutzman, Jennifer, additional, Kulkarni, Diptee, additional, Porello, Alessandro, additional, Loboda, Andrey, additional, Lehtonen, Heli, additional, McDonough, Stefan, additional, Vuoti, Sauli, additional, Kaarniranta, Kai, additional, Turunen, Joni A, additional, Ollila, Terhi, additional, Uusitalo, Hannu, additional, Karjalainen, Juha, additional, Liu, Mengzhen, additional, Loomis, Stephanie, additional, Strauss, Erich, additional, Chen, Hao, additional, Tasanen, Kaisa, additional, Huilaja, Laura, additional, Hannula-Jouppi, Katariina, additional, Salmi, Teea, additional, Peltonen, Sirkku, additional, Koulu, Leena, additional, Choy, David, additional, Wu, Ying, additional, Pussinen, Pirkko, additional, Salminen, Aino, additional, Salo, Tuula, additional, Rice, David, additional, Nieminen, Pekka, additional, Palotie, Ulla, additional, Siponen, Maria, additional, Suominen, Liisa, additional, Mäntylä, Päivi, additional, Gursoy, Ulvi, additional, Anttonen, Vuokko, additional, Sipilä, Kirsi, additional, Laivuori, Hannele, additional, Kurra, Venla, additional, Kotaniemi-Talonen, Laura, additional, Heikinheimo, Oskari, additional, Kalliala, Ilkka, additional, Aaltonen, Lauri, additional, Jokimaa, Varpu, additional, Vääräsmäki, Marja, additional, Uimari, Outi, additional, Morin-Papunen, Laure, additional, Niinimäki, Maarit, additional, Piltonen, Terhi, additional, Kivinen, Katja, additional, Widen, Elisabeth, additional, Tukiainen, Taru, additional, Välimäki, Niko, additional, Laakkonen, Eija, additional, Tyrmi, Jaakko, additional, Silven, Heidi, additional, Sliz, Eeva, additional, Arffman, Riikka, additional, Savukoski, Susanna, additional, Laisk, Triin, additional, Pujol, Natalia, additional, Kumar, Janet, additional, Hovatta, Iiris, additional, Isometsä, Erkki, additional, Veerapen, Kumar, additional, Ollila, Hanna, additional, Suvisaari, Jaana, additional, Als, Thomas Damm, additional, Mäkitie, Antti, additional, Bizaki-Vallaskangas, Argyro, additional, Toppila-Salmi, Sanna, additional, Willberg, Tytti, additional, Saarentaus, Elmo, additional, Aarnisalo, Antti, additional, Rahikkala, Elisa, additional, Aittomäki, Kristiina, additional, Åberg, Fredrik, additional, Kurki, Mitja, additional, Havulinna, Aki, additional, Mehtonen, Juha, additional, Palta, Priit, additional, Hassan, Shabbeer, additional, Della Briotta Parolo, Pietro, additional, Zhou, Wei, additional, Maasha, Mutaamba, additional, Lemmelä, Susanna, additional, Rivas, Manuel, additional, Niemi, Mari E., additional, Liu, Aoxing, additional, Lehisto, Arto, additional, Ganna, Andrea, additional, Llorens, Vincent, additional, Heyne, Henrike, additional, Rämö, Joel, additional, Rodosthenous, Rodos, additional, Strausz, Satu, additional, Palotie, Tuula, additional, Palin, Kimmo, additional, Garcia-Tabuenca, Javier, additional, Siirtola, Harri, additional, Kiiskinen, Tuomo, additional, Lee, Jiwoo, additional, Tsuo, Kristin, additional, Kristiansson, Kati, additional, Hyvärinen, Kati, additional, Ritari, Jarmo, additional, Pylkäs, Katri, additional, Karjalainen, Minna, additional, Mantere, Tuomo, additional, Kangasniemi, Eeva, additional, Heikkinen, Sami, additional, Pitkänen, Nina, additional, Lessard, Samuel, additional, Chatelain, Clément, additional, Terho, Perttu, additional, Soini, Sirpa, additional, Punkka, Eero, additional, Siltanen, Sanna, additional, Kuopio, Teijo, additional, Jalanko, Anu, additional, Shen, Huei-Yi, additional, Kajanne, Risto, additional, Aavikko, Mervi, additional, Kanai, Masahiro, additional, Lahtela, L. Elisa, additional, Kaunisto, Mari, additional, Kilpeläinen, Elina, additional, Sipilä, Timo P., additional, Dada, Oluwaseun Alexander, additional, Ghazal, Awaisa, additional, Kytölä, Anastasia, additional, Weldatsadik, Rigbe, additional, Donner, Kati, additional, Loukola, Anu, additional, Laiho, Päivi, additional, Sistonen, Tuuli, additional, Kaiharju, Essi, additional, Laukkanen, Markku, additional, Järvensivu, Elina, additional, Lähteenmäki, Sini, additional, Männikkö, Lotta, additional, Wong, Regis, additional, Toivola, Auli, additional, Brunfeldt, Minna, additional, Mattsson, Hannele, additional, Koskelainen, Sami, additional, Hiekkalinna, Tero, additional, Paajanen, Teemu, additional, Pärn, Kalle, additional, Kals, Mart, additional, Luo, Shuang, additional, Sinha, Vishal, additional, Niemi, Marianna, additional, Gracia-Tabuenca, Javier, additional, Helminen, Mika, additional, Luukkaala, Tiina, additional, Vähätalo, Iida, additional, Pitkänen, Jyrki, additional, Smith, Sarah, additional, and Southerington, Tom, additional
Published: 2024
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16. A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

Author: Järvelä, Viivi, primary, Hamze, Mira, additional, Komulainen-Ebrahim, Jonna, additional, Rahikkala, Elisa, additional, Piispala, Johanna, additional, Kallio, Mika, additional, Kangas, Salla M., additional, Nickl, Tereza, additional, Huttula, Marko, additional, Hinttala, Reetta, additional, Uusimaa, Johanna, additional, Medina, Igor, additional, and Immonen, Esa-Ville, additional
Published: 2024
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17. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Author: Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, and Uusimaa, Johanna
Published: 2019
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18. Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function.

