Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Dmitry Pershin"'
Autor:
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent associati
Externí odkaz:
https://doaj.org/article/5dfc78da418c415dbb00aa1672da4957
Autor:
Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100251- (2024)
A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflamm
Externí odkaz:
https://doaj.org/article/210227899b844bb195a274154294107a
Autor:
Anna Khoreva, MD, Kirill R. Butov, MD, Elena I. Nikolaeva, MD, Alexey Martyanov, PhD, Elena Kulakovskaya, MD, Dmitry Pershin, MD, Maxim Alexenko, MD, Maria Kurnikova, MD, Ruslan Abasov, MD, Elena Raykina, PhD, Dmitry Abramov, MD, Kristina Arnaudova, PhD, Yulia Rodina, PhD, Natalia Trubina, MD, Yulia Skvortsova, PhD, Dmitry Balashov, PhD, Anastasia Sveshnikova, PhD, Alexey Maschan, PhD, Galina Novichkova, PhD, Mikhail Panteleev, PhD, Anna Shcherbina, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100172- (2024)
Background: To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene (CORO1A) and its protein with clinical features of combined immunodeficiency characterized by T-cell lymphopenia ranging fr
Externí odkaz:
https://doaj.org/article/cdcf224730d14bf088b654de844c66a1
Autor:
Varvara Maiorova, Murad D. Mollaev, Polina Vikhreva, Elena Kulakovskaya, Dmitry Pershin, Dmitriy M. Chudakov, Alexey Kibardin, Michael A. Maschan, Sergey Larin
Publikováno v:
Vaccines, Vol 9, Iss 11, p 1238 (2021)
Relapsed/refractory acute myeloid leukemia (AML) cannot be cured with chemotherapy alone, as the blasts survive the treatment. Chimeric antigen receptor (CAR) approaches for AML are being actively developed. CARs promote immune reactions through reco
Externí odkaz:
https://doaj.org/article/0af6a223b7c04eecb2755b3406e7a266
Autor:
Natalia Malygina, Elena Mitrofanova, Natalia Kuryatnikova, Roman Biryukov, Dmitry Zolotov, Dmitry Pershin, Dmitry Chernykh
Publikováno v:
Water, Vol 13, Iss 16, p 2287 (2021)
Microplastics (MPs) contaminations of freshwater and marine environments has become a global issue. Lakes in southern Siberia provide a wide range of ecosystem services and are essential elements in the annual and interannual runoff distribution of t
Externí odkaz:
https://doaj.org/article/7748e5802fc545d38ba7081a4017dd5b
Autor:
Victorya Zakharova, Elena Raykina, Irina Mersiyanova, Ekaterina Deordieva, Dmitry Pershin, Victorya Vedmedskia, Yulia Rodina, Natalia Kuzmenko, Michael Maschan, Anna Shcherbina
Publikováno v:
Human Mutation. 43:1852-1855
RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features of developmental delay, facial dysmorphisms, and defects in various orga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6ff3dc63ad21035367e56075f8bbde
https://doi.org/10.1002/humu.24463
https://doi.org/10.1002/humu.24463
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 101:133-139
The article presents a clinical case of a patient with mucopolysaccharidosis type I (MPS I), whose infectious status was aggravated by the course of disseminated BCG infection. Currently, there is no clear understanding of the role of the immune syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b19a906275353fb19a68e3e0c956c4d2
https://doi.org/10.24110/0031-403x-2022-101-2-133-139
https://doi.org/10.24110/0031-403x-2022-101-2-133-139
Autor:
O.A. Shvets, A.Yu. Shcherbina, E.A. Deordieva, N. S. Smetanina, A.V. Pshonkin, Dmitry Pershin, A. M. Kieva, Maria Kurnikova
Publikováno v:
Pediatric Hematology/Oncology and Immunopathology. 20:170-179
Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by defective FAS-mediated apoptosis and usually accompanied by hypergammaglobulinemia. Yet some exceptions take place in the cohort of patients that complicated timely diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42db3e7f42ad2954415a3cc0e2009ff7
https://doi.org/10.24287/1726-1708-2021-20-1-170-179
https://doi.org/10.24287/1726-1708-2021-20-1-170-179
Autor:
Alexandra Laberko, E.V. Raykina, G.N. Tereshenko, V.I. Burlakov, A.A. Roppelt, E.V. Deripapa, D.V. Bogdanova, Yu.A. Rodina, I.N. Abramova, Immunology named after Dmitry Rogachev, Moscow, Russia, A.Yu. Shcherbina, D.V. Yukhacheva, Anna Mukhina, D.S. Abramov, A.L. Khoreva, O.A. Shvets, Dmitry Pershin, M.Yu. Alexenko, A. M. Kieva, V.A. Vedmedskia, A.V. Pshonkin, G.G. Solopova
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 100:22-30
CTLA4 deficiency is a primary immunodeficiency state (PIDS) caused by monoallelic mutations in the gene of the same name, and belongs to the group of immunodeficiencies with immune dysregulation. This work analyzes the results of 11 patients with CTL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc80b3e0aa9ea4ba2ca48de425eb9bbd
https://doi.org/10.24110/0031-403x-2021-100-2-22-30
https://doi.org/10.24110/0031-403x-2021-100-2-22-30
Autor:
I.V. Mersiyanova, V. A. Vedmedskaya, M.A. Maschan, E.A. Kulakovskaya, M.S. Fadeeva, A.L. Khoreva, A.Yu. Shcherbina, E.A. Malakhova, I.S. Vladimirov, Dmitry Pershin, E.V. Raikina, Yu.A. Rodina, A. M. Kieva, O.B. Lodoeva, Immunology named after Dmitry Rogachev, Moscow, Russia
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 100:31-40
Compensatory or revertant somatic mutations (RSM) is a well-known phenomenon in patients with PIs. RSM can lead to the restoration of functional protein expression in some cell populations and thus influence the severity of clinical manifestations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53d027a4fffca189cf382dab44f7fda2
https://doi.org/10.24110/0031-403x-2021-100-2-31-40
https://doi.org/10.24110/0031-403x-2021-100-2-31-40