Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Sergey Kutsev"'
Autor:
Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova, Daniil Degterev, Olga Shchagina, Tatiana Cherevatova, Maria Bulakh, Darya Sherstyukova, Oksana Ryzhkova, Olga Kurushina, Mikhail Skoblov, Artem Borovikov, Sergey Kutsev
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM hav
Externí odkaz:
https://doaj.org/article/0e97c5b455b14c928a3ae1cdf362ce68
Autor:
Olga Shchagina, Aysylu Murtazina, Polina Chausova, Mariya Orlova, Elena Dadali, Sergei Kurbatov, Sergey Kutsev, Aleksander Polyakov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction:Charcot–Marie–Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This disorder results from biallelic pathogenic variants in the SH3TC2 gene.Method
Externí odkaz:
https://doaj.org/article/3d34053f980542aab2439eedeeee24e9
Autor:
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with musc
Externí odkaz:
https://doaj.org/article/9a7624574df34854837d3f4281fc3dae
Autor:
Ekaterina Kondrateva, Olga Grigorieva, Irina Panchuk, Igor Bychkov, Ekaterina Zakharova, Vyacheslav Tabakov, Victoria Pozhitnova, Ekaterina Voronina, Olga Shchagina, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103259- (2023)
Skin fibroblasts obtained from a 5-year-old girl with genetically proven (two heterozygous mutations in ARSB gene) and clinically manifested mucopolysaccharidosis type VI were successfully transformed into induced pluripotent stem cells by using Send
Externí odkaz:
https://doaj.org/article/1284f0a760894ca98c3c93f0fbd1179f
Autor:
Anna Efremova, Nataliya Kashirskaya, Stanislav Krasovskiy, Yuliya Melyanovskaya, Maria Krasnova, Diana Mokrousova, Nataliya Bulatenko, Elena Kondratyeva, Oleg Makhnach, Tatiana Bukharova, Rena Zinchenko, Sergey Kutsev, Dmitry Goldshtein
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2770 (2024)
p.Asn1303Lys (N1303K) is a common missense variant of the CFTR gene, causing cystic fibrosis (CF). In this study, we initially evaluated the influence of CFTR modulators on the restoration of N1303K-CFTR function using intestinal organoids derived fr
Externí odkaz:
https://doaj.org/article/571ae863c32445f796cf8c96e950830c
Autor:
Ekaterina Kondrateva, Olga Grigorieva, Elizaveta Kurshakova, Irina Panchuk, Victoria Pozhitnova, Ekaterina Voronina, Vyacheslav Tabakov, Maria Orlova, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Publikováno v:
Stem Cell Research, Vol 70, Iss , Pp 103133- (2023)
Urine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were successfully transformed into induced pluripotent stem cells by using Sendai virus-based rep
Externí odkaz:
https://doaj.org/article/9a6e25fd826248969e58a1e427c2ad38
Autor:
Elena Kondratyeva, Nataliya Bulatenko, Yuliya Melyanovskaya, Anna Efremova, Elena Zhekaite, Viktoriya Sherman, Anna Voronkova, Irina Asherova, Alexander Polyakov, Tagui Adyan, Valeriia Kovalskaia, Tatiana Bukharova, Dmitry Goldshtein, Sergey Kutsev
Publikováno v:
Current Issues in Molecular Biology, Vol 44, Iss 10, Pp 5126-5138 (2022)
The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months in a patient with the initially established F508de
Externí odkaz:
https://doaj.org/article/0364ecb107294e5480236959fa7da300
Autor:
Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 1, p 129 (2023)
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have bee
Externí odkaz:
https://doaj.org/article/f34d200cf4c847138a90179aa46fb7dc
Autor:
Olga Shchagina, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, Aleksander Polyakov
Publikováno v:
Biomedicines, Vol 12, Iss 1, p 72 (2023)
Variants that affect splice sites comprise 14.3% of all pathogenic variants in the SERPING1 gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to k
Externí odkaz:
https://doaj.org/article/a972e169c9b747f0bc7e0b4ec68beb0d
Autor:
Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev
Publikováno v:
International Journal of Translational Medicine, Vol 2, Iss 2, Pp 210-219 (2022)
Multiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types of the genetically heterogeneous group of skeletal dysplasias characterized by impaired ossification of the epiphyses of long bones. To date, it is known that the
Externí odkaz:
https://doaj.org/article/988fd30a361c4dac8155fde2d0d2df4e