• 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA 

      Pantic, Boris; Ives, Daniel; Mennuni, Mara; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; Lopez de Arbina, Amaia; Muñoz-Oreja, Mikel; Villar-Fernandez, Marina; Dang, Thanh-mai Julie; Vergani, Lodovica; Johnston, Iain George; Pitceathly, Robert D. S.; McFarland, Robert; Hanna, Michael G.; Taylor, Robert W.; Holt, Ian J.; Spinazzola, Antonella (Journal article; Peer reviewed, 2021)
      Pathological variants of human mitochondrial DNA (mtDNA) typically co-exist with wild-type molecules, but the factors driving the selection of each are not understood. Because mitochondrial fitness does not favour the ...
    • Abrupt high-latitude climate events and decoupled seasonal trends during the Eemian 

      Salonen, J. Sakari; Helmens, Karin F.; Brendryen, Jo; Kuosmanen, Niina; Väliranta, Minna; Goring, Simon; Korpela, Mikko; Kylander, Malin; Philip, Annemarie; Plikk, Anna; Renssen, Hans; Luoto, Miska (Peer reviewed; Journal article, 2018-07-20)
      The Eemian (the Last Interglacial; ca. 129–116 thousand years ago) presents a testbed for assessing environmental responses and climate feedbacks under warmer-than-present boundary conditions. However, climate syntheses ...
    • AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion 

      Schuster, Anne; Klein, Eliane; Neirinckx, Virginie; Møldrup Knudsen, Arnon; Fabian, Carina; Hau, Ann-Christin; Dieterle, Monika; Oudin, Anaïs; Nazarov, Petr V.; Golebiewska, Anna; Muller, Arnaud; Perez-Hernandez, Daniel; Rhodius, Sophie; Dittmar, Gunnar; Bjerkvig, Rolf; Herold-Mende, Christel; Klink, Barbara; Winther Kristensen, Bjarne; Niclou, Simone Pierrette (Journal article; Peer reviewed, 2020)
      The infiltrative nature of Glioblastoma (GBM), the most aggressive primary brain tumor, critically prevents complete surgical resection and masks tumor cells behind the blood brain barrier reducing the efficacy of systemic ...
    • Asynchronous Antarctic and Greenland ice-volume contributions to the last interglacial sea-level highstand 

      Rohling, E.J.; Hibbert, F.D.; Grant, K.M.; Galaasen, Eirik Vinje; Irvali, Nil; Kleiven, Helga Flesche; Marino, G.; Ninnemann, Ulysses S; Roberts, A.P.; Rosenthal, Y.; Schulz, H.; Williams, F.H.; Yu, J. (Peer reviewed; Journal article, 2019-11-06)
      The last interglacial (LIG; ~130 to ~118 thousand years ago, ka) was the last time global sea level rose well above the present level. Greenland Ice Sheet (GrIS) contributions were insufficient to explain the highstand, ...
    • Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation 

      Frei, Oleksandr; Holland, Dominic; Smeland, Olav Bjerkehagen; Shadrin, Alexey A.; Fan, Chun Chieh; Maeland, Steffen; O'Connell, Kevin S.; Wang, Yunpeng; Djurovic, Srdjan; Thompson, Wesley Kurt; Andreassen, Ole Andreas; Dale, Anders (Peer reviewed; Journal article, 2019-06-03)
      Accumulating evidence from genome wide association studies (GWAS) suggests an abundance of shared genetic influences among complex human traits and disorders, such as mental disorders. Here we introduce a statistical tool, ...
    • C/EBPB-dependent adaptation to palmitic acid promotes tumor formation in hormone receptor negative breast cancer 

