Search Results - "Hamalainen, Eija"

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development by Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I, Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi

“…Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause…”
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Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors by McBride, David J., Orpana, Arto K., Sotiriou, Christos, Joensuu, Heikki, Stephens, Philip J., Mudie, Laura J., Hämäläinen, Eija, Stebbings, Lucy A., Andersson, Leif C., Flanagan, Adrienne M., Durbecq, Virginie, Ignatiadis, Michail, Kallioniemi, Olli, Heckman, Caroline A., Alitalo, Kari, Edgren, Henrik, Futreal, P. Andrew, Stratton, Michael R., Campbell, Peter J.

“…Detection of recurrent somatic rearrangements routinely allows monitoring of residual disease burden in leukemias, but is not used for most solid tumors…”
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability by Urpa, Lea, Kurki, Mitja I, Rahikkala, Elisa, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Uusimaa, Johanna, Moilanen, Jukka S, Körkkö, Jarmo, Singh, Tarjinder, Kuismin, Outi, Pietiläinen, Olli, Palotie, Aarno, Daly, Mark J

“…Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as…”
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The first trimester human placenta is a site for terminal maturation of primitive erythroid cells by Van Handel, Ben, Prashad, Sacha L., Hassanzadeh-Kiabi, Nargess, Huang, Andy, Magnusson, Mattias, Atanassova, Boriana, Chen, Angela, Hamalainen, Eija I., Mikkola, Hanna K.A.

“…Embryonic hematopoiesis starts via the generation of primitive red blood cells (RBCs) that satisfy the embryo's immediate oxygen needs. Although primitive RBCs…”
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NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Nuottamo, Marjo Eveliina, Häppölä, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepistö, Maija, Hämäläinen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, Wessman, Maija

“…To identify genetic factors predisposing to migraine-epilepsy phenotype utilizing a multi-generational family with known linkage to chr12q24.2-q24.3. We used…”
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland by Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno

“…The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less…”
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An immune response network associated with blood lipid levels by Inouye, Michael, Silander, Kaisa, Hamalainen, Eija, Salomaa, Veikko, Harald, Kennet, Jousilahti, Pekka, Männistö, Satu, Eriksson, Johan G, Saarela, Janna, Ripatti, Samuli, Perola, Markus, van Ommen, Gert-Jan B, Taskinen, Marja-Riitta, Palotie, Aarno, Dermitzakis, Emmanouil T, Peltonen, Leena

“…While recent scans for genetic variation associated with human disease have been immensely successful in uncovering large numbers of loci, far fewer studies…”
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy by Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.

“…Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of…”
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Consistently Replicating Locus Linked to Migraine on 10q22-q23 by Anttila, Verneri, Nyholt, Dale R., Kallela, Mikko, Artto, Ville, Vepsäläinen, Salli, Jakkula, Eveliina, Wennerström, Annika, Tikka-Kleemola, Päivi, Kaunisto, Mari A., Hämäläinen, Eija, Widén, Elisabeth, Terwilliger, Joseph, Merikangas, Kathleen, Montgomery, Grant W., Martin, Nicholas G., Daly, Mark, Kaprio, Jaakko, Peltonen, Leena, Färkkilä, Markus, Wessman, Maija, Palotie, Aarno

“…Here, we present the results of two genome-wide scans in two diverse populations in which a consistent use of recently introduced migraine-phenotyping methods…”
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Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families by Häppölä, Paavo, Gormley, Padhraig, Nuottamo, Marjo E, Artto, Ville, Sumelahti, Marja-Liisa, Nissilä, Markku, Keski-Säntti, Petra, Ilmavirta, Matti, Kaunisto, Mari A, Hämäläinen, Eija I, Ripatti, Samuli, Pirinen, Matti, Wessman, Maija, Palotie, Aarno, Kallela, Mikko

