Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Olga Shchagina"'
Autor:
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 g
Externí odkaz:
https://doaj.org/article/9b18c72810344e36991efc0b72f3c6ef
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:
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov
Publikováno v:
Biomedicines, Vol 12, Iss 10, p 2234 (2024)
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of
Externí odkaz:
https://doaj.org/article/ad0453ce9d92417ea043e16d0daff4da
Autor:
Anna Kuchina, Aysylu Murtazina, Artem Borovikov, Dmitrii Subbotin, Sergey Bardakov, Maria Akhkiamova, Aleksandra Nikolaeva, Olga Shchagina, Sergey Kutsev
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10841 (2024)
We report a case of SYNE1-associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two n
Externí odkaz:
https://doaj.org/article/2583076e9bb7454a8b9b493e22c27278
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:
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:
Vyacheslav Chernykh, Stanislav Krasovsky, Olga Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut, Anna Sedova, Tatyana Sorokina, Tatyana Beskorovainaya, Elena Kondratyeva, Olga Shchagina, Aleksandr Polyakov
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16287 (2023)
Pathogenic CFTR variants cause cystic fibrosis (CF), and CF-related disorders (CF-RD), including bilateral aplasia of the vas deferens (CBAVD). The spectrum of clinical manifestations depends on the CFTR genotype. The frequency and spectrum of the CF
Externí odkaz:
https://doaj.org/article/02f34e67e3a04993873264ea40407a73
Autor:
Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of f
Externí odkaz:
https://doaj.org/article/3f2af9352416499c8061944c926ff67e
Autor:
Olga Shchagina, Vera Kurilova, Elena Zinina, Vyacheslav Porubov, Svetlana Efishova, Aleksander Polyakov
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 15, p 12357 (2023)
We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was
Externí odkaz:
https://doaj.org/article/66b9dbb16ed844ea807cd9964a1a16c1