"1184 Genetics, developmental biology, physiology" - Selaus asiasanan mukaan TUNICRIS-julkaisut

Viitteet 1-18 / 18

    • Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes 

      Estonian Biobank Research Team; FinnGen; Elliott, Amanda; Walters, Raymond K.; Pirinen, Matti; Kurki, Mitja; Junna, Nella; Goldstein, Jacqueline I.; Reeve, Mary Pat; Siirtola, Harri; Lemmelä, Susanna M.; Turley, Patrick; Lahtela, Elisa; Mehtonen, Juha; Reis, Kadri; Elnahas, Abdelrahman G.; Reigo, Anu; Palta, Priit; Esko, Tõnu; Mägi, Reedik; Palotie, Aarno; Daly, Mark J.; Widén, Elisabeth (03 / 2024)
      article
      Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide 1,2. GDM is related to an increased lifetime risk of type 2 diabetes (T2D) 1–3, with over a ...

    • Does the effect of adolescent health behaviours on adult cardiometabolic health differ by socioeconomic background? : Protocol for a population-based cohort study 

      Jackisch, Josephine; Noor, Nazihah; Raitakari, Olli T.; Lehtimäki, Terho; Kähönen, Mika; Cullati, Stéphane; Delpierre, Cyrille; Kivimäki, Mika; Carmeli, Cristian (28.05.2024)
      article
      Introduction Adolescence is a sensitive period for cardiometabolic health. Yet, it remains unknown if adolescent health behaviours, such as alcohol use, smoking, diet and physical activity, have differential effects across ...

    • Gene expression networks regulated by human personality 

      del Val, Coral; Díaz de la Guardia-Bolívar, Elisa; Zwir, Igor; Mishra, Pashupati P.; Mesa, Alberto; Salas, Ramiro; Poblete, Guillermo F.; de Erausquin, Gabriel; Raitoharju, Emma; Kähönen, Mika; Raitakari, Olli; Keltikangas-Järvinen, Liisa; Lehtimäki, Terho; Cloninger, Claude Robert (2024)
      review
      Genome-wide association studies of human personality have been carried out, but transcription of the whole genome has not been studied in relation to personality in humans. We collected genome-wide expression profiles of ...

    • Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci 

      FinnGen; Pasanen, Anu; Karjalainen, Minna K.; Zhang, Ge; Tiensuu, Heli; Haapalainen, Antti M.; Ojaniemi, Marja; Feenstra, Bjarke; Jacobsson, Bo; Palotie, Aarno; Laivuori, Hannele; Muglia, Louis J.; Rämet, Mika; Hallman, Mikko (23.10.2023)
      article
      Background Preterm birth (<37 weeks of gestation) is a major cause of neonatal death and morbidity. Up to 40% of the variation in timing of birth results from genetic factors, mostly due to the maternal genome. Methods We ...

    • Metabolic syndrome and epigenetic aging : a twin study 

      Föhr, Tiina; Hendrix, Arne; Kankaanpää, Anna; Laakkonen, Eija K.; Kujala, Urho; Pietiläinen, Kirsi H.; Lehtimäki, Terho; Kähönen, Mika; Raitakari, Olli; Wang, Xiaoling; Kaprio, Jaakko; Ollikainen, Miina; Sillanpää, Elina (2024)
      article
      Background: Metabolic syndrome (MetS) is associated with premature aging, but whether this association is driven by genetic or lifestyle factors remains unclear. Methods: Two independent discovery cohorts, consisting of ...

    • Molecular basis of JAK2 activation in erythropoietin receptor and pathogenic JAK2 signaling 

      Abraham, Bobin George; Haikarainen, Teemu; Vuorio, Joni; Girych, Mykhailo; Virtanen, Anniina T.; Kurttila, Antti; Karathanasis, Christos; Heilemann, Mike; Sharma, Vivek; Vattulainen, Ilpo; Silvennoinen, Olli (03 / 2024)
      article
      Janus kinase 2 (JAK2) mediates type I/II cytokine receptor signaling, but JAK2 is also activated by somatic mutations that cause hematological malignancies by mechanisms that are still incompletely understood. Quantitative ...

    • Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease : a preliminary study 

      Zou, Jing; Zhang, Guoping; Li, Hongbin; Zhao, Zikai; Zhang, Qing; Pyykkö, Ilmari; Mäkitie, Antti (2023)
      article
      Background: The mechanisms of Meniere's disease (MD) remain largely unknown. The purpose of this study was to identify possible genetic variants associated with immune regulation in MD. Methods: The whole immune genome of ...

    • Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle 

      Laitila, Jenni; Seaborne, Robert A.E.; Ranu, Natasha; Kolb, Justin S.; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Zanoteli, Edmar; Palmio, Johanna; Huovinen, Sanna; Granzier, Henk; Ochala, Julien (2024)
      article
      Abstract: Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene (NEB-NM) and with muscle myosin dysfunction as a major molecular pathogenic mechanism. Recently, we have observed ...

