Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Outi Kuismin"'
Autor:
Hanna Jaula, Lauri Mattila, Elisa Lappi-Blanco, Johanna Salonen, Hannu Vähänikkilä, Lauri Ahvenjärvi, Jukka S. Moilanen, Outi Kuismin, Terttu Harju, Riitta Kaarteenaho
Publikováno v:
Respiratory Research, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background In familial pulmonary fibrosis (FPF) at least two biological relatives are affected. Patients with FPF have diverse clinical features. Research question We aimed to characterize demographic and clinical features, re-evaluate high-
Externí odkaz:
https://doaj.org/article/597741b281f54d54b76b1bddcaa7ae9d
Autor:
Susanna Nousiainen, Outi Kuismin, Siiri Reinikka, Roosa Manninen, Sara Khamaiseh, Mari Kuivalainen, Anna Terho, Sari Koivurova, Maarit Niinimäki, Kari Salokas, Markku Varjosalo, Anne Ahtikoski, Ralf Bützow, Outi Lindgren, Outi Uimari, Pia Vahteristo
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Abstract Background Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of heritability is well es
Externí odkaz:
https://doaj.org/article/6dacf57f4e0f49a8840d6d3a6215fa94
Autor:
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Publikováno v:
PLoS Genetics, Vol 19, Iss 8, p e1010889 (2023)
Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer suscepti
Externí odkaz:
https://doaj.org/article/39bcaeff36374f21a232d35722e005e7
Autor:
Aurora Taira, Kimmo Palin, Anna Kuosmanen, Niko Välimäki, Outi Kuittinen, Outi Kuismin, Eevi Kaasinen, Kristiina Rajamäki, Lauri A. Aaltonen
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-13 (2023)
Abstract Background Accurate regulation of DNA methylation is necessary for normal cells to differentiate, develop and function. TET2 catalyzes stepwise DNA demethylation in hematopoietic cells. Mutations in the TET2 gene predispose to hematological
Externí odkaz:
https://doaj.org/article/e9a7e3b89fd54829af3b590f0b2a106b
Autor:
Ralda Nehme, Olli Pietiläinen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen, Christina Bell, Tarjinder Singh, Aditi Trehan, John Sherwood, Danielle Manning, Emily Peirent, Rhea Malik, Ellen J. Guss, Derek Hawes, Amanda Beccard, Anne M. Bara, Dane Z. Hazelbaker, Emanuela Zuccaro, Giulio Genovese, Alexander A. Loboda, Anna Neumann, Christina Lilliehook, Outi Kuismin, Eija Hamalainen, Mitja Kurki, Christina M. Hultman, Anna K. Kähler, Joao A. Paulo, Andrea Ganna, Jon Madison, Bruce Cohen, Donna McPhie, Rolf Adolfsson, Roy Perlis, Ricardo Dolmetsch, Samouil Farhi, Steven McCarroll, Steven Hyman, Ben Neale, Lindy E. Barrett, Wade Harper, Aarno Palotie, Mark Daly, Kevin Eggan
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
How the 22q11.2 deletion predisposes to psychiatric disease is unclear. Here, the authors examine living human neuronal cells and show that 22q11.2 regulates the expression of genes linked to autism during early development, and genes linked to schiz
Externí odkaz:
https://doaj.org/article/0268f31356f54488b25b24160fcce4bc
Autor:
Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
PurposeFINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first h
Externí odkaz:
https://doaj.org/article/a15fd5005cc54d2da58d74123763ff5c
Autor:
Aleksi Laajala, Outi Kuismin, Mikko Tastula, Leena Tiitto, Saila Kauppila, Anna Salo, Pirjo Åström, Antti Nissinen, Virpi Glumoff, Mikko R. J. Seppänen, Timo Hautala
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 16, Iss 1, Pp 1-6 (2020)
Abstract Background Rare tonsillar granulomas may be caused for example by infections, malignancies or sarcoidosis. Granulomas also occur in inborn errors of immunity (IEI) such as common variable immunodeficiency (CVID) with B cell maturation defect
Externí odkaz:
https://doaj.org/article/8eb72a36b1314cb9a765c2225361805c
Autor:
Minna Honkila, Riitta Niinimäki, Mervi Taskinen, Outi Kuismin, Kaisa Kettunen, Janna Saarela, Sami Turunen, Marjo Renko, Terhi Tapiainen
Publikováno v:
BMC Infectious Diseases, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Symptomatic primary Epstein-Barr virus infection is a usually self-limiting illness in adolescents. We present a case of an adolescent who had been receiving azathioprine for inflammatory bowel disease for four years and developed
Externí odkaz:
https://doaj.org/article/66d0326654164f04ae48b1d92236d439
Autor:
Eevi Kaasinen, Outi Kuismin, Kristiina Rajamäki, Heikki Ristolainen, Mervi Aavikko, Johanna Kondelin, Silva Saarinen, Davide G. Berta, Riku Katainen, Elina A. M. Hirvonen, Auli Karhu, Aurora Taira, Tomas Tanskanen, Amjad Alkodsi, Minna Taipale, Ekaterina Morgunova, Kaarle Franssila, Rainer Lehtonen, Markus Mäkinen, Kristiina Aittomäki, Aarno Palotie, Mitja I. Kurki, Olli Pietiläinen, Morgane Hilpert, Elmo Saarentaus, Jaakko Niinimäki, Juhani Junttila, Kari Kaikkonen, Pia Vahteristo, Radek C. Skoda, Mikko R. J. Seppänen, Kari K. Eklund, Jussi Taipale, Outi Kilpivaara, Lauri A. Aaltonen
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, fi
Externí odkaz:
https://doaj.org/article/46989eed5d5545f397b38c9c2843f70f
Autor:
Mitja I. Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen-Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen–Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Various types of genetic variation contribute to the etiology of intellectual disability (ID). Here, the authors study a cohort of ID patients enriched for mild ID from Finland, to investigate contributions of rare and common variants associated with
Externí odkaz:
https://doaj.org/article/ab9e0271d0224acca582195c7d5d71d8