Trepo - Selaus asiasanan mukaan "1184"

Viitteet 1-20 / 32

    • Absolute copy number aware CNV calling of sub-megabase segments in ultra-low coverage single-cell DNA sequencing data 

      Kolbeinsdottir, Solrun; Zachariadis, Vasilios; Sommerauer, Christian; Lohi, Olli; Heinäniemi, Merja; Enge, Martin (23.09.2025)
      article
      Recent advances in ultra-low coverage whole-genome sequencing (WGS) of single cells have enabled detailed analysis of copy number variation at a throughput approaching that of single-cell RNA sequencing. However, downstream ...

    • Autosomal dominant tibial muscular dystrophy in Estonia 

      Sarv, Siiri; Reimand, Tiia; Õiglane-Shlik, Eve; Puusepp, Sanna; Pajusalu, Sander; Murumets, Ülle; Turku, Teemu; Põlluaas, Lisanna; Mihkla, Laura; Ütt, Sandra; Gross-Paju, Katrin; Väli, Liis; Kahre, Tiina; Savarese, Marco; Hackman, Peter; Udd, Bjarne; Õunap, Katrin (05.12.2025)
      article
      Aim: Tibial muscular dystrophy (TMD; MIM#600334, ORPHA:609) is an adult-onset, slowly progressive distal myopathy resulting from dominant variants in exon 364 of the TTN gene. The Finnish founder variant (FINmaj), characterized ...

    • A comprehensive framework for the interpretation of TTN missense variants 

      Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Udd, Bjarne (26.02.2026)
      article
      BACKGROUND: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin ...

    • A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family 

      Koponen, Laura; Pekkinen, Minna; Legebeke, Jelmer; Muurinen, Mari; Rusanen, Salla; Hussain, Shabir; Wang, Fan; Nevalainen, Pasi I.; Mäkitie, Outi (02 / 2025)
      article
      Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants ...

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

      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 ...

    • Evolving epigenomics of immune cells at single-nucleus resolution in children en route to type 1 diabetes 

      Pastinen, Tomi; Grundberg, Elin; Bradley, Todd; Honkanen, Jarno; Cheung, Warren A.; Vuorela, Arja; Johnston, Jeffrey J.; Yoo, Byunggil; Khanal, Santosh; McLennan, Rebecca; Ilonen, Jorma; Vaarala, Outi; Krischer, Jeffrey P.; Knip, Mikael (25.02.2026)
      article
      The appearance of diabetes-associated autoantibodies is the first detectable sign of the disease process leading to type 1 diabetes (T1D). Evidence suggests that T1D is a heterogenous disease, where the type of antibodies ...

    • Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis 

      Niuro, Laura; Ojala, Johanna; Ravi, Rowmika; Melnyk, Vladyslav; Linnossuo, Veli; Palmu, Sofia; Jännäri, Meeri; Tyystjärvi, Sofia; Löf, Christoffer; Patyra, Konrad; Makkonen, Kristiina; Jääskeläinen, Jarmo; Danner, Emmi; Huopio, Hanna; Niinikoski, Harri; Viikari, Liisa; Kero, Andreina; Miettinen, Päivi; Schoenmakers, Nadia; Reeve, Mary Pat; Kero, Jukka (2026)
      article
      BACKGROUND: Defects in thyroid hormone synthesis at birth lead to congenital hypothyroidism (CH). Recently, pathogenic variants in the SLC26A7 gene have been linked to dyshormonogenetic goitrous CH. This anion transporter ...

    • 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)
      reviewarticle
      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 ...

    • Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome 

      Moolhuijsen, Loes M.E.; Zhu, Jia; Mullin, Benjamin H.; Pujol-Gualdo, Natàlia; Actkins, Ky’Era V.; Mack, Jasmine A.; Rao, Hridya; Trivedi, Bhavi; Kentistou, Katherine A.; Zhao, Yajie; Westergaard, David; Tyrmi, Jaakko S.; Thorleifsson, Gudmar; Zhang, Yanfei; Wittemans, Laura; DeVries, Amber; Brewer, Kelly; Sisk, Ryan; Danning, Rebecca; Preuss, Michael H.; Jones, Michelle R.; Ruth, Katherine S.; Andersen, Marianne; Azziz, Ricardo; Banasik, Karina; Boehnke, Michael; Broer, Linda; Brunak, Søren; Chan, Yee Ming; Chasman, Daniel I.; Daly, Mark; Ehrmann, David A.; Fauser, Bart C.; Fritsche, Lars G.; Hayes, M. Geoffrey; He, Chunyan; Huang, Hongyan; Kowalska, Irina; Kraft, Peter; Legro, Richard S.; Lin, Nan; Loos, Ruth J.; Louwers, Yvonne V.; Magi, Reedik; McCarthy, Mark I.; Morin-Papunen, Laure; Morrison, Jean V.; Morton, Cynthia; Nadkarni, Girish N.; Laivuori, Hannele (2026)
      article
      Polycystic ovary syndrome (PCOS) and its underlying features remain poorly understood. In this genetic study (n = 544,513), we expand the number of genetic loci from 16 to 29, and additionally identify 31 associated plasma ...

    • Large-scale blood pressure GWAS accounting for gene-depression interactions in 564,680 individuals from diverse populations 

      Lee, Songmi; Miller, Clint L.; Bentley, Amy R.; Brown, Michael R.; Nagarajan, Pavithra; Noordam, Raymond; Morrison, John L.; Schwander, Karen; Westerman, Kenneth; Kho, Minjung; Kraja, Aldi T.; de Vries, Paul S.; Ammous, Farah; Aschard, Hughes; Bartz, Traci M.; Do, Anh; Dupont, Charles T.; Feitosa, Mary F.; Gudmundsdottir, Valborg; Guo, Xiuqing; Harris, Sarah E.; Hikino, Keiko; Huang, Zhijie; Lefevre, Christophe; Lyytikäinen, Leo Pekka; Milaneschi, Yuri; Nardone, Giuseppe Giovanni; Santin, Aurora; Schmidt, Helena; Shen, Botong; Sofer, Tamar; Sun, Quan; Tan, Ye An; Tang, Jingxian; Thériault, Sébastien; van der Most, Peter J.; Ware, Erin B.; Weiss, Stefan; Xing, Wang Ya; Yu, Chenglong; Zhao, Wei; Ansari, Md Abu Yusuf; Anugu, Pramod; Attia, John R.; Bazzano, Lydia A.; Bis, Joshua C.; Breyer, Max; Cade, Brian; Chen, Guanjie; Collins, Stacey; Corley, Janie; Kähönen, Mika; Lehtimäki, Terho (09.04.2026)
      article
      Gene-environment interactions may enhance our understanding of blood pressure (BP) biology. We conducted a meta-analysis of multi-population genome-wide association studies (GWASs) of BP traits accounting for gene-depressive ...

    • A Longitudinal Study of the Bidirectional Temporal Dynamics Between Body Mass Index and Biological Aging 

      Ler, Peggy; Mak, Jonathan K  L; Reynolds, Chandra A; Ploner, Alexander; Pedersen, Nancy L; Jylhävä, Juulia; Dahl Aslan, Anna K; Finkel, Deborah; Karlsson, Ida K (06 / 2025)
      article
      Background: Obesity and aging share biological processes, but their relationship remains unclear, especially in late life. Understanding how body mass index (BMI) and biological aging influence each other can guide strategies ...

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

      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 ...

    • 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 ...

    • mTOR signaling regulates demand-adapted hematopoiesis and metabolic reprogramming required for an effective cellular immune response in Drosophila melanogaster larvae 

      Anderl, Ines; Ekström, Jens Ola; Tuomela, Tea; Rämet, Mika; Salminen, Tiina Susanna; Vesala, Laura (03 / 2026)
      article
      The evolutionarily conserved mechanistic Target of Rapamycin (mTOR) pathway connects energy and nutrient availability to growth, proliferation, differentiation, immunity and survival. Here, we investigated the role of the ...

    • 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 tko<sup>25t</sup> mitochondrial protein-synthesis mutant 

      Jacobs, Howard T.; Tuomela, Tea; Lillsunde, Päivi (06 / 2023)
      article
      &lt;p&gt;The Drosophila tko&lt;sup&gt;25t&lt;/sup&gt; point mutation in the gene encoding mitoribosomal protein S12 produces a complex phenotype of multiple respiratory chain deficiency, developmental delay, bang-sensitivity, ...