      Liu, Xiaozheng; Rulina, Anastasiia; Choi, Man Hung; Pedersen, Line; Lepland, Johanna; Takle, Sina Thorsen; Madeleine, Noëlly; Peters, Stacey D'mello; Wogsland, Cara Ellen; Grøndal, Sturla Magnus; Lorens, James Bradley; Goodarzi, Hani; Lønning, Per Eystein; Knappskog, Stian; Molven, Anders; Halberg, Nils Henrik (Journal article; Peer reviewed, 2022)
      Epidemiological studies have established a positive association between obesity and the incidence of postmenopausal breast cancer. Moreover, it is known that obesity promotes stem cell-like properties of breast cancer ...
    • Cold spells in the Nordic Seas during the early Eocene Greenhouse 

      Vickers, Madeleine L.; Lengger, Sabine K.; Bernasconi, Stefano M.; Thibault, Nicolas; Schultz, Bo; Bremer, Alvaro Fernandez; Ullmann, Clemens V.; McCormack, Paul; Bjerrum, Christian J.; Rasmussen, Jan Audun; Hougård, Iben Winther; Korte, Christoph (Journal article; Peer reviewed, 2020)
      The early Eocene (c. 56 - 48 million years ago) experienced some of the highest global temperatures in Earth’s history since the Mesozoic, with no polar ice. Reports of contradictory ice-rafted erratics and cold water ...
    • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores 

      de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E.; Rongve, Arvid; Aarsland, Dag; Selbæk, Geir; Saltvedt, Ingvild; Sando, Sigrid Botne; Djurovic, Srdjan; Andreassen, Ole; Pedersen, Nancy L.; Stringa, Najada; Zettergren, Anna; Hernández, Isabel; Montrreal, Laura; Antunez, Carmen; Antonell, Anna; Tankard, Rick; Bis, Joshua C.; Sims, Rebecca; Bellenguez, Celine; Quintela, Inés; González-Pérez, Antonio; Calero, Miguel; Franco-Macias, Emilio; Macias, Juan; Blesa, Rafael; Cervera-Carles, Laura; Menendez-Gonzalez, Manuel; Frank-Garcia, Ana; Royo, José Luis; Moreno, Fermin; Vilas, Raquel Huerto; Baquero, Miquel; Diez-Fairen, Monica; Lage, Carmen; García-Madrona, Sebastian; Garcia-Gonzalez, Pablo; Alarcón-Martín, Emilio; Valero, Sergi; Sotolongo-Grau, Oscar; Ullgren, Abbe; Naj, Adam C.; Lemstra, Afina W.; Benaque, Alba; Perez-Cordon, Alba; Benussi, Alberto; Rabano, Alberto (Journal article; Peer reviewed, 2021)
      Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
    • Deciphering the complex role of thrombospondin-1 in glioblastoma development 

      Daubon, Thomas; Léon, Céline; Clarke, Kim; Andrique, Laetitia; Salabert, Laura; Darbo, Elodie; Pineau, Raphael; Guérit, Sylvaine; Maitre, Marlène; Dedieu, Stéphane; Jeanne, Albin; Bailly, Sabine; Feige, Jean-Jacques; Miletic, Hrvoje; Rossi, Marco; Bello, Lorenzo; Falciani, Francesco; Bjerkvig, Rolf; Bikfalvi, Andréas (Peer reviewed; Journal article, 2019-03-08)
      We undertook a systematic study focused on the matricellular protein Thrombospondin-1 (THBS1) to uncover molecular mechanisms underlying the role of THBS1 in glioblastoma (GBM) development. THBS1 was found to be increased ...
    • Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays 

      Thunemann, Martin; Lu, Yichen; Liu, Xin; Kılıç, Kıvılcım; Desjardins, Michèle; Vandenberghe, Matthieu; Sadegh, Sanaz; Saisan, Payam A.; Cheng, Qun; Weldy, Kimberly L.; Lyu, Hongming; Djurovic, Srdjan; Andreassen, Ole Andreas; Dale, Anders; Devor, Anna; Kuzum, Duygu (Peer reviewed; Journal article, 2018-05-23)
      Recent advances in optical technologies such as multi-photon microscopy and optogenetics have revolutionized our ability to record and manipulate neuronal activity. Combining optical techniques with electrical recordings ...
    • Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease 

      Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo; Miletic, Hrvoje; Osuagwu, Nelson; Kristoffersen, Stine; Lilleng, Peer Kåre; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (Peer reviewed; Journal article, 2016-11-22)
      Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we ...
    • Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes 

      Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josée; Garay-Sevilla, Ma Eugenia; García-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; González-Villalpando, Clicerio; Gonzalez, Ma Elena; Grarup, Niels; Groop, L; Gross, Myron; Haiman, Christopher A.; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jørgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martínez-Hernández, Angélica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, AD; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O’Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, W; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noël P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O’Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, MS (Journal article; Peer reviewed, 2021)
      Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ...
    • Diabatic heating governs the seasonality of the Atlantic Niño 

      Nnamchi, Hyacinth C; Latif, Mojib; Keenlyside, Noel; Kjellsson, Joakim; Richter, Ingo (Journal article; Peer reviewed, 2021)
      The Atlantic Niño is the leading mode of interannual sea-surface temperature (SST) variability in the equatorial Atlantic and assumed to be largely governed by coupled ocean-atmosphere dynamics described by the Bjerknes-feedback ...
    • DNA methylation in newborns conceived by assisted reproductive technology 

      Håberg, Siri Eldevik; Page, Christian Magnus; Lee, Yunsung; Nustad, Haakon Egdetveit; Magnus, Maria Christine; Haftorn, Kristine Løkås; Carlsen, Ellen Øen; Denault, William Robert Paul; Bohlin, Jon; Jugessur, Astanand; Magnus, Per Minor; Gjessing, Håkon Kristian; Lyle, Robert (Journal article; Peer reviewed, 2022)
      Assisted reproductive technology (ART) may affect fetal development through epigenetic mechanisms as the timing of ART procedures coincides with the extensive epigenetic remodeling occurring between fertilization and embryo ...
    • Electron Bernstein waves driven by electron crescents near the electron diffusion region 

      Li, Wenya; Graham, D. B.; Khotyaintsev, Yuri V.; Vaivads, Andris; André, Mats; Min, K.; Liu, K.; Tang, B.B.; Wang, C.; Fujimoto, K.; Norgren, Astrid Elisabet Cecilia; Toledo-Redondo, Sergio; Lindqvist, Per-Arne; Ergun, R.E.; Torbert, Roy B.; Rager, A.C.; Dorelli, J.C.; Gershman, D.J.; Giles, B. L.; Lavraud, B.; Plaschke, F.; Magnes, W.; Le Contel, Olivier; Russell, Christopher T.; Burch, J. L. (Journal article; Peer reviewed, 2020)
      The Magnetospheric Multiscale (MMS) spacecraft encounter an electron diffusion region (EDR) of asymmetric magnetic reconnection at Earth’s magnetopause. The EDR is characterized by agyrotropic electron velocity distributions ...
    • Experimental warming differentially affects vegetative and reproductive phenology of tundra plants 

      Collins, Courtney G.; Elmendorf, Sarah C.; Hollister, Robert D.; Henry, Greg H. R.; Clark, Karin; Bjorkman, Anne D.; Myers-Smith, Isla H.; Prevéy, Janet S.; Ashton, Isabel W.; Assmann, Jakob J.; Alatalo, Juha M.; Carbognani, Michele; Chisholm, Chelsea L.; Cooper, Elisabeth J.; Forrester, Chiara; Jónsdóttir, Ingibjörg Svala; Klanderud, Kari; Kopp, Christopher W.; Livensperger, Carolyn; Mauritz, Marguerite; May, Jeremy L.; Molau, Ulf; Oberbauer, Steven F.; Ogburn, Emily; Panchen, Zoe A.; Petraglia, Alessandro; Post, Eric; Rixen, Christian; Rodenhizer, Heidi; Schuur, Edward A.G.; Semenchuk, Philipp; Smith, Jane G.; Steltzer, Heidi; Totland, Ørjan; Walker, Marilyn D.; Welker, Jeffrey M.; Suding, Katharine N. (Journal article; Peer reviewed, 2021)
      Rapid climate warming is altering Arctic and alpine tundra ecosystem structure and function, including shifts in plant phenology. While the advancement of green up and flowering are well-documented, it remains unclear ...
    • The genetic architecture of human brainstem structures and their involvement in common brain disorders 