Author: Mansikkala, Tuomas, Kangas, Salla M., Miinalainen, Ilkka, Angervaniva, Pia, Darin, Niklas, Blomqvist, Maria, Hinttala, Reetta, Huttula, Marko, Uusimaa, Johanna, and Patanen, Minna
Published: 2024
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19. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Author: Komulainen‐Ebrahim, Jonna, Kangas, Salla M., López‐Martín, Estrella, Feyma, Timothy, Scaglia, Fernando, Martínez‐Delgado, Beatriz, Kuismin, Outi, Suo‐Palosaari, Maria, Carr, Lucinda, Hinttala, Reetta, Kurian, Manju A., and Uusimaa, Johanna
Subjects: MOVEMENT disorders, MISSENSE mutation, ATTENTION-deficit hyperactivity disorder, MITOCHONDRIAL proteins, OXIDATIVE phosphorylation, CELL physiology
Abstract: Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens‐associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Objectives: The objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level. Methods: The movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient‐derived fibroblasts. Results: All patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient. Conclusions: The movement disorder is a prominent feature of NACC1‐related disease. [ABSTRACT FROM AUTHOR]
Published: 2024
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20. Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Author: Ryu, Justine, Rämö, Joel T., Jurgens, Sean J., Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Viollet, Coralie, Petrovski, Slavé, Chen, Chia-Yen, John, Sally, Okafo, George, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Pendergrass, Rion, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Vlahiotis, Anna, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Waterworth, Dawn, O´Donnell, Chris, Renaud, Nicole, Mäkelä, Tomi P., Kaprio, Jaakko, Ruddock, Minna, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Kristiansson, Kati, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Chen, Chia-Yen, Ding, Zhihao, Jung, Marc, Tuoken, Hanati, Biswas, Shameek, Pendergrass, Rion, Ehm, Margaret G., Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Mälarstig, Anders, Hu, Xinli, Hedman, Åsa, Klinger, Katherine, Graham, Robert, Waterworth, Dawn, Renaud, Nicole, Obeidat, Ma´en, Chung, Jonathan, Zierer, Jonas, Niemi, Mari, Ripatti, Samuli, Schleutker, Johanna, Perola, Markus, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Laukkanen, Jari, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Biswas, Shameek, Bowers, Natalie, Teng, Edmond, Pendergrass, Rion, Xu, Fanli, Pulford, David, Auro, Kirsi, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Raghavan, Neha, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Daly, Mark, Waring, Jeffrey, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Lu, Tim, Bowers, Natalie, Pendergrass, Rion, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Hu, Xinli, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Waring, Jeffrey, Rahimov, Fedik, Lertratanakul, Apinya, Smaoui, Nizar, Lehtonen, Anne, Viollet, Coralie, Hochfeld, Marla, Bowers, Natalie, Pendergrass, Rion, Gordillo, Jorge Esparza, Auro, Kirsi, Waterworth, Dawn, Farias, Fabiana, Kalpala, Kirsi, Bing, Nan, Hu, Xinli, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Smaoui, Nizar, Viollet, Coralie, Eaton, Susan, Chen, Hubert, Pendergrass, Rion, Bowers, Natalie, Betts, Joanna, Auro, Kirsi, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Kähönen, Mika, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Laukkanen, Jari, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Paul, Dirk, Bowers, Natalie, Pendergrass, Rion, Chu, Audrey, Auro, Kirsi, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Miller, Melissa, Meretoja, Tuomo, Joensuu, Heikki, Carpén, Olli, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Schleutker, Johanna, Pitkänen, Esa, Mars, Nina, Daly, Mark, Popovic, Relja, Waring, Jeffrey, Riley-Gillis, Bridget, Lehtonen, Anne, Fabre, Margarete, Schutzman, Jennifer, Bowers, Natalie, Pendergrass, Rion, Kulkarni, Diptee, Auro, Kirsi, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Pitkänen, Esa, Liu, Mengzhen, Runz, Heiko, Loomis, Stephanie, Strauss, Erich, Bowers, Natalie, Chen, Hao, Pendergrass, Rion, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Smaoui, Nizar, Rahimov, Fedik, Lehtonen, Anne, Choy, David, Pendergrass, Rion, Waterworth, Dawn, Kalpala, Kirsi, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Pendergrass, Rion, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Kettunen, Johannes, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Reeve, Mary Pat, Daly, Mark, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Liu, Mengzhen, Riley-Gillis, Bridget, Pendergrass, Rion, Kumar, Janet, Auro, Kirsi, Hovatta, Iiris, Chen, Chia-Yen, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Salminen, Eveliina, Rahikkala, Elisa, Kettunen, Johannes, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Ripatti, Samuli, Daly, Mark, Karjalainen, Juha, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Hassan, Shabbeer, Lemmelä, Susanna, Rivas, Manuel, Palotie, Aarno, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Laivuori, Hannele, Tukiainen, Taru, Reeve, Mary Pat, Heyne, Henrike, Mars, Nina, Rämö, Joel, Saarentaus, Elmo, Ollila, Hanna, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Elliott, Amanda, Kristiansson, Kati, Arvas, Mikko, Hyvärinen, Kati, Ritari, Jarmo, Carpén, Olli, Kettunen, Johannes, Pylkäs, Katri, Sliz, Eeva, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Mannermaa, Arto, Laakkonen, Eija, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Partanen, Jukka, Punkka, Eero, Serpi, Raisa, Siltanen, Sanna, Kosma, Veli-Matti, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kurki, Mitja, Karjalainen, Juha, Della Briotta Parolo, Pietro, Lehisto, Arto, Mehtonen, Juha, Zhou, Wei, Kanai, Masahiro, Maasha, Mutaamba, Zheng, Zhili, Laivuori, Hannele, Havulinna, Aki, Lemmelä, Susanna, Kiiskinen, Tuomo, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Ruotsalainen, Sanni, Donner, Kati, Sipilä, Timo P., Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Kristiansson, Kati, Lemmelä, Susanna, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Palta, Priit, Luo, Shuang, Laitinen, Tarja, Reeve, Mary Pat, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Siirtola, Harri, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Hautalahti, Marco, Mäkelä, Johanna, Smith, Sarah, Southerington, Tom, Lehto, Petri, Niiranen, Teemu, Sanna-Cherchi, Simone, Bauer, Kenneth A., Haj, Amelia, Choi, Seung Hoan, Palotie, Aarno, Daly, Mark, Ellinor, Patrick T., and Bendapudi, Pavan K.
Abstract: •Population-scale genomics (N = 937 939) allowed assembly of a large FVL/PTGM double-heterozygous cohort while mitigating ascertainment bias.•FVL/PTGM DH appeared to be more common than FVL homozygosity and conferred a similar risk of venous thrombosis.
Published: 2024
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21. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

Author: Hiltunen, Anniina E., Kangas, Salla M., Ohlmeier, Steffen, Pietilä, Ilkka, Hiltunen, Jori, Tanila, Heikki, McKerlie, Colin, Govindan, Subashika, Tuominen, Hannu, Kaarteenaho, Riitta, Hallman, Mikko, Uusimaa, Johanna, and Hinttala, Reetta
Published: 2020
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22. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Author: Uusimaa, Johanna, Kaarteenaho, Riitta, Paakkola, Teija, Tuominen, Hannu, Karjalainen, Minna K., Nadaf, Javad, Varilo, Teppo, Uusi-Mäkelä, Meri, Suo-Palosaari, Maria, Pietilä, Ilkka, Hiltunen, Anniina E., Ruddock, Lloyd, Alanen, Heli, Biterova, Ekaterina, Miinalainen, Ilkka, Salminen, Annamari, Soininen, Raija, Manninen, Aki, Sormunen, Raija, Kaakinen, Mika, Vuolteenaho, Reetta, Herva, Riitta, Vieira, Päivi, Dunder, Teija, Kokkonen, Hannaleena, Moilanen, Jukka S., Rantala, Heikki, Nogee, Lawrence M., Majewski, Jacek, Rämet, Mika, Hallman, Mikko, and Hinttala, Reetta
Published: 2018
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23. Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Author: Hautakangas, Milla‐Riikka, primary, Widgren, Paula, additional, Korpelainen, Paavo, additional, Kangas, Salla M., additional, Komulainen, Tuomas, additional, Vieira, Päivi, additional, Rahikkala, Elisa, additional, Pylkäs, Katri, additional, Tuominen, Hannu, additional, Kokkonen, Hannaleena, additional, Miinalainen, Ilkka, additional, Nadaf, Javad, additional, Majewski, Jacek, additional, Hinttala, Reetta, additional, and Uusimaa, Johanna, additional
Published: 2023
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24. The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections

Author: Jones, Samuel E., primary, Maisha, Fahrisa I., additional, Strausz, Satu J., additional, Lammi, Vilma, additional, Cade, Brian E., additional, Tervi, Anniina, additional, Helaakoski, Viola, additional, Broberg, Martin E., additional, Lane, Jacqueline M., additional, Redline, Susan, additional, Saxena, Richa, additional, Ollila, Hanna M., additional, Palotie, Aarno, additional, Daly, Mark, additional, Riley-Gills, Bridget, additional, Jacob, Howard, additional, Paul, Dirk, additional, Petrovski, Slavé, additional, Runz, Heiko, additional, John, Sally, additional, Okafo, George, additional, Lawless, Nathan, additional, Salminen-Mankonen, Heli, additional, Plenge, Robert, additional, Maranville, Joseph, additional, McCarthy, Mark, additional, Ehm, Margaret G., additional, Auro, Kirsi, additional, Longerich, Simonne, additional, Mälarstig, Anders, additional, Klinger, Katherine, additional, Chatelain, Clement, additional, Gossel, Matthias, additional, Estrada, Karol, additional, Graham, Robert, additional, Yang, Robert, additional, O´Donnell, Chris, additional, Mäkelä, Tomi P., additional, Kaprio, Jaakko, additional, Virolainen, Petri, additional, Hakanen, Antti, additional, Kilpi, Terhi, additional, Perola, Markus, additional, Partanen, Jukka, additional, Pitkäranta, Anne, additional, Raivio, Taneli, additional, Tikkanen, Jani, additional, Serpi, Raisa, additional, Laitinen, Tarja, additional, Kosma, Veli-Matti, additional, Laukkanen, Jari, additional, Hautalahti, Marco, additional, Tuovila, Outi, additional, Pakkanen, Raimo, additional, Waring, Jeffrey, additional, Riley-Gillis, Bridget, additional, Rahimov, Fedik, additional, Tachmazidou, Ioanna, additional, Chen, Chia-Yen, additional, Ding, Zhihao, additional, Jung, Marc, additional, Biswas, Shameek, additional, Pendergrass, Rion, additional, Pulford, David, additional, Raghavan, Neha, additional, Huertas-Vazquez, Adriana, additional, Sul, Jae-Hoon, additional, Hu, Xinli, additional, Hedman, Åsa, additional, Rivas, Manuel, additional, Waterworth, Dawn, additional, Renaud, Nicole, additional, Obeidat, Ma´en, additional, Ripatti, Samuli, additional, Schleutker, Johanna, additional, Arvas, Mikko, additional, Carpén, Olli, additional, Hinttala, Reetta, additional, Kettunen, Johannes, additional, Mannermaa, Arto, additional, Aalto-Setälä, Katriina, additional, Kähönen, Mika, additional, Mäkelä, Johanna, additional, Kälviäinen, Reetta, additional, Julkunen, Valtteri, additional, Soininen, Hilkka, additional, Remes, Anne, additional, Hiltunen, Mikko, additional, Peltola, Jukka, additional, Raivio, Minna, additional, Tienari, Pentti, additional, Rinne, Juha, additional, Kallionpää, Roosa, additional, Partanen, Juulia, additional, Abbasi, Ali, additional, Ziemann, Adam, additional, Smaoui, Nizar, additional, Lehtonen, Anne, additional, Eaton, Susan, additional, Lahdenperä, Sanni, additional, Bowers, Natalie, additional, Teng, Edmond, additional, Xu, Fanli, additional, Addis, Laura, additional, Eicher, John, additional, Li, Qingqin S., additional, He, Karen, additional, Khramtsova, Ekaterina, additional, Färkkilä, Martti, additional, Koskela, Jukka, additional, Pikkarainen, Sampsa, additional, Jussila, Airi, additional, Kaukinen, Katri, additional, Blomster, Timo, additional, Kiviniemi, Mikko, additional, Voutilainen, Markku, additional, Lu, Tim, additional, McCarthy, Linda, additional, Hart, Amy, additional, Guan, Meijian, additional, Miller, Jason, additional, Kalpala, Kirsi, additional, Miller, Melissa, additional, Eklund, Kari, additional, Palomäki, Antti, additional, Isomäki, Pia, additional, Pirilä, Laura, additional, Kaipiainen-Seppänen, Oili, additional, Huhtakangas, Johanna, additional, Mars, Nina, additional, Lertratanakul, Apinya, additional, Viollet, Coralie, additional, Hochfeld, Marla, additional, Gordillo, Jorge Esparza, additional, Farias, Fabiana, additional, Bing, Nan, additional, Pelkonen, Margit, additional, Kauppi, Paula, additional, Kankaanranta, Hannu, additional, Harju, Terttu, additional, Lahesmaa, Riitta, additional, Chen, Hubert, additional, Betts, Joanna, additional, Mishra, Rajashree, additional, Mouded, Majd, additional, Ngo, Debby, additional, Niiranen, Teemu, additional, Vaura, Felix, additional, Salomaa, Veikko, additional, Metsärinne, Kaj, additional, Aittokallio, Jenni, additional, Hernesniemi, Jussi, additional, Gordin, Daniel, additional, Sinisalo, Juha, additional, Taskinen, Marja-Riitta, additional, Tuomi, Tiinamaija, additional, Hiltunen, Timo, additional, Elliott, Amanda, additional, Reeve, Mary Pat, additional, Ruotsalainen, Sanni, additional, Chu, Audrey, additional, Reilly, Dermot, additional, Mendelson, Mike, additional, Parkkinen, Jaakko, additional, Meretoja, Tuomo, additional, Joensuu, Heikki, additional, Mattson, Johanna, additional, Salminen, Eveliina, additional, Auranen, Annika, additional, Karihtala, Peeter, additional, Auvinen, Päivi, additional, Elenius, Klaus, additional, Pitkänen, Esa, additional, Popovic, Relja, additional, Fabre, Margarete, additional, Schutzman, Jennifer, additional, Kulkarni, Diptee, additional, Porello, Alessandro, additional, Loboda, Andrey, additional, Lehtonen, Heli, additional, McDonough, Stefan, additional, Vuoti, Sauli, additional, Kaarniranta, Kai, additional, Turunen, Joni A., additional, Ollila, Terhi, additional, Uusitalo, Hannu, additional, Karjalainen, Juha, additional, Liu, Mengzhen, additional, Loomis, Stephanie, additional, Strauss, Erich, additional, Chen, Hao, additional, Tasanen, Kaisa, additional, Huilaja, Laura, additional, Hannula-Jouppi, Katariina, additional, Salmi, Teea, additional, Peltonen, Sirkku, additional, Koulu, Leena, additional, Choy, David, additional, Wu, Ying, additional, Pussinen, Pirkko, additional, Salminen, Aino, additional, Salo, Tuula, additional, Rice, David, additional, Nieminen, Pekka, additional, Palotie, Ulla, additional, Siponen, Maria, additional, Suominen, Liisa, additional, Mäntylä, Päivi, additional, Gursoy, Ulvi, additional, Anttonen, Vuokko, additional, Sipilä, Kirsi, additional, Laivuori, Hannele, additional, Kurra, Venla, additional, Kotaniemi-Talonen, Laura, additional, Heikinheimo, Oskari, additional, Kalliala, Ilkka, additional, Aaltonen, Lauri, additional, Jokimaa, Varpu, additional, Vääräsmäki, Marja, additional, Uimari, Outi, additional, Morin-Papunen, Laure, additional, Niinimäki, Maarit, additional, Piltonen, Terhi, additional, Kivinen, Katja, additional, Widen, Elisabeth, additional, Tukiainen, Taru, additional, Välimäki, Niko, additional, Laakkonen, Eija, additional, Tyrmi, Jaakko, additional, Silven, Heidi, additional, Sliz, Eeva, additional, Arffman, Riikka, additional, Savukoski, Susanna, additional, Laisk, Triin, additional, Pujol, Natalia, additional, Kumar, Janet, additional, Hovatta, Iiris, additional, Isometsä, Erkki, additional, Ollila, Hanna, additional, Suvisaari, Jaana, additional, Als, Thomas Damm, additional, Mäkitie, Antti, additional, Bizaki-Vallaskangas, Argyro, additional, Toppila-Salmi, Sanna, additional, Willberg, Tytti, additional, Saarentaus, Elmo, additional, Aarnisalo, Antti, additional, Rahikkala, Elisa, additional, Aittomäki, Kristiina, additional, Åberg, Fredrik, additional, Kurki, Mitja, additional, Havulinna, Aki, additional, Mehtonen, Juha, additional, Palta, Priit, additional, Hassan, Shabbeer, additional, Della Briotta Parolo, Pietro, additional, Zhou, Wei, additional, Maasha, Mutaamba, additional, Lemmelä, Susanna, additional, Liu, Aoxing, additional, Lehisto, Arto, additional, Ganna, Andrea, additional, Llorens, Vincent, additional, Heyne, Henrike, additional, Rämö, Joel, additional, Rodosthenous, Rodos, additional, Strausz, Satu, additional, Palotie, Tuula, additional, Palin, Kimmo, additional, Garcia-Tabuenca, Javier, additional, Siirtola, Harri, additional, Kiiskinen, Tuomo, additional, Lee, Jiwoo, additional, Tsuo, Kristin, additional, Kristiansson, Kati, additional, Hyvärinen, Kati, additional, Ritari, Jarmo, additional, Pylkäs, Katri, additional, Karjalainen, Minna, additional, Mantere, Tuomo, additional, Kangasniemi, Eeva, additional, Heikkinen, Sami, additional, Pitkänen, Nina, additional, Lessard, Samuel, additional, Chatelain, Clément, additional, Kallio, Lila, additional, Wahlfors, Tiina, additional, Punkka, Eero, additional, Siltanen, Sanna, additional, Kuopio, Teijo, additional, Jalanko, Anu, additional, Shen, Huei-Yi, additional, Kajanne, Risto, additional, Aavikko, Mervi, additional, Leinonen, Rasko, additional, Palin, Henna, additional, Linna, Malla-Maria, additional, Kanai, Masahiro, additional, Zheng, Zhili, additional, Lahtela, L. Elisa, additional, Kaunisto, Mari, additional, Kilpeläinen, Elina, additional, Sipilä, Timo P., additional, Dada, Oluwaseun Alexander, additional, Ghazal, Awaisa, additional, Kytölä, Anastasia, additional, Weldatsadik, Rigbe, additional, Donner, Kati, additional, Loukola, Anu, additional, Laiho, Päivi, additional, Sistonen, Tuuli, additional, Kaiharju, Essi, additional, Laukkanen, Markku, additional, Järvensivu, Elina, additional, Lähteenmäki, Sini, additional, Männikkö, Lotta, additional, Wong, Regis, additional, Toivola, Auli, additional, Brunfeldt, Minna, additional, Mattsson, Hannele, additional, Koskelainen, Sami, additional, Hiekkalinna, Tero, additional, Paajanen, Teemu, additional, Pärn, Kalle, additional, Kals, Mart, additional, Luo, Shuang, additional, Padmanabhuni, Shanmukha Sampath, additional, Niemi, Marianna, additional, Gracia-Tabuenca, Javier, additional, Helminen, Mika, additional, Luukkaala, Tiina, additional, Vähätalo, Iida, additional, Tammerluoto, Jyrki, additional, Smith, Sarah, additional, Southerington, Tom, additional, and Lehto, Petri, additional
Published: 2023
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25. Scanning transmission soft X-ray spectromicroscopy of mouse kidney and liver