“…Migraine is diagnosed using the extensively field-tested International Classification of Headache Disorders (ICHD-3) consensus criteria derived by the…”
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Recombinant collagen and gelatin for drug delivery by Olsen, David, Yang, Chunlin, Bodo, Michael, Chang, Robert, Leigh, Scott, Baez, Julio, Carmichael, David, Perälä, Maritta, Hämäläinen, Eija-Riitta, Jarvinen, Marko, Polarek, James

“…The tools of recombinant protein expression are now being used to provide recombinant sources of both collagen and gelatin. The primary focus of this review is…”
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Cellulose sponge as a scaffold for cartilage tissue engineering by Pulkkinen, Hertta, Tiitu, Virpi, Lammentausta, Eveliina, Laasanen, Mikko S, Hämäläinen, Eija-Riitta, Kiviranta, Ilkka, Lammi, Mikko J

“…One goal of functional tissue engineering is to manufacture scaffolds infiltrated with chondrocytes which are suitable for transplantation into the lesion…”
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Metabonomic, transcriptomic, and genomic variation of a population cohort by Inouye, Michael, Kettunen, Johannes, Soininen, Pasi, Silander, Kaisa, Ripatti, Samuli, Kumpula, Linda S, Hämäläinen, Eija, Jousilahti, Pekka, Kangas, Antti J, Männistö, Satu, Savolainen, Markku J, Jula, Antti, Leiviskä, Jaana, Palotie, Aarno, Salomaa, Veikko, Perola, Markus, Ala-Korpela, Mika, Peltonen, Leena

“…Comprehensive characterization of human tissues promises novel insights into the biological architecture of human diseases and traits. We assessed metabonomic,…”
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The enhancement of homogenous mass extension reaction: Comparison of two enzymes by Tikka-Kleemola, Päivi, Hämäläinen, Eija, Tuomainen, Kari, Suvela, Minna, Artma, Agu, Kahre, Olev, Wessman, Maija, Palotie, Aarno, Silander, Kaisa

“…Reliable and efficient PCR and extension reactions using standardized procedures are key elements for successful single nucleotide polymorphism (SNP)…”
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Genome-wide association analysis identifies susceptibility loci for migraine without aura by Freilinger, Tobias, Anttila, Verneri, de Vries, Boukje, Malik, Rainer, Kallela, Mikko, Terwindt, Gisela M, Pozo-Rosich, Patricia, Winsvold, Bendik, Nyholt, Dale R, van Oosterhout, Willebrordus P J, Artto, Ville, Todt, Unda, Hämäläinen, Eija, Fernández-Morales, Jèssica, Louter, Mark A, Kaunisto, Mari A, Schoenen, Jean, Raitakari, Olli, Lehtimäki, Terho, Vila-Pueyo, Marta, Göbel, Hartmut, Wichmann, Erich, Sintas, Cèlia, Uitterlinden, Andre G, Hofman, Albert, Rivadeneira, Fernando, Heinze, Axel, Tronvik, Erling, van Duijn, Cornelia M, Kaprio, Jaakko, Cormand, Bru, Wessman, Maija, Frants, Rune R, Meitinger, Thomas, Müller-Myhsok, Bertram, Zwart, John-Anker, Färkkilä, Markus, Macaya, Alfons, Ferrari, Michel D, Kubisch, Christian, Palotie, Aarno, Dichgans, Martin, van den Maagdenberg, Arn M J M

“…Arn van den Maagdenberg and colleagues report a genome-wide association analysis for migraine without aura, the most common form of migraine. They identify two…”
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Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 by ANTTILA, Verneri, STEFANSSON, Hreinn, ARTTO, Ville, INOUYE, Michael, ALAKURTTI, Kirsi, KAUNISTO, Mari A, HÄMÄLÄINEN, Eija, DE VRIES, Boukje, STAM, Anine H, WELLER, Claudia M, HEINZE, Axel, HEINZE-KUHN, Katja, KALLELA, Mikko, GOEBEL, Ingrid, BORCK, Guntram, GÖBEL, Hartmut, STEINBERG, Stacy, WOLF, Christiane, BJÖRNSSON, Asgeir, GUDMUNDSSON, Gretar, KIRCHMANN, Malene, HAUGE, Anne, WERGE, Thomas, TODT, Unda, SCHOENEN, Jean, ERIKSSON, Johan G, HAGEN, Knut, STOVNER, Lars, WICHMANN, H-Erich, MEITINGER, Thomas, ALEXANDER, Michael, MOEBUS, Susanne, SCHREIBER, Stefan, AULCHENKO, Yurii S, TERWINDT, Gisela M, BRETELER, Monique M. B, UITTERLINDEN, Andre G, HOFMAN, Albert, VAN DUIJN, Cornelia M, TIKKA-KLEEMOLA, Päivi, VEPSÄLÄINEN, Salli, LUCAE, Susanne, TOZZI, Federica, MUGLIA, Pierandrea, BARRETT, Jeffrey, STELLA CALAFATO, M, KAPRIO, Jaakko, FÄRKKILÄ, Markus, PELTONEN, Leena, STEFANSSON, Kari, ZWART, John-Anker, FERRARI, Michel D, OLESEN, Jes, DALY, Mark, WESSMAN, Maija, VAN DEN MAAGDENBERG, Arn M.j M, NYHOLT, Dale R, DIMAS, Antigone S, FREILINGER, Tobias, MÜLLER-MYHSOK, Bertram

“…Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare…”
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Improved production of human type II procollagen in the yeast Pichia pastoris in shake flasks by a wireless-controlled fed-batch system by Ruottinen, Maria, Bollok, Monika, Kögler, Martin, Neubauer, Antje, Krause, Mirja, Hämäläinen, Eija-Riitta, Myllyharju, Johanna, Vasala, Antti, Neubauer, Peter

“…Here we describe a new technical solution for optimization of Pichia pastoris shake flask cultures with the example of production of stable human type II…”
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Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache by Siewert, Katherine M, Klarin, Derek, Damrauer, Scott M, Chang, Kyong-Mi, Tsao, Philip S, Assimes, Themistocles L, Davey Smith, George, Voight, Benjamin F

“…Abstract Background Nearly a fifth of the world’s population suffer from migraine headache, yet risk factors for this disease are poorly characterized. Methods…”
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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia by Nehme, Ralda, Pietiläinen, Olli, Artomov, Mykyta, Tegtmeyer, Matthew, Valakh, Vera, Lehtonen, Leevi, Bell, Christina, Singh, Tarjinder, Trehan, Aditi, Sherwood, John, Manning, Danielle, Peirent, Emily, Malik, Rhea, Guss, Ellen J., Hawes, Derek, Beccard, Amanda, Bara, Anne M., Hazelbaker, Dane Z., Zuccaro, Emanuela, Genovese, Giulio, Loboda, Alexander A., Neumann, Anna, Lilliehook, Christina, Kuismin, Outi, Hamalainen, Eija, Kurki, Mitja, Hultman, Christina M., Kähler, Anna K., Paulo, Joao A., Ganna, Andrea, Madison, Jon, Cohen, Bruce, McPhie, Donna, Adolfsson, Rolf, Perlis, Roy, Dolmetsch, Ricardo, Farhi, Samouil, McCarroll, Steven, Hyman, Steven, Neale, Ben, Barrett, Lindy E., Harper, Wade, Palotie, Aarno, Daly, Mark, Eggan, Kevin

“…It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from deletion carriers…”
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Assembly of stable human type I and III collagen molecules from hydroxylated recombinant chains in the yeast Pichia pastoris. Effect of an engineered C-terminal oligomerization domain foldon by Pakkanen, Outi, Hämäläinen, Eija-Riitta, Kivirikko, Kari I, Myllyharju, Johanna

“…The C-propeptides of the pro alpha chains of type I and type III procollagens are believed to be essential for correct chain recognition and chain assembly in…”
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