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
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01a47705888a6d36dd416262fee36d6d
https://pubmed.ncbi.nlm.nih.gov/36521042
https://pubmed.ncbi.nlm.nih.gov/36521042
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1de5afb1e4ee2a43c7ae6988bf34454a
https://pubmed.ncbi.nlm.nih.gov/35774363
https://pubmed.ncbi.nlm.nih.gov/35774363
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
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b0534b7ea4c8f9723690964fd184783
https://doi.org/10.1134/s1990519x18020098
https://doi.org/10.1134/s1990519x18020098
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4f79b7d1bc9cd60123e06dceadd4c5
https://cardiosomatics.orscience.ru/2221-7185/article/view/45144
https://cardiosomatics.orscience.ru/2221-7185/article/view/45144
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f27a22083dab482b64b49b688e4a6d8
https://pubmed.ncbi.nlm.nih.gov/28290784
https://pubmed.ncbi.nlm.nih.gov/28290784
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72c5fc44c05499df55995a92e2973a0
https://doaj.org/article/de63b7c0b51b42daa258680909b56435
https://doaj.org/article/de63b7c0b51b42daa258680909b56435