Zobrazeno 1 - 10
of 423
pro vyhledávání: '"Gundorova P"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionBardet–Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance. For the first time,
Externí odkaz:
https://doaj.org/article/612f4f9e11b94260bf687884fdd28109
Akademický článek
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Publikováno v:
Frontiers in Genetics; 2024, p1-9, 9p
Akademický článek
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Autor:
O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 4, Pp 12-26 (2020)
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor
Externí odkaz:
https://doaj.org/article/1599192bcac747e5863e7fd99f370100
Autor:
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249608 (2021)
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenyl
Externí odkaz:
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
Autor:
Polina Gundorova, Anna A Stepanova, Irina A Kuznetsova, Sergey I Kutsev, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0211048 (2019)
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in R
Externí odkaz:
https://doaj.org/article/eeb463ec45e64690b4f4972f70970559
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 1, Pp 74-81 (2016)
Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane. MC is represented by t
Externí odkaz:
https://doaj.org/article/8236a5802dae4ea98232b1e0014f2244
Autor:
Polina Gundorova, Rena A Zinchenko, Irina A Kuznetsova, Elena A Bliznetz, Anna A Stepanova, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201489 (2018)
Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from cou
Externí odkaz:
https://doaj.org/article/570b62a7c4f0497da42b047ea3d83800
Publikováno v:
Современная онкология, Vol 17, Iss 3, Pp 96-99 (2015)
This article discusses the basic mechanisms of latency some of the herpes viruses and the role of persistence of these viruses in oncogenesis. A statistically significant increase of the level of viral antibodies in patients with recurrent, locally a
Externí odkaz:
https://doaj.org/article/e726acf0913c40a195838b65a9fc61dc