Search

Your search keyword '"Shatokhina, Olga"' showing total 21 results
Start Over Author "Shatokhina, Olga"
21 results on '"Shatokhina, Olga"'

2. The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy.

Author

Shatokhina, Olga, Bostanova, Fatima, Bulakh, Maria, Beresneva, Anastasia, and Ryzhkova, Oxana

Subjects
*GENETIC variation, *WHOLE genome sequencing, *GENETIC testing, *GENE expression, *SHORT stature, *STATURE, *AGENESIS of corpus callosum
Abstract

The RREB1 is a zinc finger transcription factor that plays a role in regulating gene expression and inactivating MAPK signalling components. To date, no pathogenic variant in the RREB1 gene has been associated with any disease, but several cases of 6p terminal deletions affecting the RREB1 gene have been reported. In this study, we report the first case of RREB1‐associated Noonan‐like RASopathy caused by a pathogenic variant within this gene. Genetic testing included whole‐genome sequencing (WGS) of the proband and Sanger sequencing of the proband, his parents, and his sibling. The proband had a de novo c.2677del, p.(Ala893Argfs*20) variant, likely resulting in RREB1 haploinsufficiency. Comparative analysis of patients with microdeletions, including in the RREB1 gene, confirmed shared clinical traits while highlighting unique features, such as blue sclerae and absence of cardiac anomalies. This study reinforces previous data on RREB1 haploinsufficiency as the driver of a new Noonan‐like RASopathy variant, which includes intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms as key clinical indicators. These findings shed light on this RREB1‐related syndrome and underscore the necessity for further investigation into the functional consequences of RREB1 mutations. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

4. Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

Author

Shatokhina, Olga, primary, Galeeva, Nailya, additional, Stepanova, Anna, additional, Markova, Tatiana, additional, Lalayants, Maria, additional, Alekseeva, Natalia, additional, Tavarkiladze, George, additional, Bessonova, Liudmila, additional, Petukhova, Marina, additional, Guseva, Daria, additional, Anisimova, Inga, additional, Polyakov, Alexander, additional, Ryzhkova, Oxana, additional, and Bliznetz, Elena, additional

Published
2022
Full Text
View/download PDF

6. Genetic and Clinical Spectrum of GNE Myopathy in Russia

Author

Murtazina, Aysylu, primary, Nikitin, Sergey, additional, Rudenskaya, Galina, additional, Sharkova, Inna, additional, Borovikov, Artem, additional, Sparber, Peter, additional, Shchagina, Olga, additional, Chukhrova, Alena, additional, Ryzhkova, Oksana, additional, Shatokhina, Olga, additional, Orlova, Anna, additional, Udalova, Vasilisa, additional, Kanivets, Ilya, additional, Korostelev, Sergey, additional, Polyakov, Alexander, additional, Dadali, Elena, additional, and Kutsev, Sergey, additional

Published
2022
Full Text
View/download PDF

11. Activity of thymidine kinase as a prognostic marker of malignant proliferation in adolescents with lymphadenopathy.

Author

Dmitrieva, Viktoria V., primary, Frantsiyants, Elena M., additional, Lysenko, Irina B., additional, Pak, Elena E., additional, Kozyuk, Olga V., additional, Nikolaeva, Nadezhda V., additional, Kapuza, Elena A., additional, Shatokhina, Olga N., additional, Shashkina, Larisa Yu., additional, Kuznetsov, Sergei A., additional, Mkrtchyan, Gulnara A., additional, Starzhetskaya, Maria V., additional, Bespalova, Aleksandra I., additional, Yurchenko, Darya Yu., additional, Popovyan, Olga P., additional, and Kutsevalova, Olga Yu., additional

Published
2019
Full Text
View/download PDF

12. Markers of melanoma progression in the blood serum structure.

Author

Shikhlyarova, Alla I., primary, Kit, Oleg I., additional, Shatokhina, Olga N., additional, Akhmedova, Amira A., additional, Przhedetskiy, Yury Valentinovich, additional, Pozdnyakova, Viktoria V., additional, Khokhlova, Olga V., additional, Przhedetskaya, Viktoria, additional, Lysenko, E. P., additional, Goncharova, Anna S., additional, Zhadobina, Anastasia I., additional, and Zhukova, Galina V., additional

Published
2019
Full Text
View/download PDF

15. Совершенствование управления процессом формирования и функционирования индустриальных парков в регионах России

Author

Самостроенко Георгий Максимович; ФГБОУ ВО «Орловский государственный университет им. И.С. Тургенева», Samostroenko Georgii Maksimovich; FSBEI of HE “Orel State University named after I.S. Turgenev”, Шатохина Ольга Валерьевна; ООО «Стройкомплект», Shatokhina Olga Valerevna; OOO "Stroikomplekt", Самостроенко Георгий Максимович; ФГБОУ ВО «Орловский государственный университет им. И.С. Тургенева», Samostroenko Georgii Maksimovich; FSBEI of HE “Orel State University named after I.S. Turgenev”, Шатохина Ольга Валерьевна; ООО «Стройкомплект», and Shatokhina Olga Valerevna; OOO "Stroikomplekt"

Abstract

Создание индустриальных парков – одна из перспективных тенденций развития реального сектора экономики регионов. Условием максимального использования возможностей индустриальных парков является организация эффективного управления. В данной монографии излагаются рекомендации, направленные на повышение эффективности управления процессом формирования и функционирования индустриальных парков в регионах России., The creation of industrial parks is one of the promising trends in the development of real economic sectors of the regional economy. The condition for maximizing the use of industrial parks is the organization of effective management. This monograph sets out recommendations related to improving management efficiency and creating industrial parks in the regions of Russia.

Published
2018

16. Some characteristics of invasive candidiasis pathogens.

Author

Kutsevalova, Olga Yu., primary, Kit, Oleg Ivanovich, additional, Panova, Natalia I., additional, Lysenko, Irina B., additional, Dmitrieva, Viktoria V., additional, Rozenko, Dmitry, additional, Gevorkyan, Yuri, additional, Legostaev, Vladislav, additional, Shatokhina, Olga N., additional, Pak, Elena E., additional, Nikolaeva, Nadezhda V., additional, Kozel, Yuliya Yu., additional, Kuznetsov, Sergei A., additional, Kozyuk, Olga V., additional, Kapuza, Elena A., additional, Mkrtchyan, Gulnara A., additional, Bespalova, Aleksandra I., additional, Starzhetskaya, Maria V., additional, Kovalenko, Vera A., additional, and Shashkina, Larisa Yu., additional

Published
2017
Full Text
View/download PDF

17. The meaning of determination of some immunophenotypical parameters of bone marrow in patients with multiple myeloma in the disease monitoring.

Author

Lysenko, Irina B., primary, Kit, Oleg Ivanovich, additional, Novikova, Inna Arnoldovna, additional, Nikolaeva, Nadezhda V., additional, Kapuza, Elena A., additional, Shatokhina, Olga N., additional, Pushkareva, Tatiana F., additional, Pugacheva, Margarita, additional, and Zuderman, Natalia, additional

Published
2016
Full Text
View/download PDF

18. Assessment of herpes virus occurrence frequency in lymphoma patients.

Author

Zykova, Tatyana A., primary, Lysenko, Irina B., additional, Bogomolova, Olga A., additional, Dmitrieva, Viktoriya V., additional, Nikolaeva, Nadezhda V., additional, Kapuza, Elena A., additional, Shatokhina, Olga N., additional, Pushkareva, Tatiana F., additional, Pak, Elena E., additional, Kozyuk, Olga V., additional, and Novoselova, Kristina A., additional

Published
2014
Full Text
View/download PDF

19. Analysis of apoptotic processes in bone marrow cell culture of lymphoma (L) patients (pts).

Author

Novoselova, Kristina A., primary, Zlatnik, Elena Yurievna, additional, Lysenko, Irina B., additional, Vladimirova, Liubov Yu, additional, Novikova, Inna Arnoldovna, additional, Peredreeva, Larisa V., additional, Nikolaeva, Nadezhda V., additional, Kapuza, Elena A., additional, Kozyuk, Olga V., additional, Snezhko, Tatyana A., additional, Shatokhina, Olga N., additional, and Dmitrieva, Viktoriya V., additional

Published
2014
Full Text
View/download PDF

20. Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Author

Markova, Tatiana G., Alekseeva, Natalia N., Ryzhkova, Oxana P., Shatokhina, Olga L., Orlova, Anna A., Zabnenkova, Viktoriia V., Groznova, Olga S., Sagaydak, Olesya V., Chibisova, Svetlana S., Polyakov, Alexander V., and Tavartkiladze, George A.

Subjects
*RECESSIVE genes, *PRESBYCUSIS, *HEARING disorders, *MISSENSE mutation, *GENETIC variation, *WHOLE genome sequencing, *PHENOTYPES
Abstract

BACKGROUND: Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the development of DFNA4B hearing loss. Currently, 8 pathogenic variants in this gene have been described. The objective of this study was to study the audiological and molecular genetic characteristics of a large family with CEACAM16-associated autosomal dominant nonsyndromic hearing loss. METHODS: A detailed anamnesis was collected, and a comprehensive audiological examination was performed for 21 family members. Genetic testing was performed, including whole-genome sequencing for the proband’s son and Sanger sequence analysis for the proband and for all available family members. RESULTS: In a large Russian family, including 5 generations, an autosomal dominant type of slowly progressing nonsyndromic late-onset hearing loss was observed. Eleven family members suffer from hearing impairment, which starts with tinnitus and threshold increase at high frequencies, since the age of 5-20 years. Hearing loss slowly progresses with age in each person and is similar to age-related hearing loss. We have detected the novel likely pathogenic variant с.419С>T (p.(Thr140Ile)) in exon 3 of the CEACAM16 gene, which segregates with late-onset nonsyndromic hearing loss in this family. CONCLUSION: The clinical data obtained in the examined family correspond with the phenotype in previously described cases. In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

21. A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Author

Tufatulin GS, Garbaruk ES, Lalayants MR, Markova TG, Mefodovskaya EK, Koroleva IV, Ryzhkova OP, Orlova MD, Shatokhina OL, Sugarova SB, and Levin SV

Subjects
Humans, Female, Adolescent, Gonadal Dysgenesis, 46,XX genetics, Gonadal Dysgenesis, 46,XX diagnosis, Phenotype, DNA Helicases, Hearing Loss, Sensorineural, Mitochondrial Proteins, Mutation, Hearing Loss, Central genetics, Hearing Loss, Central diagnosis
Abstract

Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault syndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes. A literature review and a case study of Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory neuropathy spectrum disorder (ANSD). The nucleotide variant c.1523A>G (p.(Tyr508Cys), NM_021830.5) was previously described; another variant c.1199G>T (p.(Arg400Leu) NM_021830.5) is a new one with an unknown population frequency. The main value of this case is the combination of mutations in the TWNK gene with the phenotype of ANSD, as well as the manifestation of the disease with hearing impairment but without neurological symptoms, unlike what was described in the literature. Specifically, in this case, progression of hearing disorders, ineffective amplification, and limited CI effect were noted. Genetic testing results suggested endocrine system testing, which revealed ovarian dysfunction at a preclinical stage; cerebellar ataxia was also diagnosed. The patient requires further monitoring by a multidisciplinary team.

Published
2025
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results