Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Aysylu Murtazina"'
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:
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:
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:
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
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, Vol 13, Iss 11, p 1991 (2022)
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://doaj.org/article/f3b130d983b24aae89176388796ea044
Autor:
Aysylu Murtazina, Nina Demina, Polina Chausova, Olga Shchagina, Artem Borovikov, Elena Dadali
Publikováno v:
Genes, Vol 13, Iss 2, p 341 (2022)
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://doaj.org/article/ce84419ae0174633884e17c636ec5386
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