Author: Mansikkala, Tuomas, primary, Ohigashi, Takuji, additional, Salo, Miia H., additional, Hiltunen, Anniina E., additional, Vuolteenaho, Reetta, additional, Sipilä, Petra, additional, Kuure, Satu, additional, Huttula, Marko, additional, Uusimaa, Johanna, additional, Hinttala, Reetta, additional, Miinalainen, Ilkka, additional, Kangas, Salla, additional, and Patanen, Minna, additional
Published: 2023
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26. High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma

Author: Kreus, Mervi A., primary, Lehtonen, Siri T., additional, Mäkinen, Johanna M., additional, Lappi-Blanco, H. Elisa, additional, Laitakari, Kirsi E. M., additional, Johnson, Shirley A., additional, Hinttala, Reetta M. L., additional, and Kaarteenaho, Riitta L., additional
Published: 2023
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27. Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

Author: Hautakangas, Milla-Riikka, Hinttala, Reetta, Rantala, Heikki, Nieminen, Pentti, Uusimaa, Johanna, and Hassinen, Ilmo E.
Published: 2016
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28. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

Author: Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, and Brandon, Nicholas J.
Published: 2016
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29. Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

Author: Komulainen, Tuomas, Hautakangas, Milla-Riikka, Hinttala, Reetta, Pakanen, Salla, Vähäsarja, Vesa, Lehenkari, Petri, Olsen, Päivi, Vieira, Päivi, Saarenpää-Heikkilä, Outi, Palmio, Johanna, Tuominen, Hannu, Kinnunen, Pietari, Majamaa, Kari, Rantala, Heikki, Uusimaa, Johanna, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor
Published: 2015
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30. DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia:is there a causal relationship?

Author: Harju, Tekla, Hurme-Niiranen, Anri, Suo-Palosaari, Maria, Nygaard Nielsen, Stine, Hinttala, Reetta, Schmiegelow, Kjeld, Uusimaa, Johanna, Harila, Arja, Niinimäki, Riitta, Harju, Tekla, Hurme-Niiranen, Anri, Suo-Palosaari, Maria, Nygaard Nielsen, Stine, Hinttala, Reetta, Schmiegelow, Kjeld, Uusimaa, Johanna, Harila, Arja, and Niinimäki, Riitta
Abstract: Hepatotoxicity is a frequent complication during maintenance therapy of acute lymphoblastic leukemia (ALL) with 6-mercaptopurine and methotrexate. Elevated levels of methylated 6-mercaptopurine metabolites (MeMP) are associated with hepatotoxicity. However, not all mechanisms are known that lead to liver failure in patients with ALL. Variants in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma (POLG1), have been related to drug-induced hepatotoxicity, for example, by sodium valproate. The association of common POLG variants with hepatotoxicity during maintenance therapy was studied in 34 patients with childhood ALL. Of the screened POLG variants, four different variants were detected in 12 patients. One patient developed severe hepatotoxicity without elevated MeMP levels and harbored a heterozygous POLG p.G517V variant, which was not found in the other patients. [Figure not available: see fulltext.]
Published: 2023

31. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Author: Tallgren, Antti, primary, Kager, Leo, additional, O’Grady, Gina, additional, Tuominen, Hannu, additional, Körkkö, Jarmo, additional, Kuismin, Outi, additional, Feucht, Martha, additional, Wilson, Callum, additional, Behunova, Jana, additional, England, Eleina, additional, Kurki, Mitja I., additional, Palotie, Aarno, additional, Hallman, Mikko, additional, Kaarteenaho, Riitta, additional, Laccone, Franco, additional, Boztug, Kaan, additional, Hinttala, Reetta, additional, and Uusimaa, Johanna, additional
Published: 2023
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32. Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model

Author: Komulainen, Tuomas, Lodge, Tiffany, Hinttala, Reetta, Bolszak, Maija, Pietilä, Mika, Koivunen, Peppi, Hakkola, Jukka, Poulton, Joanna, Morten, Karl J., and Uusimaa, Johanna
Published: 2015
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33. FinnGen provides genetic insights from a well-phenotyped isolated population

Author: Kurki, Mitja I, Karjalainen, Juha, Palta, Priit, Sipilä, Timo P, Kristiansson, Kati, Donner, Kati M, Reeve, Mary P, Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A, Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A, Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O, Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G, Sun, Benjamin, Foley, Christopher N, Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A, Ding, Zhihao, Ehm, Margaret G, Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R, Green, Eric M, Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K, Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, FinnGen, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V, Niemi, Mari EK, Niemi, Marianna, Niiranen, Teemu, O Donnell, Christopher J, Obeidat, Ma En, Okafo, George, Ollila, Hanna M, Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S, Pelkonen, Margit, Pendergrass, Rion K, Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A, Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-Yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A, Ulirsch, Jacob C, Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S, Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P, Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J, Palotie, Aarno, Palotie, Aarno [0000-0002-2527-5874], and Apollo - University of Cambridge Repository
Subjects: Estonia, 631/208/205/2138, 692/308/2056, 45/43, article, Middle Aged, United Kingdom, White People, 631/208/457/649/2219, Phenotype, Gene Frequency, Meta-Analysis as Topic, 631/208/727/2000, Humans, Disease, Genetic Predisposition to Disease, Finland, Genome-Wide Association Study
Abstract: Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of
Published: 2023
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34. ciRS-7-miR7 regulate ischemia induced neuronal death via glutamatergic signaling

Author: Scoyni, Flavia, primary, Sitnikova, Valeriia, additional, Giudice, Luca, additional, Korhonen, Paula, additional, Trevisan, Davide M, additional, de Sande, Ana Hernandez, additional, Gomez-Budia, Mireia, additional, Giniatullina, Raisa, additional, Ugidos, Irene F, additional, Dhungana, Hiramani, additional, Pistono, Cristiana, additional, Korvenlaita, Nea, additional, Välimäki, Nelli-Noora, additional, Kangas, Salla M, additional, Hiltunen, Anniina E, additional, Kaikkonen-Määttä, Minna U, additional, Koistinaho, Jari, additional, Ylä-Herttuala, Seppo, additional, Hinttala, Reetta, additional, Venø, Morten T, additional, Su, Junyi, additional, Stoffel, Markus, additional, Schaefer, Anne, additional, Rajewsky, Nikolaus, additional, Kjems, Jørgen, additional, LaPierre, Mary P, additional, Piwecka, Monika, additional, Jolkkonen, Jukka, additional, Giniatullin, Rashid, additional, Hansen, Thomas B, additional, and Tarja, Malm, additional
Published: 2023
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35. The Finnish genetic heritage in 2022 - from diagnosis to translational research

