Zobrazeno 1 - 10
of 320
pro vyhledávání: '"Roppelt, A."'
Publikováno v:
In Technology in Society March 2024 76
Autor:
Anna A. Roppelt, Marina S. Lebedkina, Anton A. Chernov, Tatiana S. Kruglova, Olga A. Mukhina, Yulia D. Yukhnovskaya, Farida A. Samedova, Ulyana A. Mаrkina, Gerelma V. Andrenova, Alexander V. Karaulov, Mariana A. Lysenko, Daria S. Fomina
Publikováno v:
Терапевтический архив, Vol 95, Iss 1, Pp 78-84 (2023)
Background. Primary immunodeficiencies (PIDs), now known as inborn errors of immunity, are a group of inherited diseases caused by defects in the genes that control the immune response. Patients with PIDs have risks of developing a severe course and/
Externí odkaz:
https://doaj.org/article/2d43eed5d4bf4eb69941f07a641d44c2
Autor:
Giorgia Bucciol, Leen Moens, Masato Ogishi, Darawan Rinchai, Daniela Matuozzo, Mana Momenilandi, Nacim Kerrouche, Catherine M. Cale, Elsa R. Treffeisen, Mohammad Al Salamah, Bandar K. Al-Saud, Alain Lachaux, Remi Duclaux-Loras, Marie Meignien, Aziz Bousfiha, Ibtihal Benhsaien, Anna Shcherbina, Anna Roppelt, COVID Human Genetic Effort, Florian Gothe, Nadhira Houhou-Fidouh, Scott J. Hackett, Lisa M. Bartnikas, Michelle C. Maciag, Mohammed F. Alosaimi, Janet Chou, Reem W. Mohammed, Bishara J. Freij, Emmanuelle Jouanguy, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Vivien Béziat, Qian Zhang, Christopher J.A. Duncan, Sophie Hambleton, Jean-Laurent Casanova, Isabelle Meyts
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ ce
Externí odkaz:
https://doaj.org/article/93721eaae57f4e8c9405aeeff959098f
Autor:
Laberko, Alexandra, Yukhacheva, Daria, Kan, Nelly, Roppelt, Anna, Mukhina, Anna, Rodina, Yulia, Pershin, Dmitry, Cheng, Aristine, Lionakis, Michail S., Solopova, Galina, Kadnikova, Olga, Mushkin, Aleksandr, Novichkova, Galina, Shcherbina, Anna
Publikováno v:
In The Journal of Allergy and Clinical Immunology: In Practice July 2022 10(7):1797-1804
Akademický článek
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Autor:
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina
Publikováno v:
Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to
Externí odkaz:
https://doaj.org/article/f66c1aefc43645eeae9a70d9f988db5e
Autor:
Yulia Rodina, E. Deripapa, O. Shvets, A. Mukhina, A. Roppelt, D. Yuhacheva, A. Laberko, V. Burlakov, D. Abramov, G. Tereshchenko, G. Novichkova, Anna Shcherbina
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
BackgroundInterstitial lymphocytic lung disease (ILLD), a recently recognized complication of primary immunodeficiencies (PID), is caused by immune dysregulation, abnormal bronchus-associated lymphoid tissue (BALT) hyperplasia, with subsequent progre
Externí odkaz:
https://doaj.org/article/e37ee52c435946f0a0c4b4132b25ce1b
Publikováno v:
In Telematics and Informatics August 2019 41:55-69
Autor:
Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among m
Externí odkaz:
https://doaj.org/article/2f8dbce0c44e4a158652d35157cd6723
Autor:
Joseph Topal, Neelam Panchal, Amairelys Barroeta, Anna Roppelt, Annelotte Mudde, H. Bobby Gaspar, Adrian J. Thrasher, Benjamin C. Houghton, Claire Booth
Publikováno v:
Journal of Clinical Immunology. 43:440-451
Background X-linked inhibitor of apoptosis protein (XIAP) deficiency is a severe immunodeficiency with clinical features including hemophagocytic lymphohistiocytosis (HLH) and inflammatory bowel disease (IBD) due to defective NOD2 responses. Manageme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac2153d71f859be873b903841942663
https://doi.org/10.1007/s10875-022-01389-0
https://doi.org/10.1007/s10875-022-01389-0