Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Aysylu Murtazina"'
Autor:
Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to bialle
Externí odkaz:
https://doaj.org/article/82f27920e9a64bbabb574a97777b72d6
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:
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:
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
Autor:
Margarita Sharova, Darya Guseva, Alexey Kurenkov, Olga Novoselova, Aysylu Murtazina, Mikhail Skoblov
Publikováno v:
American Journal of Medical Genetics Part A. 188:3100-3105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7913c483bb2ffc8aa5dcfcdfd5847a1d
https://doi.org/10.1002/ajmg.a.62898
https://doi.org/10.1002/ajmg.a.62898
Autor:
Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina, Anna Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 1991
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837ff9a44a0f94e946bf4972d4ed615f
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. 24:8409
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://explore.openaire.eu/search/publication?articleId=doi_________::a8a79759310bce768c6f38b0009c97f3
https://doi.org/10.3390/ijms24098409
https://doi.org/10.3390/ijms24098409
Autor:
Aysylu Murtazina, Nina Demina, Polina Chausova, Olga Shchagina, Artem Borovikov, Elena Dadali
Publikováno v:
Genes. 13:341
Congenital myopathy associated with pathogenic variants in the STAC3 gene has long been considered native American myopathy (NAM). In 2017, the first case of a non-Amerindian patient with this myopathy was described. Here, we report the first Russian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1404b9816462850cfd71cd519a403c1d
https://doi.org/10.3390/genes13020341
https://doi.org/10.3390/genes13020341