Author: Uusimaa, Johanna, Kettunen, Johannes, Varilo, Teppo, Järvelä, Irma, Kallijärvi, Jukka, Kääriäinen, Helena, Laine, Minna, Lapatto, Risto, Myllynen, Päivi, Niinikoski, Harri, Rahikkala, Elisa, Suomalainen, Anu, Tikkanen, Ritva, Tyynismaa, Henna, Vieira, Päivi, Zarybnicky, Tomas, Sipilä, Petra, Kuure, Satu, Hinttala, Reetta, Department of Medical and Clinical Genetics, University of Helsinki, Irma Järvelä / Principal Investigator, Medicum, STEMM - Stem Cells and Metabolism Research Program, Biosciences, HUS Children and Adolescents, Lastenneurologian yksikkö, Clinicum, Helsinki University Hospital Area, Children's Hospital, HUS Helsinki and Uusimaa Hospital District, HUS Diagnostic Center, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE, Helsinki Institute of Life Science HiLIFE, Infra, Kidney development, and Laboratory Animal Centre
Subjects: FinnGen, Big data, Monogenic disorders, Population isolate, Finnish disease heritage, Rare disease, 3142 Public health care science, environmental and occupational health
Abstract: Publisher Copyright: © 2022. Published by The Company of Biologists Ltd. Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype-phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations.
Published: 2022

36. The Finnish genetic heritage in 2022 – from diagnosis to translational research

Author: Uusimaa, Johanna, primary, Kettunen, Johannes, additional, Varilo, Teppo, additional, Järvelä, Irma, additional, Kallijärvi, Jukka, additional, Kääriäinen, Helena, additional, Laine, Minna, additional, Lapatto, Risto, additional, Myllynen, Päivi, additional, Niinikoski, Harri, additional, Rahikkala, Elisa, additional, Suomalainen, Anu, additional, Tikkanen, Ritva, additional, Tyynismaa, Henna, additional, Vieira, Päivi, additional, Zarybnicky, Tomas, additional, Sipilä, Petra, additional, Kuure, Satu, additional, and Hinttala, Reetta, additional
Published: 2022
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37. Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

Author: Komulainen-Ebrahim, Jonna, Saastamoinen, Eemeli, Rahikkala, Elisa, Helander, Heli, Hinttala, Reetta, Risteli, Leila, Rantala, Heikki, and Uusimaa, Johanna
Published: 2017
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38. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1

Author: Pätsi, Jukka, Maliniemi, Pilvi, Pakanen, Salla, Hinttala, Reetta, Uusimaa, Johanna, Majamaa, Kari, Nyström, Thomas, Kervinen, Marko, and Hassinen, Ilmo E.
Published: 2012
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39. FinnGen: Unique genetic insights from combining isolated population and national health register data

Author: Kurki, Mitja I., primary, Karjalainen, Juha, additional, Palta, Priit, additional, Sipilä, Timo P., additional, Kristiansson, Kati, additional, Donner, Kati, additional, Reeve, Mary P., additional, Laivuori, Hannele, additional, Aavikko, Mervi, additional, Kaunisto, Mari A., additional, Loukola, Anu, additional, Lahtela, Elisa, additional, Mattsson, Hannele, additional, Laiho, Päivi, additional, Della Briotta Parolo, Pietro, additional, Lehisto, Arto, additional, Kanai, Masahiro, additional, Mars, Nina, additional, Rämö, Joel, additional, Kiiskinen, Tuomo, additional, Heyne, Henrike O., additional, Veerapen, Kumar, additional, Rüeger, Sina, additional, Lemmelä, Susanna, additional, Zhou, Wei, additional, Ruotsalainen, Sanni, additional, Pärn, Kalle, additional, Hiekkalinna, Tero, additional, Koskelainen, Sami, additional, Paajanen, Teemu, additional, Llorens, Vincent, additional, Gracia-Tabuenca, Javier, additional, Siirtola, Harri, additional, Reis, Kadri, additional, Elnahas, Abdelrahman G., additional, Aalto-Setälä, Katriina, additional, Alasoo, Kaur, additional, Arvas, Mikko, additional, Auro, Kirsi, additional, Biswas, Shameek, additional, Bizaki-Vallaskangas, Argyro, additional, Carpen, Olli, additional, Chen, Chia-Yen, additional, Dada, Oluwaseun A., additional, Ding, Zhihao, additional, Ehm, Margaret G., additional, Eklund, Kari, additional, Färkkilä, Martti, additional, Finucane, Hilary, additional, Ganna, Andrea, additional, Ghazal, Awaisa, additional, Graham, Robert R., additional, Green, Eric, additional, Hakanen, Antti, additional, Hautalahti, Marco, additional, Hedman, Åsa, additional, Hiltunen, Mikko, additional, Hinttala, Reetta, additional, Hovatta, Iiris, additional, Hu, Xinli, additional, Huertas-Vazquez, Adriana, additional, Huilaja, Laura, additional, Hunkapiller, Julie, additional, Jacob, Howard, additional, Jensen, Jan-Nygaard, additional, Joensuu, Heikki, additional, John, Sally, additional, Julkunen, Valtteri, additional, Jung, Marc, additional, Junttila, Juhani, additional, Kaarniranta, Kai, additional, Kähönen, Mika, additional, Kajanne, Risto M., additional, Kallio, Lila, additional, Kälviäinen, Reetta, additional, Kaprio, Jaakko, additional, Kerimov, Nurlan, additional, Kettunen, Johannes, additional, Kilpeläinen, Elina, additional, Kilpi, Terhi, additional, Klinger, Katherine, additional, Kosma, Veli-Matti, additional, Kuopio, Teijo, additional, Kurra, Venla, additional, Laisk, Triin, additional, Laukkanen, Jari, additional, Lawless, Nathan, additional, Liu, Aoxing, additional, Longerich, Simonne, additional, Mägi, Reedik, additional, Mäkelä, Johanna, additional, Mäkitie, Antti, additional, Malarstig, Anders, additional, Mannermaa, Arto, additional, Maranville, Joseph, additional, Matakidou, Athena, additional, Meretoja, Tuomo, additional, Mozaffari, Sahar V., additional, Niemi, Mari EK., additional, Niemi, Marianna, additional, Niiranen, Teemu, additional, O’Donnell, Christopher J., additional, Obeidat, Ma’en, additional, Okafo, George, additional, Ollila, Hanna M., additional, Palomäki, Antti, additional, Palotie, Tuula, additional, Partanen, Jukka, additional, Paul, Dirk S., additional, Pelkonen, Margit, additional, Pendergrass, Rion K., additional, Petrovski, Slavé, additional, Pitkäranta, Anne, additional, Platt, Adam, additional, Pulford, David, additional, Punkka, Eero, additional, Pussinen, Pirkko, additional, Raghavan, Neha, additional, Rahimov, Fedik, additional, Rajpal, Deepak, additional, Renaud, Nicole A., additional, Riley-Gillis, Bridget, additional, Rodosthenous, Rodosthenis, additional, Saarentaus, Elmo, additional, Salminen, Aino, additional, Salminen, Eveliina, additional, Salomaa, Veikko, additional, Schleutker, Johanna, additional, Serpi, Raisa, additional, Shen, Huei-yi, additional, Siegel, Richard, additional, Silander, Kaisa, additional, Siltanen, Sanna, additional, Soini, Sirpa, additional, Soininen, Hilkka, additional, Sul, Jae H., additional, Tachmazidou, Ioanna, additional, Tasanen, Kaisa, additional, Tienari, Pentti, additional, Toppila-Salmi, Sanna, additional, Tukiainen, Taru, additional, Tuomi, Tiinamaija, additional, Turunen, Joni A., additional, Ulirsch, Jacob C., additional, Vaura, Felix, additional, Virolainen, Petri, additional, Waring, Jeffrey, additional, Waterworth, Dawn, additional, Yang, Robert, additional, Nelis, Mari, additional, Reigo, Anu, additional, Metspalu, Andres, additional, Milani, Lili, additional, Esko, Tõnu, additional, Fox, Caroline, additional, Havulinna, Aki S., additional, Perola, Markus, additional, Ripatti, Samuli, additional, Jalanko, Anu, additional, Laitinen, Tarja, additional, Mäkelä, Tomi, additional, Plenge, Robert, additional, McCarthy, Mark, additional, Runz, Heiko, additional, Daly, Mark J., additional, and Palotie, Aarno, additional
Published: 2022
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40. Nhlrc2 is crucial during mouse gastrulation