    • NMR metabolomic modeling of age and lifespan : A multicohort analysis 

      Lau, Chung Ho E.; Manou, Maria; Markozannes, Georgios; Ala-Korpela, Mika; Ben-Shlomo, Yoav; Chaturvedi, Nish; Engmann, Jorgen; Gentry-Maharaj, Aleksandra; Herzig, Karl Heinz; Hingorani, Aroon; Järvelin, Marjo Riitta; Kähönen, Mika; Kivimäki, Mika; Lehtimäki, Terho; Marttila, Saara; Menon, Usha; Munroe, Patricia B.; Palaniswamy, Saranya; Providencia, Rui; Raitakari, Olli; Schmidt, Amand Floriaan; Sebert, Sylvain; Wong, Andrew; Vineis, Paolo; Tzoulaki, Ioanna; Robinson, Oliver (2024)
      article
      Metabolomic age models have been proposed for the study of biological aging, however, they have not been widely validated. We aimed to assess the performance of newly developed and existing nuclear magnetic resonance ...

    • Nuclear genetic background influences the phenotype of the Drosophila tko25t mitochondrial protein-synthesis mutant 

      Jacobs, Howard T.; Tuomela, Tea; Lillsunde, Päivi (06 / 2023)
      article
      The Drosophila tko25t point mutation in the gene encoding mitoribosomal protein S12 produces a complex phenotype of multiple respiratory chain deficiency, developmental delay, bang-sensitivity, impaired hearing, sugar and ...

    • Polygenic risk for depression predicting temperament trajectories over 15 years – A general population study 

      Lavonius, Veikka; Keltikangas-Järvinen, Liisa; Hamal Mishra, Binisha; Sormunen, Elina; Kähönen, Mika; Raitakari, Olli; Hietala, Jarmo; Cloninger, C. Robert; Lehtimäki, Terho; Saarinen, Aino (01.04.2024)
      article
      Background: A great number of case-control and population-based studies have shown that depression patients differ from healthy controls in their temperament traits. We investigated whether polygenic risk for depression ...

    • The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections 

      Jones, Samuel E.; Maisha, Fahrisa; Strausz, Satu; Lammi, Vilma; Cade, Brian E; Siirtola, Harri (08.06.2023)
      article
      Background Poor sleep is associated with an increased risk of infections and all-cause mortality but the causal direction between poor sleep and respiratory infections has remained unclear. We examined if poor sleep ...

    • Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C-reactive protein in white British population 

      Li, Xia; Ploner, Alexander; Wang, Yunzhang; Mak, Jonathan K.L.; Lu, Yi; Magnusson, Patrik K.E.; Jylhävä, Juulia; Hägg, Sara (2023)
      article
      Background: C-reactive protein (CRP) is a sensitive biomarker of inflammation with moderate heritability. The role of rare functional genetic variants in relation to serum CRP is understudied. We aimed to examine gene ...

    • Revealing myopathy spectrum : integrating transcriptional and clinical features of human skeletal muscles with varying health conditions 

      Zhong, Huahua; Sian, Veronica; Johari, Mridul; Katayama, Shintaro; Oghabian, Ali; Jonson, Per Harald; Hackman, Peter; Savarese, Marco; Udd, Bjarne (2024)
      article
      Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data ...

    • Sodium channels enable fast electrical signaling and regulate phagocytosis in the retinal pigment epithelium 

      Johansson, Julia K.; Jokinen, Viivi; Hakanen, Satu; Jylhä, Antti; Uusitalo, Hannu; Vihinen-Ranta, Maija; Skottman, Heli; Ihalainen, Teemu O.; Nymark, Soile (2019)
      article
      Background: Voltage-gated sodium (Nav) channels have traditionally been considered a trademark of excitable cells. However, recent studies have shown the presence of Nav channels in several non-excitable cells, such as ...

    • Subclinical atherosclerosis in young adults predicting cardiovascular disease : The Cardiovascular Risk in Young Finns Study 

      Raitakari, Olli T.; Magnussen, Costan G.; Juonala, Markus; Kartiosuo, Noora; Pahkala, Katja; Rovio, Suvi; Koskinen, Juhani S.; Mykkänen, Juha; Laitinen, Tomi P.; Kähönen, Mika; Nuotio, Joel; Viikari, Jorma S.A. (2024)
      article
      Background and aims: Atherosclerosis is accompanied by pre-clinical vascular changes that can be detected using ultrasound imaging. We examined the value of such pre-clinical features in identifying young adults who are ...

    • Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes 

      Early Growth Genetics Consortium; Bradfield, Jonathan P.; Kember, Rachel L.; Ulrich, Anna; Balkiyarova, Zhanna; Alyass, Akram; Aris, Izzuddin M.; Bell, Joshua A.; Broadaway, K. Alaine; Chen, Zhanghua; Chai, Jin Fang; Davies, Neil M.; Fernandez-Orth, Dietmar; Bustamante, Mariona; Fore, Ruby; Ganguli, Amitavo; Heiskala, Anni; Hottenga, Jouke Jan; Íñiguez, Carmen; Kobes, Sayuko; Leinonen, Jaakko; Lowry, Estelle; Lyytikainen, Leo Pekka; Mahajan, Anubha; Pitkänen, Niina; Schnurr, Theresia M.; Have, Christian Theil; Strachan, David P.; Thiering, Elisabeth; Vogelezang, Suzanne; Wade, Kaitlin H.; Wang, Carol A.; Wong, Andrew; Holm, Louise Aas; Chesi, Alessandra; Choong, Catherine; Cruz, Miguel; Elliott, Paul; Franks, Steve; Frithioff-Bøjsøe, Christine; Gauderman, W. James; Glessner, Joseph T.; Gilsanz, Vicente; Griesman, Kendra; Hanson, Robert L.; Kähönen, Mika; Mononen, Nina; Eriksson, Johan G.; Lehtimäki, Terho; Mykkänen, Juha; Shepherd, John A. (16.01.2024)
      article
      BACKGROUND: Pubertal growth patterns correlate with future health outcomes. However, the genetic mechanisms mediating growth trajectories remain largely unknown. Here, we modeled longitudinal height growth with Super-Imposition ...

    • X-chromosome and kidney function : evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements 

      Scholz, Markus; Horn, Katrin; Pott, Janne; Wuttke, Matthias; Kühnapfel, Andreas; Nasr, M Kamal; Kirsten, Holger; Li, Yong; Hoppmann, Anselm; Gorski, Mathias; Ghasemi, Sahar; Li, Man; Tin, Adrienne; Chai, Jin-Fang; Cocca, Massimiliano; Wang, Judy; Nutile, Teresa; Akiyama, Masato; Åsvold, Bjørn Olav; Bansal, Nisha; Biggs, Mary L; Boutin, Thibaud; Brenner, Hermann; Brumpton, Ben; Burkhardt, Ralph; Cai, Jianwen; Campbell, Archie; Campbell, Harry; Chalmers, John; Chasman, Daniel I; Chee, Miao Ling; Chee, Miao Li; Chen, Xu; Cheng, Ching-Yu; Cifkova, Renata; Daviglus, Martha; Delgado, Graciela; Dittrich, Katalin; Edwards, Todd L; Endlich, Karlhans; Michael Gaziano, J; Giri, Ayush; Giulianini, Franco; Gordon, Scott D; Gudbjartsson, Daniel F; Hallan, Stein; Hamet, Pavel; Hartman, Catharina A; Hayward, Caroline; Heid, Iris M; Hellwege, Jacklyn N; Holleczek, Bernd; Holm, Hilma; Hutri-Kähönen, Nina; Hveem, Kristian; Isermann, Berend; Jonas, Jost B; Joshi, Peter K; Kamatani, Yoichiro; Kanai, Masahiro; Kastarinen, Mika; Khor, Chiea Chuen; Kiess, Wieland; Kleber, Marcus E; Körner, Antje; Kovacs, Peter; Krajcoviechova, Alena; Kramer, Holly; Krämer, Bernhard K; Kuokkanen, Mikko; Kähönen, Mika; Lange, Leslie A; Lash, James P; Lehtimäki, Terho; Li, Hengtong; Lin, Bridget M; Liu, Jianjun; Loeffler, Markus; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K E; Martin, Nicholas G; Matsuda, Koichi; Milaneschi, Yuri; Mishra, Pashupati P; Mononen, Nina; Montgomery, Grant W; Mook-Kanamori, Dennis O; Mychaleckyj, Josyf C; März, Winfried; Nauck, Matthias; Nikus, Kjell; Nolte, Ilja M; Noordam, Raymond; Okada, Yukinori; Olafsson, Isleifur; Oldehinkel, Albertine J; Penninx, Brenda W J H; Perola, Markus; Pirastu, Nicola; Polasek, Ozren; Porteous, David J; Poulain, Tanja; Psaty, Bruce M; Rabelink, Ton J; Raffield, Laura M; Raitakari, Olli T; Rasheed, Humaira; Reilly, Dermot F; Rice, Kenneth M; Richmond, Anne; Ridker, Paul M; Rotter, Jerome I; Rudan, Igor; Sabanayagam, Charumathi; Salomaa, Veikko; Schneiderman, Neil; Schöttker, Ben; Sims, Mario; Snieder, Harold; Stark, Klaus J; Stefansson, Kari; Stocker, Hannah; Stumvoll, Michael; Sulem, Patrick; Sveinbjornsson, Gardar; Svensson, Per O; Tai, E-Shyong; Taylor, Kent D; Tayo, Bamidele O; Teren, Andrej; Tham, Yih-Chung; Thiery, Joachim; Thio, Chris H L; Thomas, Laurent F; Tremblay, Johanne; Tönjes, Anke; van der Most, Peter J; Vitart, Veronique; Völker, Uwe; Wang, Ya Xing; Wang, Chaolong; Wei, Wen Bin; Whitfield, John B; Wild, Sarah H; Wilson, James F; Winkler, Thomas W; Wong, Tien-Yin; Woodward, Mark; Sim, Xueling; Chu, Audrey Y; Feitosa, Mary F; Thorsteinsdottir, Unnur; Hung, Adriana M; Teumer, Alexander; Franceschini, Nora; Parsa, Afshin; Köttgen, Anna; Schlosser, Pascal; Pattaro, Cristian (18.01.2024)
      article
      X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis ...