Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Katarina, Zmajkovicova"'
Autor:
Lilian Roland, Chi Huu Nguyen, Katarina Zmajkovicova, Mélanie Khamyath, Maria Kalogeraki, Bérénice Schell, Vanessa Gourhand, Vincent Rondeau, Zeina Abou Nader, Halenya Monticelli, Barbara Maierhofer, Robert Johnson, Arthur Taveras, Marion Espéli, Karl Balabanian
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundWHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is an ultra-rare, combined primary immunodeficiency and chronic neutropenic disorder characterized by a range of clinical presentations, including peripheral neutro
Externí odkaz:
https://doaj.org/article/0dce767235e54235a04e512a4f02e6e0
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of
Externí odkaz:
https://doaj.org/article/33a4399d5701453fb24be25e56262870
Autor:
Katarina Zmajkovicova, Yasmina Bauer, Katalin Menyhart, Marie Schnoebelen, Diego Freti, Maxime Boucher, Bérengère Renault, Rolf Studer, Magdalena Birker-Robaczewska, Axel Klenk, Oliver Nayler, John Gatfield
Publikováno v:
PLoS ONE, Vol 15, Iss 2, p e0228195 (2020)
Tissue fibrosis is a pathological condition characterized by uncontrolled fibroblast activation that ultimately leads to organ failure. The TGFβ1 pathway, one of the major players in establishment of the disease phenotype, is dependent on the transc
Externí odkaz:
https://doaj.org/article/282eb950f8d8439b83951dce674b541e
Autor:
Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter
Publikováno v:
Journal of Clinical Immunology. 42:1748-1765
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
https://doi.org/10.1007/s10875-022-01312-7
https://doi.org/10.1007/s10875-022-01312-7
Autor:
Katarina, Zmajkovicova, Sumit, Pawar, Sabine, Maier-Munsa, Barbara, Maierhofer, Ivana, Wiest, Renato, Skerlj, Arthur G, Taveras, Adriana, Badarau
Publikováno v:
Genes and immunity. 23(6)
Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is a rare primary immunodeficiency predominantly caused by heterozygous gain-of-function mutations in CXCR4 C-terminus. We assessed genotype-phenotype correlations for known path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc4d613faaa8dc45da0660bdbc6df0c6
https://pubmed.ncbi.nlm.nih.gov/36089616
https://pubmed.ncbi.nlm.nih.gov/36089616
The Antifibrotic Activity of Prostacyclin Receptor Agonism Is Mediated through Inhibition of YAP/TAZ
Autor:
John Gatfield, Marie Schnoebelen, Katalin Menyhart, Katarina Zmajkovicova, Bérengère Renault, Matthias Bolinger, Rolf Studer, Yasmina Bauer, Oliver Nayler
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 60:578-591
Idiopathic pulmonary fibrosis is a life-threatening progressive disease characterized by loss of alveolar epithelial cells, inflammation, and aberrant fibroblast activation. The two currently approved therapies do not halt or reverse tissue remodelin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46ef65a26b3065dc3249ab5a6c3a01b3
https://doi.org/10.1165/rcmb.2018-0142oc
https://doi.org/10.1165/rcmb.2018-0142oc
Autor:
Chi Nguyen, Halenya Monticelli, Tom Kruitwagen, Matteo Tardelli, Barbara Maierhofer, Thalia Martins Rebelo, Sabine Maier-Munsa, Katarina Zmajkovicova, Lukas Dillinger, Adriana Badarau, Arthur G. Taveras
Publikováno v:
Cancer Research. 82:6093-6093
Waldenström’s macroglobulinemia (WM) is a rare B-cell malignancy characterized by monoclonal immunoglobulin M (IgM) hypersecretion and invasion of B cells in the bone marrow (BM) and lymphoid tissues. >90% of WM cases show mutations in MYD88 and 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17243bbad6640577af3f0ec7c55604a7
https://doi.org/10.1158/1538-7445.am2022-6093
https://doi.org/10.1158/1538-7445.am2022-6093
Autor:
Jolan Walter, Sumit Pawar, Chi Nguyen, Katarina Zmajkovicova, Svetlana Sharapova, Ivana Wiest, Halenya Monticelli, Sabine Maier-Munsa, Christoph Geier, Neal Sondheimer, Boglarka Ujhazi, Sumai Gordon, Maryssa Ellison, Arthur Taveras, Adriana Badarau, Teresa Tarrant
Publikováno v:
Journal of Allergy and Clinical Immunology. 149:AB20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::669f621ed4725c722cbe20fea70cfca8
https://doi.org/10.1016/j.jaci.2021.12.102
https://doi.org/10.1016/j.jaci.2021.12.102
Autor:
Sumit Pawar, Christoph B. Geier, Sabine Maier-Munsa, Maryssa Ellison, Svetlana O. Sharapova, Chi Nguyen, Boglarka Ujhazi, Ivana Wiest, Neal Sondheimer, Arthur G. Taveras, Adriana Badarau, Jolan E. Walter, Halenya Monticelli, Katarina Zmajkovicova, Teresa K. Tarrant, Sumai Gordon
Publikováno v:
Blood. 138:4309-4309
Background: WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) syndrome is a rare primary immunodeficiency with a heterogeneous presentation of symptoms defining its acronym as well as panleukopenia. The majority of cases are inherited in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::292f03c0f0462ff7161a6ca280220a0d
https://doi.org/10.1182/blood-2021-153062
https://doi.org/10.1182/blood-2021-153062
Autor:
Sabine Maier-Munsa, Arthur G. Taveras, Adriana Badarau, Katarina Zmajkovicova, Barbara Maierhofer
Publikováno v:
Blood. 138:2063-2063
Background: WHIM (Wart, Hypogammaglobulinemia, Infections, Myelokathexis) syndrome is a rare, autosomal-dominant primary immunodeficiency with neutropenia and lymphopenia. The clinical presentation may include recurrent infections, and increased susc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f13c21062ec8ba9ef223b7ea402567b9
https://doi.org/10.1182/blood-2021-151311
https://doi.org/10.1182/blood-2021-151311