Author: Hiltunen, Anniina E., primary, Vuolteenaho, Reetta, additional, Ronkainen, Veli‐Pekka, additional, Miinalainen, Ilkka, additional, Uusimaa, Johanna, additional, Lehtonen, Siri, additional, and Hinttala, Reetta, additional
Published: 2022
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41. EOSC-Life EOSC FAIR services deployment for open calls

Author: Parkinson, Helen, Gribbon, Philip, Sarkans, Ugis, Witt, Gesa, Zaliani, Andrea, Kohler, Manfred, Swedlow, Jason, Burel, Jean-Marie, Swertz, Morris, van Enckevort, Esther, Holub, Petr, Massimi, Marzia, Matteoni, Rafaele, Maier, Holger, Hinttala, Reetta, Heikkinen, Anne, Gormanns, Philipp, Vasseur, Laurent, Leblanc, Sophie, Herault, Yann, Kontoyiannis, Dimitris, Chandras, Christina, Panou, Dimitra, López Coronado, José Miguel, Aznar Novella, Rosa, Robert, Vincent, Hadj Amor, Ammar Ben, Casaregola, Serge, Legras, Jean-Luc, Mistou, Michel-Yves, Romano, Paolo, Perseil, Isabelle, David, Romain, Pieruschka, Roland, Exter, Katrina, Portier, Marc, Decruw, Cedric, Canham, Steve, Ohmann, Christian, Goryanin, Sergey, Del Cano, Laura, Fratelli, Maddalena, Goble, Carole, Owen, Stuart, Soiland- Reyes, Stian, Juty, Nick, Harmse, Henriette, Longo, Dario, Sansone, Susanna, Lister, Allyson L., McQuilton, Peter, Tursthon, Milo, Granell, Ramon, Mirian, Hossein, Roos, Marco, and Bonino, Luiz
Subjects: FAIR data, Life science research infrastructures, FAIR services
Abstract: This deliverable summarises the work of WP1 to deliver Findable, Accessible, Interoperable and Re-usable (FAIR) services in the context of EOSC-Life’s funding calls, using these to improve FAIR services, service uptake and to inform sustainable development and future use. We describe service delivery and development around the FAIR principles and present the funded projects which have driven our implementation of FAIR Services. We address sustainability and describe the processes used to engage the EOSC-Life funded projects, as well as future work.
Published: 2022
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42. EOSC-Life -D1.3 EOSC-Life EOSC FAIR services deployment for open calls

