Zobrazeno 1 - 10
of 978
pro vyhledávání: '"Marcin L"'
Autor:
Jia-Yuan Zhang, Fiona Hamey, Dominik Trzupek, Marius Mickunas, Mercede Lee, Leila Godfrey, Jennie H. M. Yang, Marcin L. Pekalski, Jane Kennet, Frank Waldron-Lynch, Mark L. Evans, Timothy I. M. Tree, Linda S. Wicker, John A. Todd, Ricardo C. Ferreira
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Low-dose interleukin-2 is showing promise in the treatment of several autoimmune inflammatory diseases. Here authors map the trajectory of cellular and transcriptional changes in type 1 diabetes patients receiving an interval dosing interleukin-2 reg
Externí odkaz:
https://doaj.org/article/1cbfc186befb4c289f8694e2f8ebe72c
Autor:
Niina Sandholm, Arcadio Rubio García, Marcin L. Pekalski, Jamie R. J. Inshaw, Antony J. Cutler, John A. Todd
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract We recently mapped a genetic susceptibility locus on chromosome 6q22.33 for type 1 diabetes (T1D) diagnosed below the age of 7 years between the PTPRK and thymocyte-selection-associated (THEMIS) genes. As the thymus plays a central role in s
Externí odkaz:
https://doaj.org/article/b8467bba9920488788059b947110bd92
Autor:
Dominika Oziębło, Marcin L. Leja, Michal Lazniewski, Anna Sarosiak, Grażyna Tacikowska, Krzysztof Kochanek, Dariusz Plewczynski, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked wi
Externí odkaz:
https://doaj.org/article/d17fac3e3c4a4413a34c33aa3fb78490
Autor:
Dominika Oziębło, Marcin L. Leja, Aldona Jeznach, Magdalena Orzechowska, Tomasz Skirecki, Ewa Więsik-Szewczyk, Mariusz Furmanek, Natalia Bałdyga, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The NLRP3 gene mutations are the cause of autosomal dominant autoinflammatory disorders (NLRP3-AID). Recently, hearing loss (HL) has been found to be the sole or major manifestation of NLRP3-AID. Here, we tested 110 autosomal dominant HL families wit
Externí odkaz:
https://doaj.org/article/060c1f0a74764af0865408e9be4f4718
Autor:
Matthew D Snape, Melanie Gündert, Anette-Gabriele Ziegler, Peter Achenbach, Reinhard Berner, Kristina Casteels, Thomas Danne, Joerg Hasford, Olga Kordonouri, Karin Lange, Helena Elding Larsson, Markus Lundgren, Agnieszka Szypowska, John A Todd, Ezio Bonifacio, Nicole Zubizarreta, Christiane Winkler, Åke Lernmark, Daniel Agardh, Cigdem Gezginci, Claudia Ramminger, Marlon Scholz, Katharina Warncke, Carin Andrén Aronsson, Rasmus Bennet, Lina Fransson, Zeliha Mestan, Caroline Nilsson, Anita Ramelius, Carina Törn, Sarah Hogg, Catherine Owen, Lidia Groele, Florian Haupt, Claudia Matzke, Robin Assfalg, Matthew Snape, Felix Reschke, Marcin L Pekalski, Andreas Weiss, Andrew Johnston, Manja Jolink, Loredana Marcovecchio, Mariusz Ołtarzewski, Stefanie Arnolds, Annika Kölln, Markus Pfirrmann, Corinna Barz, Karina Blasius, Nadine Friedl, Adriano Gomez-Bantel, Martin Heigermoser, Bianca Höfelschweiger, Nadine Klein, Ramona Lickert, Rebecca Niewöhner, Katharina Schütte-Borkovec, Mira Taulien, Lara Vogel, Franziska Voß, José Maria Zapardiel Gonzalo, Philipp Sifft, Heidi Kapfelsberger, Merve Vurucu, Katharina Sarcletti, Stefanie Jacobson, Yulia Grinin, John A. Todd, Anette-G. Ziegler, Marcin L. Pekalski, Anette G. Ziegler, Annre Rochtus, An Jacobs, Hilde Morobé, Jasmin Paulus, Brontë Vrancken, Natalie Van den Driessche, Renka Van Heyste, Janne