Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anna A. Bukaeva"'
Autor:
Roman P. Myasnikov, Olga V. Kulikova, Alexey N. Meshkov, Anna A. Bukaeva, Anna V. Kiseleva, Alexandra I. Ershova, Anna V. Petukhova, Mikhail G. Divashuk, Evgenia D. Zotova, Evgeniia A. Sotnikova, Alexandra A. Abisheva, Alisa V. Muraveva, Sergey N. Koretskiy, Sergey V. Popov, Marina V. Utkina, Ekaterina A. Snigir, Sergey I. Mitrofanov, Ksenia D. Konureeva, Elena A. Mershina, Valentin E. Sinitsyn, Sergey M. Yudin, Oxana M. Drapkina
Publikováno v:
Genes, Vol 13, Iss 10, p 1750 (2022)
Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of MYH7-related diseases are associated with such variant types as missense substit
Externí odkaz:
https://doaj.org/article/4cab55d52da44b4bacd816cc9b839d0e
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics o
Externí odkaz:
https://doaj.org/article/5f94ddc6645a4c35bb89dda3f856cd70
Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study
Autor:
Inna S. Povolotskaya, Anna Dombrovskaya, Natalia Kotlukova, Sergey Dzemeshkevich, Elena Zaklyazminskaya, Vadim Mikhailov, Anna A. Bukaeva, Vladimir Kaimonov
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-5 (2019)
Scientific Reports
Scientific Reports
Idiopathic dilated cardiomyopathy (DCM) is a common cardiomyopathy with the prevalence of 1:250, and at least one-third of all the cases are inherited. Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10
Autor:
Bukaeva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Myasnikov R; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kulikova O; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; National Medical Research Center of Cardiology, 121552 Moscow, Russia.; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia., Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Petukhova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Zotova E; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Sparber P; Research Centre for Medical Genetics, 115522 Moscow, Russia., Ershova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kudryavtseva M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991 Moscow, Russia., Koretskiy S; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Mershina E; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Ramensky V; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991 Moscow, Russia.; MSU Institute for Artificial Intelligence, Lomonosov Moscow State University, 119991 Moscow, Russia., Zaicenoka M; Moscow Center for Advanced Studies, 123592 Moscow, Russia., Vyatkin Y; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; MSU Institute for Artificial Intelligence, Lomonosov Moscow State University, 119991 Moscow, Russia., Muraveva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Abisheva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Nikityuk T; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Sinitsyn V; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; All-Russia Research Institute of Agricultural Biotechnology, 127550 Moscow, Russia., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia., Pokrovskaya M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jul 10; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 10.
Autor:
Myasnikov R; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Bukaeva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia.; Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Russia., Kulikova O; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Ershova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Petukhova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia.; Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Russia., Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; All-Russia Research Institute of Agricultural Biotechnology, 127550 Moscow, Russia., Zotova E; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia.; Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Russia., Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kharlap M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia., Vyatkin Y; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Ramensky V; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Abisheva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia.; Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Russia., Muraveva A; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia.; Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Russia., Koretskiy S; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kudryavtseva M; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Popov S; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Utkina M; Federal State Budgetary Institution 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Mershina E; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Sinitsyn V; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Kogan E; Department of Faculty Therapy, I.M. Sechenov First Moscow Medical University (Sechenov University), 119991 Moscow, Russia., Blagova O; Department of Faculty Therapy, I.M. Sechenov First Moscow Medical University (Sechenov University), 119991 Moscow, Russia., Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.
Publikováno v:
Genes [Genes (Basel)] 2022 Feb 07; Vol. 13 (2). Date of Electronic Publication: 2022 Feb 07.
The LDLR , APOB , and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Autor:
Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Ershova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Zotova E; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Petukhova A; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia., Malyshev P; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia., Rozhkova T; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia., Blokhina A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Limonova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Ramensky V; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia., Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Khasanova Z; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia., Bukaeva A; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Kurilova O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Skirko O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Pokrovskaya M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia., Mikova V; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Snigir E; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Akinshina A; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Mitrofanov S; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Kashtanova D; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Makarov V; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Kukharchuk V; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia., Boytsov S; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia., Yudin S; Centre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia., Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Publikováno v:
Genes [Genes (Basel)] 2021 Jan 06; Vol. 12 (1). Date of Electronic Publication: 2021 Jan 06.
Autor:
Zaklyazminskaya E; Petrovsky National Research Center of Surgery, 2, Abricosovsky side-street, 119991, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia., Mikhailov V; Petrovsky National Research Center of Surgery, 2, Abricosovsky side-street, 119991, Moscow, Russia. mihailov.vadim@gmail.com., Bukaeva A; Petrovsky National Research Center of Surgery, 2, Abricosovsky side-street, 119991, Moscow, Russia., Kotlukova N; Pirogov Russian National Research Medical University, Moscow, Russia.; Bashlyaeva Pediatric City Hospital, Moscow, Russia., Povolotskaya I; Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russian Federation., Kaimonov V; Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russian Federation., Dombrovskaya A; Petrovsky National Research Center of Surgery, 2, Abricosovsky side-street, 119991, Moscow, Russia., Dzemeshkevich S; Petrovsky National Research Center of Surgery, 2, Abricosovsky side-street, 119991, Moscow, Russia.
Publikováno v:
Scientific reports [Sci Rep] 2019 Nov 11; Vol. 9 (1), pp. 16409. Date of Electronic Publication: 2019 Nov 11.