Zobrazeno 1 - 10
of 580
pro vyhledávání: '"Low-density lipoprotein receptor gene"'
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:
Olga V. Timoshchenko, Dinara E. Ivanoshchuk, Sergey E. Semaev, Lyudmila D. Latyntseva, Elena V. Shakhtshneider
Publikováno v:
Атеросклероз, Vol 18, Iss 1, Pp 76-80 (2022)
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development
Externí odkaz:
https://doaj.org/article/680621aa4f184a039ff0cc2a81f8233c
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
We report a single-point variant of low-density lipoprotein receptor (LDLR) in a Chinese proband with a clinical diagnosis of familial hypercholesterolemia (FH) with a comprehensive functional analysis. Target exome capture-based next-generation sequ
Externí odkaz:
https://doaj.org/article/b27068b2cbf743aab15daccf72d82f91
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the sea
Externí odkaz:
https://doaj.org/article/350323331411444da1c173534198a746
Autor:
Saito, Akihiko, Yamazaki, Hajime, Rader, Katherine, Nakatani, Akiko, Ullrich, Robert, Kerjaschki, Dontscho, Orlando, Robert A., Farquhar, Marilyn Gist
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1996 Aug 01. 93(16), 8601-8605.
Externí odkaz:
https://www.jstor.org/stable/39910
Autor:
Alessio Buonaiuto, Maria Donata Di Taranto, Ilenia Calcaterra, Marco Gentile, Paolo Rubba, Giuliana Fortunato, Carola Giacobbe, M. Tripaldella, Matteo Nicola Dario Di Minno, Gabriella Iannuzzo, Francesco Forte
Publikováno v:
Nutrition, Metabolism and Cardiovascular Diseases. 32:684-691
Background and Aims Familial hypercholesterolemia (FH) is an autosomal dominant disease that leads to cardiovascular (CV) disease. Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9-I) demonstrated efficacy in low-density lipoprotein cho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14be8705d8c715eb5ab055c4465f342c
https://doi.org/10.1016/j.numecd.2021.10.025
https://doi.org/10.1016/j.numecd.2021.10.025
Autor:
M. I. Voevoda, E. V. Shakhtshneider, K. V. Makarenkova, D. E. Ivanoshchuk, P. S. Orlov, Yu. I. Ragino
Publikováno v:
Атеросклероз, Vol 11, Iss 4, Pp 5-10 (2015)
Familial hypercholesterolemia (FH) is one of the most common congenital metabolic disorders. Cascade genetic screening used for diagnostic of patients with FH. Aim of study is to explore the awareness of FH patients of the problem of familial hyperch
Externí odkaz:
https://doaj.org/article/39250d59101a4847a2f36616d81c43ca
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 2, Pp 366-372 (2005)
Autosomal dominant (AD) familial hypercholesterolemia [FH; Mendelian Inheritance in Man (MIM) 143890] typically results from mutations in the LDL receptor gene (LDLR), which are now commonly diagnosed using exon-by-exon screening methods, such as exo
Externí odkaz:
https://doaj.org/article/10e56f2031a1492cb09135bc853e2c21
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
We report a single-point variant of low-density lipoprotein receptor (LDLR) in a Chinese proband with a clinical diagnosis of familial hypercholesterolemia (FH) with a comprehensive functional analysis. Target exome capture-based next-generation sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b243689eccf69d5b4ca8f30547769525
https://doi.org/10.3389/fgene.2021.650077
https://doi.org/10.3389/fgene.2021.650077
Publikováno v:
Pakistan Journal of Medical Sciences
Objective: To determine the frequency of mutations in Low density lipoprotein receptor gene at exon 2 and 4 and its association with premature coronary artery disease (PCAD). Methods: A case-control study was conducted at Armed Forces Institute of Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c93a38f62d3437d142a84758ac55a140
http://europepmc.org/articles/PMC6659052
http://europepmc.org/articles/PMC6659052