Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Natella V"'
Autor:
Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 1, Pp 96-105 (2023)
This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous
Externí odkaz:
https://doaj.org/article/660c8e7eaeb3410fbffb8e767fd02d7c
Autor:
George A. Karkashadze, Leyla S. Namazova-Baranova, Leonid M. Yatsik, Olga B. Gordeeva, Elena A. Vishneva, Kamilla E. Efendieva, Elena V. Kaytukova, Natella V. Sukhanova, Natalia S. Sergienko, Julia V. Nesterova, Svetlana E. Kondratova, Madina T. Fatakhova, Alexandr V. Pashkov, Irina V. Naumova, Irina V. Zelenkova, Viktor A. Gankovskiy, Svetlana G. Gubanova, Elizaveta V. Leonova, Alina R. Pankova, Anna A. Alexeeva, Daria A. Bushueva, Tinatin Yu. Gogberashvili, Dmitriy S. Kratko, Safarbegim H. Sadilloeva, Natalia E. Sergeeva, Marina A. Kurakina, Tatiana A. Konstantinidi, Inessa A. Povalyaeva, Margarita A. Soloshenko, Mariya I. Slipka, Viktor V. Altunin, Anastasiya I. Rykunova, Tatiana A. Salimgareeva, Pavel A. Prudnikov, Nadezhda A. Ulkina, Alexey I. Firumyantc, Nikita S. Shilko, Julia E. Kazanceva
Publikováno v:
Педиатрическая фармакология, Vol 19, Iss 6, Pp 459-478 (2023)
Background. The role of recently discovered neurospecific peptides in the pathogenesis of acute and progressive neurologic disorders, their neuroprotective features, and possibilities to use them as markers for the course and prognosis of certain dis
Externí odkaz:
https://doaj.org/article/09c3cba308ce41a1a8da8d7bc4c06f6b
Autor:
Andrey V. Marakhonov, Tatyana A. Vasilyeva, Marina E. Minzhenkova, Natella V. Sukhanova, Peter A. Sparber, Natalya A. Andreeva, Margarita V. Teleshova, Fatima K.-M. Baybagisova, Nadezhda V. Shilova, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16923 (2023)
Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis w
Externí odkaz:
https://doaj.org/article/53fea5017c8141a7af226a8ea3d18364
Autor:
Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15527 (2023)
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved com
Externí odkaz:
https://doaj.org/article/676059a5a3d14d04b706f23b2f47fedd
Autor:
George A. Karkashadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia Е. Sergeeva, Tinatin Yu. Gogberashvili, Nadezhda A. Ulkina, Elena V. Kaytukova, Dmitriy S. Kratko, Svetlana E. Kondratova, Safarbegim Kh. Sadilloeva, Marina A. Kurakina, Anastasiya I. Rykunova, Leonid M. Yatsick, Inessa A. Povalyeva, Tatiana A. Konstantinidi, Daria A. Bushueva, Pavel A. Prudnikov, Natalia S. Sergienko, Yuliya V. Nesterova, Elizaveta V. Leonova, Aishat M. Gazalieva, Irina V. Zelenkova, Natella V. Sukhanova
Publikováno v:
Вопросы современной педиатрии, Vol 20, Iss 6, Pp 506-520 (2022)
The other contributors confirmed the absence of a reportable conflict of interests The influence of dynamically changing habits associated with the use of digital devices (DD) on the child’s brain is one of the most topical issues of the last decad
Externí odkaz:
https://doaj.org/article/c2221f2af49f47fca016a489622c66c8
Autor:
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 20, Iss 6s, Pp 595-601 (2021)
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name. This disease occurs with hemorrh
Externí odkaz:
https://doaj.org/article/52448d51711446f1a7215c9b755976a2
Autor:
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Publikováno v:
Педиатрическая фармакология, Vol 17, Iss 6, Pp 529-535 (2021)
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell dea
Externí odkaz:
https://doaj.org/article/bee9276985e8433e8066e87c0312d419
Autor:
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko
Publikováno v:
BMC Medical Genomics, Vol 13, Iss S8, Pp 1-5 (2020)
Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosi
Externí odkaz:
https://doaj.org/article/5a4f4c93fb51459caf26f894f64b28c5
Autor:
Vasilyeva, Tatyana A.1 (AUTHOR) vasilyeva_debrie@mail.ru, Sukhanova, Natella V.1 (AUTHOR), Marakhonov, Andrey V.1 (AUTHOR) marakhonov@generesearch.ru, Kuzina, Natalia Yu.1 (AUTHOR), Shilova, Nadezhda V.1 (AUTHOR), Kadyshev, Vitaly V.1 (AUTHOR), Kutsev, Sergey I.1 (AUTHOR), Zinchenko, Rena A.1 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15527. 11p.
Autor:
Watanabe, Momoko, Buth, Jessie E., Haney, Jillian R., Vishlaghi, Neda, Turcios, Felix, Elahi, Lubayna S., Gu, Wen, Pearson, Caroline A., Kurdian, Arinnae, Baliaouri, Natella V., Collier, Amanda J., Miranda, Osvaldo A., Dunn, Natassia, Chen, Di, Sabri, Shan, Torre-Ubieta, Luis de la, Clark, Amander T., Plath, Kathrin, Christofk, Heather R., Kornblum, Harley I., Gandal, Michael J., Novitch, Bennett G.
Publikováno v:
In Stem Cell Reports 11 October 2022 17(10):2220-2238