Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Oxana, Ryzhkova"'
Autor:
Elizaveta Bragina, Svetlana Kurchashova, Marina Suhomlinova, Tatiana Gasanova, Svetlana Ermolaeva, Tatyana Sorokina, Eva Kirs, Evgeniy Arifulin, Olga Solovova, Oxana Ryzhkova, Sabina Khayat, Marina Andreeva, Vyacheslav Chernykh
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia. Semen samples from 1
Externí odkaz:
https://doaj.org/article/17826bc2612441ff8884e3525a69998e
Autor:
Olga Shatokhina, Valeriia Kovalskaia, Peter Sparber, Inna Sharkova, Irina Mishina, Vera Kuznetsova, Oxana Ryzhkova
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15572 (2023)
In this study, we report a novel splice variant in the TRA2B gene identified in a patient presenting with seizures and neurodevelopmental delay. This paper represents the second investigation of pathogenic variants in the TRA2B gene in humans, reaffi
Externí odkaz:
https://doaj.org/article/365a0c4acaba41d8ad433232d10e196b
Autor:
Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev
Publikováno v:
Genes, Vol 14, Iss 8, p 1553 (2023)
Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer–Saldino syndrome. Only four patients have prev
Externí odkaz:
https://doaj.org/article/9b5e53ade27f473da355238859830a8c
Autor:
Polina Chausova, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, Aleksander Poliakov
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8409 (2023)
X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a
Externí odkaz:
https://doaj.org/article/6f300a9416b04a09973064554f4bc8a2
Akademický článek
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Autor:
Olga Shatokhina, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana Ryzhkova, Elena Bliznetz
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15748 (2022)
Hearing loss is one of the most genetically heterogeneous disorders known. Over 120 genes are reportedly associated with non-syndromic hearing loss (NSHL). To date, in Russia, there have been relatively few studies that apply massive parallel sequenc
Externí odkaz:
https://doaj.org/article/578773df591d47369797bab55a7b153d
Autor:
Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana Ryzhkova, Olga Shatokhina, Nailya Galeeva, Elena Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavartkiladze
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 11, p 1843 (2022)
Congenital and early onset bilateral sensorineural hearing loss (SNHL) is mainly caused by mutations in numerous genes. The introduction of universal newborn hearing screening (UNHS) has increased the number of infants with mild, moderate, and modera
Externí odkaz:
https://doaj.org/article/0b544d64d6f747e9808b0e831004dc0d
Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12506 (2022)
A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger seq
Externí odkaz:
https://doaj.org/article/4160c5bdd5784462b65e57543f648a65
Autor:
Olga Levchenko, Elena Dadali, Ludmila Bessonova, Nina Demina, Galina Rudenskaya, Galina Matyushchenko, Tatiana Markova, Inga Anisimova, Natalia Semenova, Olga Shchagina, Oxana Ryzhkova, Rena Zinchenko, Varvara Galkina, Victoria Voinova, Sabina Nagieva, Alexander Lavrov
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7764 (2022)
Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients
Externí odkaz:
https://doaj.org/article/371e4fdd390845f886b7a264cd7d2110
Autor:
Olga Shatokhina, Natalia Semenova, Nina Demina, Elena Dadali, Alexander Polyakov, Oxana Ryzhkova
Publikováno v:
Genes, Vol 12, Iss 10, p 1618 (2021)
Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-γ-GT (GGT) cholestasis. Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proba
Externí odkaz:
https://doaj.org/article/425ab3bb81994de0a49e3cf6f5ff7896