      Elvsåshagen, Torbjørn; Bahrami, Shahram; van der Meer, Dennis; Agartz, Ingrid; Alnæs, Dag; Barch, Deanna M.; Baur-Streubel, Ramona; Bertolino, Alessandro; Beyer, Mona K.; Blasi, Giuseppe; Borgwardt, Stefan; Boye, Birgitte; Buitelaar, Jan; Bøen, Erlend; Celius, Elisabeth Gulowsen; Cervenka, Simon; Conzelmann, Annette; Coynel, David; di Carlo, Pasquale; Djurovic, Srdjan; Eisenacher, Sarah; Espeseth, Thomas; Fatouros-Bergman, Helena; Flyckt, Lena; Franke, Barbara; Frei, Oleksandr; Gelao, Barbara; Harbo, Hanne Flinstad; Hartman, Catharina A.; Håberg, Asta; Heslenfeld, Dirk; Hoekstra, Pieter J.; Høgestøl, Einar August; Jonassen, Rune; Jönsson, Erik G.; Kirsch, Peter; Kloszewska, Iwona; Lagerberg, Trine Vik; Landrø, Nils Inge; Le Hellard, Stephanie; Lesch, Klaus-Peter; Maglanoc, Luigi Angelo; Malt, Ulrik Fredrik; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Moberget, Torgeir; Nordvik, Jan Egil; Nyberg, Lars; O’ Connell, Kevin S.; Oosterlaan, Jaap; Papalino, Marco; Papassotiropoulos, Andreas; Pauli, Paul; Pergola, Giulio; Persson, Karin; de Quervain, Dominique; Reif, Andreas; Rokicki, Jaroslav; Van Rooij, Daan; Shadrin, Alexey A.; Schmidt, André; Schwarz, Emanuel; Selbæk, Geir; Soininen, Hilkka; Sowa, Piotr; Steen, Vidar M.; Tsolaki, Magda; Vellas, Bruno; Wang, Lei; Westman, Eric; Ziegler, Georg C.; Zink, Mathias; Andreassen, Ole Andreas; Westlye, Lars Tjelta; Kaufmann, Tobias (Journal article, 2020)
      Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, ...
    • The genetic architecture of sporadic and multiple consecutive miscarriage 

      Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa; Painter, Jodie N.; Censin, Jenny C.; Laber, Samantha; Bacelis, Jonas; Chen, Chia-Yen; Lepamets, Maarja; Lin, Kuang; Liu, Siyang; Millwood, Iona Y.; Ramu, Avinash; Southcombe, Jennifer; Andersen, Marianne S.; Yang, Ling; Becker, Christian M.; Børglum, Anders D.; Gordon, Scott D.; Bybjerg-Grauholm, Jonas; Helgeland, Øyvind; Hougaard, David M.; Jin, Xin; Johansson, Stefan; Juodakis, Julius; Kartsonaki, Christina; Kukushkina, Viktorija; Lind, Penelope A.; Metspalu, Andres; Montgomery, Grant W.; Morris, Andrew P.; Mors, Ole; Mortensen, Preben B.; Njølstad, Pål Rasmus; Nordentoft, Merete; Nyholt, Dale R.; Lippincott, Margaret; Seminara, Stephanie; Salumets, Andres; Snieder, Harold; Zondervan, Krina; Werge, Thomas; Chen, Zhengming; Conrad, Donald F.; Jacobsson, Bo; Li, Liming; Martin, Nicholas G.; Neale, Benjamin M.; Nielsen, Rasmus; Walters, Robin G. (Journal article; Peer reviewed, 2020)
      Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ...
    • Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults 

