Zobrazeno 1 - 10
of 102
pro vyhledávání: '"EKATERINA A. ZAKHAROVA"'
Autor:
Anton K. Emelyanov, Tatiana S. Usenko, Alena E. Kopytova, Irina V. Miliukhina, Alla A. Timofeeva, Anastasia I. Bezrukova, Darya G. Kulabukhova, Galina V. Baydakova, Mikhail A. Nikolaev, Anna O. Lavrinova, Anastasia V. Kudrevatykh, Alexander S. Zhuravlev, Ekaterina Yu. Zakharova, Sofya N. Pchelina
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 18, Iss 3, Pp 50-57 (2024)
Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in
Externí odkaz:
https://doaj.org/article/32b215ee5ae443709ab7eb04cf520f45
Autor:
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 3, Pp 188-196 (2024)
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnos
Externí odkaz:
https://doaj.org/article/6f938547a3b7411995ac4e87c59b3a44
Autor:
Ekaterina Vladimirovna Zakharova, Ilya Sergeevich Demyanchuk, Denis Sergeevich Sobolev, Yaroslav Yurievich Golivanov, Ekaterina Nikolaevna Baranova, Marat Rushanovich Khaliluev
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-11 (2024)
Abstract Programmed cell death (PCD) is relevant to many aspects in the growth and development of a plant organism. In their reproduction, many flowering plant species possess self-incompatibility (SI), that is an intraspecific reproductive barrier,
Externí odkaz:
https://doaj.org/article/c0d79663fdbb4f63b44c85a7ce2734bd
Publikováno v:
Вопросы ономастики, Vol 20, Iss 3, Pp 49-62 (2023)
The article attempts to identify the etymology of the place name Knyazhaya guba (name of a settlement in the Murmansk Region of Russia). The material for the study included the available written sources from different time periods, works of the Murma
Externí odkaz:
https://doaj.org/article/c7707584fe0b444c881109a2d6b4c069
Autor:
Nato D. Vashakmadze, Nataliya V. Zhurkova, Ekaterina Yu. Zakharova, Ludmila K. Mikhaylova, Marina A. Babaykina
Publikováno v:
Вопросы современной педиатрии, Vol 22, Iss 4, Pp 324-330 (2023)
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfa
Externí odkaz:
https://doaj.org/article/8937171f657e4f6c9ef6a9ef77a0af3a
Autor:
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 318-336 (2023)
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article pres
Externí odkaz:
https://doaj.org/article/dd29ce8f7c954e10bb999e43b7ae4d52
Autor:
Natalia V. Buchinskaya, Nato D. Vashakmadze, Natalia V. Zhurkova, Lubov S. Sorokina, Liudmila К. Mikhaylova, Leyla S. Namazova-Baranova, Ekaterina Yu. Zakharova, Valentina I. Larionova, Mikhail M. Kostik
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 6S, Pp 548-557 (2023)
Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore
Externí odkaz:
https://doaj.org/article/269cb7923dad48b29271235e4536c872
Autor:
Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, Maria S. Karaseva, Kristina V. Pashkova, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 6S, Pp 577-582 (2023)
Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this en
Externí odkaz:
https://doaj.org/article/9d94e098e8e948089f7480e9324172fd
Autor:
Natalia V. Zhurkova, Nato D. Vashakmadze, Ludmila K. Mikhaylova, Marina A. Babaykina, Nina V. Fedorova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 6S, Pp 570-576 (2023)
Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development o
Externí odkaz:
https://doaj.org/article/a2f1fa6b03964f108f9c67601e88f1dc
Autor:
Ekaterina V. Zakharova
Publikováno v:
Финно-угорский мир, Vol 14, Iss 4, Pp 463-473 (2022)
Introduction. The article considers the description of the geographic information system for toponyms of Karelia, which is developed by the Linguistics sector of the ILLH KarRC RAS as a deliverable of a grant of the Russian Science Foundation. It rev
Externí odkaz:
https://doaj.org/article/ed89cfecb4a44536b2b840859c5ce113