Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Kaarina Heiskanen"'
Autor:
Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple A
Externí odkaz:
https://doaj.org/article/ea51798fe2ea4e9f8834bf9e0e71c48c
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Autor:
Juha Grönholm, Elina Tuovinen, Sakari Pöysti, Firas Hamdan, Kaarina Heiskanen, Markku Varjosalo, Vincenzo Cerullo, Kere Juha, Mikko Seppänen, Arno Hänninen
Publikováno v:
Clinical Immunology. 250:109507
Autor:
Elina A. Tuovinen, Sakari Pöysti, Firas Hamdan, Kim My Le, Salla Keskitalo, Tanja Turunen, Léa Minier, Nanni Mamia, Kaarina Heiskanen, Markku Varjosalo, Vincenzo Cerullo, Juha Kere, Mikko R. J. Seppänen, Arno Hänninen, Juha Grönholm
Publikováno v:
Journal of clinical immunology.
Abnormally high gamma delta T cell numbers among individuals with atypical SCID have been reported but detailed immunopheno typing and functional characterization of these expanded gamma delta T cells are limited. We have previously reported atypical
Autor:
Etienne, Masle-Farquhar, Katherine J L, Jackson, Timothy J, Peters, Ghamdan, Al-Eryani, Mandeep, Singh, Kathryn J, Payne, Geetha, Rao, Danielle T, Avery, Gabrielle, Apps, Jennifer, Kingham, Christopher J, Jara, Ksenia, Skvortsova, Alexander, Swarbrick, Cindy S, Ma, Daniel, Suan, Gulbu, Uzel, Ignatius, Chua, Jennifer W, Leiding, Kaarina, Heiskanen, Kahn, Preece, Leena, Kainulainen, Michael, O'Sullivan, Megan A, Cooper, Mikko R J, Seppänen, Satu, Mustjoki, Shannon, Brothers, Tiphanie P, Vogel, Robert, Brink, Stuart G, Tangye, Joanne H, Reed, Christopher C, Goodnow
Publikováno v:
Immunity. 55(12)
The association between cancer and autoimmune disease is unexplained, exemplified by T cell large granular lymphocytic leukemia (T-LGL) where gain-of-function (GOF) somatic STAT3 mutations correlate with co-existing autoimmunity. To investigate wheth
Autor:
Etienne Masle-Farquhar, Katherine J.L. Jackson, Timothy J. Peters, Ghamdan Al-Eryani, Mandeep Singh, Kathryn J. Payne, Geetha Rao, Gabrielle Apps, Jennifer Kingham, Christopher J. Jara, Ksenia Skvortsova, Alexander Swarbrick, Cindy S. Ma, Daniel Suan, Gulbu Uzel, Ignatius Chua, Jennifer W. Leiding, Kaarina Heiskanen, Kahn Preece, Leena Kainulainen, Michael O’Sullivan, Megan A. Cooper, Mikko R.J. Seppänen, Satu Mustjoki, Shannon Brothers, Tiphanie P. Vogel, Robert Brink, Stuart G. Tangye, Joanne H. Reed, Christopher C. Goodnow
SUMMARYThe association between cancer and autoimmune disease is unexplained, exemplified by T-cell large granular lymphocytic leukemia (T-LGL) where gain-of-function somatic mutations inSTAT3correlate with co-existing autoimmunity. To resolve whether
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f8f08b917b93ea3f879bbfce82dd0b8
https://doi.org/10.1101/2022.02.11.480027
https://doi.org/10.1101/2022.02.11.480027
Autor:
Janna Saarela, Sanna Toiviainen-Salo, James W. Verbsky, Arno Hänninen, Sakari Pöysti, Juha Grönholm, Elina A. Tuovinen, Markku Varjosalo, Satu Mustjoki, Juha Kere, Kaarina Heiskanen, John M. Routes, Raine Toivonen, Anna Kreutzman, Tiina Öhman, Mikko Seppänen, Luca Trotta
Publikováno v:
Journal of Clinical Immunology
Hypomorphic IL2RG mutations may lead to milder phenotypes than X-SCID, named variably as atypical X-SCID or X-CID. We report an 11-year-old boy with a novel c. 172C>T;p.(Pro58Ser) mutation in IL2RG, presenting with atypical X-SCID phenotype. We also
Autor:
Etienne Masle-Farquhar, Timothy Peters, Katherine JL Jackson, Mandeep Singh, Cindy S Ma, Daniel Suan, Gulbu Uzel, Ignatius Chua, Jennifer W Leiding, Kaarina Heiskanen, Kahn Preece, Leena Kainulainen, Michael O’Sullivan, Megan A Cooper, Mikko RJ Seppänen, Satu Mustjoki, Shannon Brothers, Tiphanie P Vogel, Robert Brink, Stuart G Tangye, Joanne H Reed, Christopher C Goodnow
SUMMARYDysregulated STAT3 signalling is correlated with antibody-mediated autoimmunity and B- cell neoplasia, but its effect on B cells is underexplored. Here we address this in children with STAT3 gain-of-function (GOF) syndrome and in mice with STA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::334294ffd7b6ae1ab3b75ae261f31c16
https://doi.org/10.1101/2021.12.20.473595
https://doi.org/10.1101/2021.12.20.473595
Autor:
Etienne Masle-Farquhar, Timothy J. Peters, Katherine JL Jackson, Mandeep Singh, Cindy S. Ma, Daniel Suan, Gulbu Uzel, Ignatius Chua, Jennifer W. Leiding, Kaarina Heiskanen, Kahn Preece, Leena Kainulainen, Michael O’Sullivan, Megan A. Cooper, Mikko RJ Seppänen, Satu Mustjoki, Shannon Brothers, Tiphanie P. Vogel, Robert Brink, Stuart G. Tangye, Joanne H. Reed, Christopher C. Goodnow
Publikováno v:
SSRN Electronic Journal.
Autor:
Hanna Rajala, Satu Mustjoki, Markku Varjosalo, Mikko Seppänen, Salla Keskitalo, Panu E. Kovanen, Jouko Lohi, Juha Kere, Xiaonan Liu, Christopher L. Fogarty, Virpi Glumoff, Emma Haapaniemi, Yenan T. Bryceson, Ville Lehtinen, Samuel C. C. Chiang, Kaarina Heiskanen
Publikováno v:
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-7 (2019)
NPJ Genomic Medicine
NPJ Genomic Medicine
Mutations in several proteins functioning as endolysosomal components cause monogenic autoimmune diseases, of which pathogenesis is linked to increased endoplasmic reticulum stress, inefficient autophagy, and defective recycling of immune receptors.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254815987a8e444582ac34b7468720a5
http://hdl.handle.net/10138/308073
http://hdl.handle.net/10138/308073