Author: Parkinson, Helen, Gribbon, Philip, Sarkans, Ugis, Witt, Gesa, Zaliani, Andrea, Kohler, Manfred, Swedlow, Jason, Burel, Jean-Marie, Swertz, Morris, van Enckevort, Esther, Holub, Petr, Massimi, Marzia, Matteoni, Rafaele, Maier, Holger, Hinttala, Reetta, Heikkinen, Anne, Gormanns, Philipp, Vasseur, Laurent, Leblanc, Sophie, Herault, Yann, Kontoyiannis, Dimitris, Chandras, Christina, Panou, Dimitra, López-Coronado, José-Miguel, Aznar-Novella, Rosa, Robert, Vincent, Hadj-Amor, Ammar-Ben, Casaregola, Serge, Legras, Jean-Luc, Mistou, Michel-Yves, Romano, Paolo, Perseil, Isabelle, David, Romain, Pieruschka, Roland, Exter, Katrina, Portier, Marc, Decruw, Cedric, Canham, Steve, Ohmann, Christian, Goryanin, Sergey, Del-Cano, Laura, Fratelli, Maddalena, Goble, Carole, Owen, Stuart, Soiland-Reyes, Stian, Juty, Nick, Harmse, Henriette, Longo, Dario, Sansone, Susanna, Lister, Allyson-L., Mcquilton, Peter, Tursthon, Milo, Granell, Ramon, Mirian, Hossein, Roos, Marco, Bonino, Luiz, European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Fraunhofer Institute for Translational Medicine and Pharmacology (ITMP), European Molecular Biology Laboratory [Hinxton], Centre for Gene Regulation and Expression, School of Life Sciences Dundee, University of Dundee, Division of Computational Biology, Erasmus University Medical Center [Rotterdam] (Erasmus MC), University Medical Center Groningen [Groningen] (UMCG), European research infrastructure for biobanking (BBMRI-ERIC), Consiglio Nazionale delle Ricerche [Bologna] (CNR), University of South Australia [Adelaide], MRC Harwell Institute [UK], INFRAFRONTIER GmbH [Neuherberg], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), IRCCS Ospedale Policlinico San Martino [Genoa, Italy], INSERM-TRANSFERT [Paris] (IT), Institut National de la Santé et de la Recherche Médicale (INSERM), European Research Infrastructure on Highly Pathogenic Agents (ERINHA-AISBL), IBG-2: Plant Sciences, Flanders Marine Institute (VLIZ), European Clinical Research Infrastructures Network [Dusseldorf] (ECRIN), IRCCS - Istituto di Ricerche Farmacologiche 'Mario Negri' [Milan, Italy], The University of Manchester, University of Oxford, Fraunhofer-Institut für Offene Kommunikationssysteme (FOKUS Fraunhofer), EMBL, CSIC, VU, BBMRI, KNAW, UVEG, USMI, IMG, UNIMAN, LUMC, EATRIS, UNIMIB, EBI, ECRIN, EMBRC, EMPHASIS (FZJ), ERINHA, INFRAFRONTIER, INRAE, UNIVDUN, HMGU, CERBM, BSCRC, UOULU, CRRMMP, and European Project: 824087,EOSC-Life
Subjects: Life science, FAIR data, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], research infrastructures, FAIR services
Abstract: This deliverable summarises the work of WP1 to deliver Findable, Accessible, Interoperable and Re-usable (FAIR) services in the context of EOSC-Life’s funding calls, using these to improve FAIR services, service uptake and to inform sustainable development and future use. We describe service delivery and development around the FAIR principles and present the funded projects which have driven our implementation of FAIR Services. We address sustainability and describe the processes used to engage the EOSC-Life funded projects, as well as future work.
Published: 2022

43. Additional file 2 of NHLRC2 expression is increased in idiopathic pulmonary fibrosis

Author: Kreus, Mervi, Lehtonen, Siri, Hinttala, Reetta, Salonen, Johanna, Porvari, Katja, and Kaarteenaho, Riitta
Abstract: Additional file 2: Figure S1. Immunoblots of NHLRC2 and α-SMA expression in cultured lung cells. (A) Immunoblot of NHLRC2 expression in cell lysates prepared from primary stromal cells derived from control lungs (n = 4) and idiopathic pulmonary fibrosis (IPF) patients (n=5), small airway epithelial cells (SAEC) (n = 1), and primary bronchial/tracheal epithelial cells (PBTE) (n = 1). (B, C) Primary stromal cells derived from normal control lung (n = 1) and IPF (n = 1), and small airway epithelial cell line (SAEC, n = 1) were exposed to 5 ng/ml TGF-β1 for 24 to 72 hours, cell lysates were prepared and subjected to SDS-PAGE and Western blot analysis. (B) Immunoblot of NHLRC2 expression in TGF-β1 exposed cells. (C) Immunoblot and a bar graph of alpha smooth muscle actin (α-SMA) levels. Band intensities were quantified using Image Studio Lite software, normalized to GAPDH, and compared to non-treated cells (control)
Published: 2022
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44. Additional file 5 of Analysis of human brain tissue derived from DBS surgery

Author: Kangas, Salla M., Teppo, Jaakko, Lahtinen, Maija J., Suoranta, Anu, Ghimire, Bishwa, Mattila, Pirkko, Uusimaa, Johanna, Varjosalo, Markku, Katisko, Jani, and Hinttala, Reetta
Abstract: Additional file 5. Pilot Western Blotting experiment; results, materials and methods
Published: 2022
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45. Additional file 1 of NHLRC2 expression is increased in idiopathic pulmonary fibrosis

Author: Kreus, Mervi, Lehtonen, Siri, Hinttala, Reetta, Salonen, Johanna, Porvari, Katja, and Kaarteenaho, Riitta
Abstract: Additional file 1: Table S1. Antibodies used for immunohistochemistry and Western blot analysis. Table S2. Sequences, annealing temperatures, and amplicon sizes of primers used for RT-qPCR.
Published: 2022
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46. Analysis of functional consequences of haplogroup J polymorphisms m.4216T > C and m.3866T > C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli

Author: Hinttala, Reetta, Kervinen, Marko, Uusimaa, Johanna, Maliniemi, Pilvi, Finnilä, Saara, Rantala, Heikki, Remes, Anne M., Hassinen, Ilmo E., and Majamaa, Kari
Published: 2010
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47. Modeling Rare Human Disorders in Mice : The Finnish Disease Heritage

Author: Zárybnický, Tomáš, Heikkinen, Anne, Kangas, Salla M., Karikoski, Marika, Martinez-Nieto, Guillermo Antonio, Salo, Miia H., Uusimaa, Johanna, Vuolteenaho, Reetta, Hinttala, Reetta, Sipilä, Petra, Kuure, Satu, Helsinki Institute of Life Science HiLIFE, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Kidney development, and Biosciences
Subjects: LYSOSOMAL STORAGE DISORDER, rare diseases, Finnish disease heritage, STEM-CELL TRANSPLANTATION, MOUSE MODEL, monogenic diseases, CRISPR/Cas9, NEURONAL CEROID-LIPOFUSCINOSIS, DEGENERATION MND MUTANT, MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, CARTILAGE-HAIR HYPOPLASIA, HYDROLETHALUS SYNDROME, 1182 Biochemistry, cell and molecular biology, mouse models, genome engineering, ACUTE FATTY LIVER
Abstract: The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.
Published: 2021

48. An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

Author: Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A., and Shoubridge, Eric A.
Published: 2015
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49. Nodularia spumigena extract induces upregulation of mitochondrial respiratory chain complexes in spinach (Spinacia oleracea L.)

Author: Shunmugam, Sumathy, Hinttala, Reetta, Lehtimäki, Nina, Miettinen, Mirjami, Uusimaa, Johanna, Majamaa, Kari, Sivonen, Kaarina, Aro, Eva-Mari, and Mulo, Paula
Published: 2013
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50. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Author: Zárybnický, Tomáš, primary, Heikkinen, Anne, additional, Kangas, Salla M., additional, Karikoski, Marika, additional, Martínez-Nieto, Guillermo Antonio, additional, Salo, Miia H., additional, Uusimaa, Johanna, additional, Vuolteenaho, Reetta, additional, Hinttala, Reetta, additional, Sipilä, Petra, additional, and Kuure, Satu, additional
Published: 2021
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