Houben, Veerle Vanhuyse, Sevina Dietz, Gita Gemulla, Manja Gottschalk-Schwarz, Sophie Heinke, Angela Hommel, Susann Kowal, Fabian Lander, Robert Morgenstern, Marc Weigelt, Sari Arabi, Raphael Hoffmann, Ruth Blechschmidt, Franziska Ehrlich, Anja Loff, Laura Galuschka, Ute Holtkamp, Nils Janzen, Sarah Landsberg, Erika Marquardt, Frank Roloff, Kerstin Semler, Thekla von dem Berge, Melanie Bunk, Simone Färber-Meisterjahn, Willi Grätz, Ines Greif, Melanie Herbst, Anna Hofelich, Benjamin Marcus, Annette Munzinger, Jasmin Ohli, Franziska Reinmüller, Tiziana Welzhofer, Sylwia Dybkowska, Katarzyna Dżygało, Dorota Owczarek, Katarzyna Popko, Agnieszka Skrobot, Anna Taczanowska, Beata Zduńczyk, Charlotte Brundin, Ida Jönsson, Sara Maroufkhani, Evelyn Tekum Amboh, Katarzyna Gajewska-Knapik, Elena Romero, Suzannah Twiss, Helen Gallon, Laura Gebbie, Fiona Jenkinson, Steven Pratt, Steve Robson, Claire Simmister, Evelyn Thomson, Eileen Walton
Publikováno v:
BMJ Open, Vol 11, Iss 11 (2021)
Introduction The Global Platform for the Prevention of Autoimmune Diabetes-SINT1A Study is designed as a randomised, placebo-controlled, double-blind, multicentre, multinational, primary prevention study aiming to assess whether daily administration
Externí odkaz:
https://doaj.org/article/32b6df3b92764c4e9ef877d2ae7501a4
Publikováno v:
Archives of Medical Science, Vol 20, Iss 3, Pp 962-966 (2020)
Introduction Otosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to
Externí odkaz:
https://doaj.org/article/648a1f6f595d47b2864d71cfec28f691
Autor:
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal do
Externí odkaz:
https://doaj.org/article/17da04a1ee254f68b28f3cc9c56e9868
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 11, p 6029 (2022)
Hearing is an important human sense for communicating and connecting with others. Partial deafness (PD) is a common hearing problem, in which there is a down-sloping audiogram. In this study, we apply a practical system for classifying PD patients, u
Externí odkaz:
https://doaj.org/article/80444626305644a2b120b40bc5210560
Autor:
Ricardo C. Ferreira, Daniel B. Rainbow, Arcadio Rubio García, Marcin L. Pekalski, Linsey Porter, João J. Oliveira, Frank Waldron-Lynch, Linda S. Wicker, John A. Todd
Publikováno v:
Data in Brief, Vol 12, Iss C, Pp 676-691 (2017)
We provide in this paper a detailed characterization of the human peripheral CD4+ CD127lowCD25+ regulatory T cell (Treg) compartment, with a particular emphasis in defining the population expressing higher levels of the IL-6 receptor (IL-6R). We prov
Externí odkaz:
https://doaj.org/article/118550356a274a4582df91b80dc090ad
Autor:
Ricardo C. Ferreira, Xaquin Castro Dopico, João J. Oliveira, Daniel B. Rainbow, Jennie H. Yang, Dominik Trzupek, Sarah A. Todd, Mhairi McNeill, Maristella Steri, Valeria Orrù, Edoardo Fiorillo, Daniel J. M. Crouch, Marcin L. Pekalski, Francesco Cucca, Tim I. Tree, Tim J. Vyse, Linda S. Wicker, John A. Todd
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
In systemic lupus erythematosus (SLE), perturbed immunoregulation underpins a pathogenic imbalance between regulatory and effector CD4+ T-cell activity. However, to date, the characterization of the CD4+ regulatory T cell (Treg) compartment in SLE ha
Externí odkaz:
https://doaj.org/article/491641df1e794e1fa267f30eab0edc3f