PCSK9 mutations found in patients diagnosed with autosomal dominant hypercholesterolemia in the Netherlands

被引：0
|
作者：
Fouchier, SW
Peter, J
Lansberg, PJ
Kastelein, JJ
Defesche, JC
机构：
[1] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
[2] Fdn Identificat Persons Inherited Hypercholestero, Amsterdam, Netherlands
来源：
CIRCULATION | 2004年 / 110卷 / 17期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：118 / 118
页数：1
相关论文
共 50 条
  • [41] PCSK9: an emerging target for treatment of hypercholesterolemia
    Duff, Christopher J.
    Hooper, Nigel M.
    EXPERT OPINION ON THERAPEUTIC TARGETS, 2011, 15 (02) : 157 - 168
  • [42] PCSK9 INHIBITOR UTILIZATION IN FAMILIAL HYPERCHOLESTEROLEMIA
    Jackson, Candace
    Deng, Yihong
    Yao, Xiaoxi
    Van Houten, Holly
    Shah, Nilay
    Kopecky, Stephen
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2020, 75 (11) : 1873 - 1873
  • [43] Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
    Maria Donata Di Taranto
    Asier Benito-Vicente
    Carola Giacobbe
    Kepa Belloso Uribe
    Paolo Rubba
    Aitor Etxebarria
    Ornella Guardamagna
    Marco Gentile
    Cesar Martín
    Giuliana Fortunato
    Scientific Reports, 7
  • [44] Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
    Di Taranto, Maria Donata
    Benito-Vicente, Asier
    Giacobbe, Carola
    Uribe, Kepa Belloso
    Rubba, Paolo
    Etxebarria, Aitor
    Guardamagna, Ornella
    Gentile, Marco
    Martin, Cesar
    Fortunato, Giuliana
    SCIENTIFIC REPORTS, 2017, 7
  • [45] Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia
    Benito-Vicente, Asier
    Uribe, Kepa B.
    Larrea-Sebal, Asier
    Palacios, Lourdes
    Cenarro, Ana
    Calle, Xabier
    Galicia-Garcia, Unai
    Jebari-Benslaiman, Shifa
    Sanchez-Hernandez, Rosa M.
    Stef, Marianne
    Lambert, Gilles
    Civeira, Fernando
    Martin, Cesar
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2022, 42 (07) : E203 - E216
  • [46] A Decision Aid for the Use of PCSK9 Inhibitors in Patients With Familial Hypercholesterolemia
    Farwati, Medhat
    Shaw, Kevin
    Hargraves, Ian G.
    Montori, Victor M.
    Kullo, Iftikhar J.
    CIRCULATION, 2018, 138
  • [47] How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?
    Masana, Luis
    Plana, Nuria
    Perez-Calahorra, Sofia
    Ibarretxe, Daiana
    Lamiquiz-Moneo, Itziar
    Pedro-Botet, Juan
    Suarez-Tembra, Manuel
    Valdivielso, Pedro
    Ortega, Emilio
    Civeira, Fernando
    ATHEROSCLEROSIS, 2017, 262 : 107 - 112
  • [48] Identification and molecular characterization of new PCSK9 missense mutations associated with familial hypercholesterolemia
    Homer, Vivienne
    Marais, David
    Laurie, Andrew
    Charlton, Francesca
    Sullivan, David
    Barter, Philip
    Rye, Kerry-Anne
    George, Peter
    Lambert, Gilles
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2007, 27 (06) : E122 - E122
  • [49] Impact of PCSK9 mutations on incidences of hypercholesterolemia: A meta-analysis to infer correlation
    Singhal, Monisha
    Agrawal, Raadhika
    Gupta, Nidhi
    META GENE, 2022, 31
  • [50] LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy
    Hamasaki, Masato
    Sakane, Naoki
    Hara, Kazuo
    Kotani, Kazuhiko
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2021, 35 (11)
12345