Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Natella V. Sukhanova"'
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:
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. 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:
Ludmila A. Katargina, Rena A. Zinchenko, Andrey V. Marakhonov, Tatjana A. Vasilieva, Natella V. Sukhanova
Publikováno v:
Russian Pediatric Ophthalmology. 15:19-24
WAGRO syndrome is a rare genetic syndrome that includes Wilms tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85262caabc6e8a6d68777b11a8feb79f
https://doi.org/10.17816/rpo2020-15-2-19-24
https://doi.org/10.17816/rpo2020-15-2-19-24
Autor:
Natella V. Sukhanova, Andrey V. Marakhonov, V. V. Kadyshev, Barbara Käsmann-Kellner, Rena A. Zinchenko, A. A. Voskresenskaya, Lyudmila A. Katargina, Tatyana A. Vasilyeva, Sergey I. Kutsev
Publikováno v:
Journal of Medical Genetics. 58:270-274
BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the PAX6 gene in a heterozygous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcf8997a14f52ec34cec070c65611c39
https://doi.org/10.1136/jmedgenet-2019-106172
https://doi.org/10.1136/jmedgenet-2019-106172
Autor:
Tatyana A. Vasilyeva, Rena A. Zinchenko, Andrey V. Marakhonov, A. A. Voskresenskaya, Alexandra Filatova, Mikhail Skoblov, Natella V. Sukhanova
Publikováno v:
Human mutationREFERENCES. 42(8)
Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a molecular genetic study of a large cohort of Russian patients with AN and revealed four noncod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f323cea003bb27d6dcf803689bc3bfcc
https://pubmed.ncbi.nlm.nih.gov/34174135
https://pubmed.ncbi.nlm.nih.gov/34174135
Autor:
Zhanna G. Markova, Marina E. Minzhenkova, Natella V. Sukhanova, Nadezhda V. Shilova, Nika V. Petrova, Tatyana A. Vasilyeva, Denis V Pyankov, Rena A. Zinchenko, V. V. Kadyshev, Ilya V. Kanivets, Irina A. Krynskaya, Sergey Korostelev, Andrey V. Marakhonov, Sergey I. Kutsev, Philipp Aleksandrovich Koshkin
Publikováno v:
BMC Medical Genomics, Vol 13, Iss S8, Pp 1-5 (2020)
BMC Medical Genomics
BMC Medical Genomics
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 diagnosis of WAGR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e207212ba6cf5f8b6e5af4ac19022a4
https://doi.org/10.1186/s12920-020-00790-1
https://doi.org/10.1186/s12920-020-00790-1
Autor:
Rena A. Zinchenko, Sergey I. Kutsev, A. A. Voskresenskaya, V. V. Kadyshev, Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov
Publikováno v:
Human molecular genetics. 28(19)
WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cec9c6cf387fca13becbdb9587ecf24
https://pubmed.ncbi.nlm.nih.gov/31304537
https://pubmed.ncbi.nlm.nih.gov/31304537