      Hofer, Edith; Roshchupkin, Gennady V.; Adams, Hieab H H; Knol, Maria J.; Lin, Honghuang; Li, Shuo; Zare, Habil; Ahmad, Shahzad; Armstrong, Nicola J.; Satizabal, Claudia L.; Panizzon, Matthew S.; Andreassen, Ole Andreas; Dale, Anders M.; Logue, Mark; Grasby, Katrina L.; Van Duijn, Cornelia M.; Grabe, Hans J.; Longstreth, William T.; Fornage, Myriam; Paus, Tomas; Debette, Stephanie; Ikram, M. Arfan; Schmidt, Helena; Schmidt, Reinhold; Seshadri, Sudha; Agartz, Ingrid; Alhusaini, Saud; Almeida, Marcio A.A.; Alnæs, Dag; Amlien, Inge Kasbohm; Doan, Nhat Trung; Gurholt, Tiril Pedersen; Kaufmann, Tobias; Richard, Geneviève; Sønderby, Ida Elken; van der Meer, Dennis; Wang, Yunpeng; Westlye, Lars Tjelta; Brandt, Christine Lycke; Djurovic, Srdjan; Kolskår, Knut-Kristian; Melle, Ingrid; Nordvik, Jan Egil; Steen, Vidar Martin; Espeseth, Thomas; Håberg, Asta; Wright, Margaret J.; Zhou, Juan; Stein, Jason L.; Thompson, Paul M.; Medland, Sarah E. (Journal article; Peer reviewed, 2020)
      Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these ...
    • Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women 

      Steinthorsdottir, Valgerdur; McGinnis, Ralph; Williams, Nicholas O.; Stefánsdóttir, Lilja; Thorleifsson, Gudmar; Shooter, Scott; Fadista, João; Sigurdsson, Jon K.; Auro, Kirsi; Berezina, Galina; Borges, Maria-Carolina; Bumpstead, Suzannah; Bybjerg-Grauholm, Jonas; Colgiu, Irina; Dolby, Vivien A.; Dudbridge, Frank; Engel, Stephanie M.; Franklin, Christopher S.; Frigge, Michael L; Frisbaek, Yr; Geirsson, Reynir T.; Geller, Frank; Gretarsdottir, Solveig; Gudbjartsson, Daniel F.; Harmon, Quaker; Hougaard, David Michael; Hegay, Tatyana; Helgadottir, Anna; Hjartardóttir, Sigrún; Jääskeläinen, Tiina; Johannsdottir, Hrefna; Jonsdottir, Ingileif; Juliusdottir, Thorhildur; Kalsheker, Noor; Kasimov, Abdumadjit; Kemp, John P.; Kivinen, Katja; Klungsøyr, Kari; Lee, Wai K; Melbye, Mads; Miedzybrodska, Zosia; Moffett, Ashley; Najmutdinova, Dilbar; Nishanova, Firuza; Olafsdottir, Thorunn; Perola, Markus; Pipkin, Fiona Broughton; Poston, Lucilla; Prescott, Gordon; Saevarsdottir, Saedis; Salimbayeva, Damilya; Scaife, Paula Juliet; Skotte, Line; Staines-Urias, Eleonora; Stefansson, Olafur A.; Sørensen, Karina Meden; Thomsen, Liv Cecilie Vestrheim; Tragante, Vinicius; Trogstad, Lill; Simpson, Nigel A.B.; Aripova, Tamara; Casas, Juan P; Dominiczak, Anna F; Walker, James J.; Thorsteinsdottir, Unnur; Iversen, Ann-Charlotte; Feenstra, Bjarke; Lawlor, Deborah A.; Boyd, Heather Allison; Magnus, Per; Laivuori, Hannele; Zakhidova, Nodira; Syvatova, Gulnara; Stefansson, Kari; Morgan, Linda (Journal article; Peer reviewed, 2020)
      Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate ...