Zobrazeno 1 - 9
of 9
pro vyhledávání: '"T. Yu. Bogoslovskaya"'
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 26, Iss 3, Pp 319-326 (2022)
Familial hypercholesterolemia (FH) is a very common human hereditary disease in Russia and in the whole world with most of mutations localized in the gene coding for the low density lipoprotein receptor (LDLR). The object of this review is to systema
Externí odkaz:
https://doaj.org/article/12efa716ef884ebfbeaa8c037afd057a
Autor:
V. A. Korneva, T. Yu. Kuznetsova, T. Yu. Bogoslovskaya, R. Z. Murtazina, A. V. Didio, M. P. Serebrenitskaya, V. O. Konstantinov, M. Yu. Mandelshtam, V. B. Vasiliev
Publikováno v:
Кардиоваскулярная терапия и профилактика, Vol 14, Iss 6, Pp 52-53 (2015)
Clinical case of a patient with family hypercholesterolemia caused by mutation c.1859G>C (p.W620S) in the gene of human low density lipoproteins receptor.
Externí odkaz:
https://doaj.org/article/a43422fb12344776a864c9543e81a2e3
Publikováno v:
КардиоСоматика, Vol 6, Iss 1, Pp 46-49 (2015)
Familial hypercholesterolemia (FHC) - hereditary dyslipidemia, which is based on mutations in the gene for low-density lipoprotein receptor.However, there is variability in the clinical manifestations of the disease difficult to assess individual ris
Externí odkaz:
https://doaj.org/article/0952261ae274439fa653d929a428aee3
Autor:
V. A. Korneva, F. M. Zacharova, M. Yu. Mandelstam, T. Yu. Bogoslovskaya, A. V. Orlov, V. B. Vasilyev, T. Yu. Kuznetsova
Publikováno v:
Kardiologiia. 62(11)
Aim To compare results of clinical, laboratory, and genetic examination of patients with familial hypercholesterolemia (FHC).Material and methods 112 patients aged 40.2±17.9 years (49 men) were examined. The gene of low-density lipoprotein receptor
Publikováno v:
Vavilovskii zhurnal genetiki i selektsii. 26(3)
Familial hypercholesterolemia (FH) is a very common human hereditary disease in Russia and in the whole world with most of mutations localized in the gene coding for the low density lipoprotein receptor (LDLR). The object of this review is to systema
Autor:
Vadim B. Vasilyev, A V Sokolov, M. Yu. Mandelshtam, D. S. Polyakov, T. Yu. Bogoslovskaya, N. A. Grudinina
Publikováno v:
Cell and Tissue Biology. 12:153-159
Mutations in the low density lipoprotein receptor gene (LDLR) frequently impair folding and intracellular traffic of the receptor protein, resulting in the development of a monogenic disorder, familial hypercholesterolemia (FH). Identification of nov
Publikováno v:
КардиоСоматика, Vol 6, Iss 1, Pp 46-49 (2015)
Familial hypercholesterolemia (FHC) - hereditary dyslipidemia, which is based on mutations in the gene for low-density lipoprotein receptor.However, there is variability in the clinical manifestations of the disease difficult to assess individual ris
Autor:
V A, Korneva, T Yu, Kuznetsova, R Z, Murtazina, A V, Didio, T Yu, Bogoslovskaya, M Yu, Mandelshtam, V B, Vasilyev
Publikováno v:
Kardiologiia. 57(2)
During investigation of molecular nature of familial hypercholesterolemia (FH) in Petrozavodsk (Russia) cohort of patients a novel low density lipoprotein (LDL) receptor gene mutation was found. This mutation designated c.1327 TC (W443R [W422R]) was
Autor:
T. Yu. Kuznetsova, Artemy V Orlov, D. S. Polyakov, M. Yu. Mandelshtam, T. Yu. Bogoslovskaya, Vadim B. Vasilyev, V. A. Korneva
Publikováno v:
Cholesterol, Vol 2017 (2017)
Cholesterol
Cholesterol
Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. In 52 of these patients