Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Mikko R J, Seppänen"'
Publikováno v:
Frontiers in Immunology, Vol 13 (2023)
Externí odkaz:
https://doaj.org/article/771891d29d9c42fd8d6fec6804148f0e
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:
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:
Aziz Bousfiha, Abderrahmane Moundir, Stuart G. Tangye, Capucine Picard, Leïla Jeddane, Waleed Al-Herz, Charlotte C. Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Anne Puel, Jennifer Puck, Mikko R. J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts
Publikováno v:
Journal of Clinical Immunology. 42:1508-1520
The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5d280b664502786f455cfb9351a411d
https://doi.org/10.1007/s10875-022-01352-z
https://doi.org/10.1007/s10875-022-01352-z
Autor:
Maaria Palmroth, Hanna Viskari, Mikko R. J. Seppänen, Salla Keskitalo, Anniina Virtanen, Markku Varjosalo, Olli Silvennoinen, Pia Isomäki
Publikováno v:
Pharmaceuticals, Vol 14, Iss 8, p 797 (2021)
Interferon regulatory factor 2 binding protein 2 (IRF2BP2) is a transcriptional coregulator that has an important role in the regulation of the immune response. IRF2BP2 has been associated with the Janus kinase (JAK)—signal transducers and activato
Externí odkaz:
https://doaj.org/article/5a54307a1b804ca0bbf1f56014a45af7
Autor:
Salla Keskitalo, Emma Haapaniemi, Elisabet Einarsdottir, Kristiina Rajamäki, Hannele Heikkilä, Mette Ilander, Minna Pöyhönen, Ekaterina Morgunova, Kati Hokynar, Sonja Lagström, Sirpa Kivirikko, Satu Mustjoki, Kari Eklund, Janna Saarela, Juha Kere, Mikko R. J. Seppänen, Annamari Ranki, Katariina Hannula-Jouppi, Markku Varjosalo
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Upon binding to pathogen or self-derived cytosolic nucleic acids cyclic GMP-AMP synthase (cGAS) triggers the production of cGAMP that further activates transmembrane protein STING. Upon activation STING translocates from ER via Golgi to vesicles. Mon
Externí odkaz:
https://doaj.org/article/775d1ce795a544fdb1edecb38e84d4c0
Autor:
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
Funding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e214c1af43f2e99ff7514cb950f136
https://hdl.handle.net/10362/152437
https://hdl.handle.net/10362/152437
Autor:
Wenny Santaniemi, Pirjo Åström, Virpi Glumoff, Nora Pernaa, Ella-Noora Tallgren, Sanna Palosaari, Antti Nissinen, Meri Kaustio, Outi Kuismin, Janna Saarela, Katariina Nurmi, Kari K. Eklund, Mikko R. J. Seppänen, Timo Hautala
Loss-of-function (LOF) mutations in NFKB1, coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. Monoallelic LOF variants of NFKB1 can pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2482defdbbc9bfe21e6acdaa969094e6
http://urn.fi/urn:nbn:fi-fe2023052648387
http://urn.fi/urn:nbn:fi-fe2023052648387
Autor:
Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R. J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts
Publikováno v:
Journal of clinical immunology, vol 42, iss 7
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e0d21fb53ff0d2668bb3bf7fd79cb1
http://hdl.handle.net/10138/351462
http://hdl.handle.net/10138/351462
Autor:
Paul Ryan, Vyanka Redenbaugh, Jayne McGucken, Gerhard Kindle, Lisa A. Devlin, Tanya Coulter, Matthew S. Buckland, Mikko R. J. Seppänen, Niall P. Conlon, Conleth Feighery, J. David M. Edgar
The epidemiology of inborn errors of immunity (IEI) in the Republic of Ireland was first published in 2005 but has not been updated since. IEI prevalence data from Northern Ireland was last published in 2018. Using data from the United Kingdom Primar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee615014cc7b447c79393b37b2b28e9
http://hdl.handle.net/10138/349909
http://hdl.handle.net/10138/349909