Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)

Aurélie Thedrez; Dirk J. Blom; Stéphane Ramin-Mangata; Valentin Blanchard; Mikaël Croyal; Kévin Chemello; Brice Nativel; Matthieu Pichelin; Bertrand Cariou; Steeve Bourane; Lihua Tang; Michel Farnier; Frederick J. Raal; Gilles Lambert

doi:10.1161/atvbaha.117.310217

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/atvbaha.117.310217 ◽

2018 ◽

Vol 38 (3) ◽

pp. 592-598 ◽

Cited By ~ 32

Author(s):

Aurélie Thedrez ◽

Dirk J. Blom ◽

Stéphane Ramin-Mangata ◽

Valentin Blanchard ◽

Mikaël Croyal ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Identification of a New Mutation, S305C, in Exon 7 of the Low-Density Lipoprotein Receptor Gene in a Brazilian Family with Homozygous Familial Hypercholesterolemia

Genetic Testing ◽

10.1089/109065703321560994 ◽

2003 ◽

Vol 7 (1) ◽

pp. 77-79 ◽

Cited By ~ 2

Author(s):

Laura van de Kerkhof ◽

Silvia J. Van Eijk ◽

Joep C. Defesche ◽

José-Ernesto Dos-Santos

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor

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Biodistribution of AAV8 Vectors Expressing Human Low-Density Lipoprotein Receptor in a Mouse Model of Homozygous Familial Hypercholesterolemia

Human Gene Therapy Clinical Development ◽

10.1089/humc.2013.082 ◽

2013 ◽

Vol 24 (4) ◽

pp. 154-160 ◽

Cited By ~ 22

Author(s):

Shu-Jen Chen ◽

Julio Sanmiguel ◽

Martin Lock ◽

Deirdre McMenamin ◽

Christine Draper ◽

...

Keyword(s):

Mouse Model ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2014.11.011 ◽

2015 ◽

Vol 9 (2) ◽

pp. 234-240 ◽

Cited By ~ 7

Author(s):

Cheng-Hung Huang ◽

Pao-Chin Chiu ◽

Hao-Chuan Liu ◽

Yung-Hsiu Lu ◽

Jun-Kai Huang ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Clinical Observations ◽

Density Lipoprotein Receptor

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Three mutations including two deletions of the low density lipoprotein receptor gene in Japanese patients with homozygous familial hypercholesterolemia.

Japanese Journal of Medicine ◽

10.2169/internalmedicine1962.28.661 ◽

1989 ◽

Vol 28 (5) ◽

pp. 661-662

Author(s):

Tohru FUNAHASHI ◽

Yasuko MIYAKE ◽

Akira YAMAMOTO

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Japanese Patients ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Mutation of the Low Density Lipoprotein Receptor in Homozygous Familial Hypercholesterolemia: Analysis by Monoclonal Antibody

The Journal of Japan Atherosclerosis Society ◽

10.5551/jat1973.15.4_929 ◽

1987 ◽

Vol 15 (4) ◽

pp. 929-933

Author(s):

Tohru FUNAHASHI ◽

Yasuko MIYAKE ◽

Taku YAMAMURA ◽

Akira YAMAMOTO ◽

Shizuya YAMASHITA ◽

...

Keyword(s):

Monoclonal Antibody ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Normalization of Low-Density Lipoprotein Receptor Expression in Receptor Defective Homozygous Familial Hypercholesterolemia by Inhibition of PCSK9 With Alirocumab

Journal of the American College of Cardiology ◽

10.1016/j.jacc.2014.07.995 ◽

2014 ◽

Vol 64 (21) ◽

pp. 2299-2300 ◽

Cited By ~ 24

Author(s):

Gilles Lambert ◽

Mathias Chatelais ◽

Francine Petrides ◽

Maxime Passard ◽

Aurélie Thedrez ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Receptor Expression ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C→T mutation of low-density lipoprotein receptor gene

Chinese Medical Journal ◽

10.1097/00029330-200805010-00002 ◽

2008 ◽

Vol 121 (9) ◽

pp. 776-781 ◽

Cited By ~ 5

Author(s):

Jie LIN ◽

Lu-ya WANG ◽

Shu LIU ◽

Jun-hui XIA ◽

Qiang YONG ◽

...

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

The Efficacy and Safety of Evinacumab in Homozygous Familial Hypercholesterolemia Patients with Little to No Low-Density Lipoprotein Receptor Activity

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2020.05.019 ◽

2020 ◽

Vol 14 (4) ◽

pp. 552

Author(s):

Robert Rosenson ◽

Frederick Raal ◽

Laurens Reeskamp ◽

John Kastelein ◽

Seth Baum ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Receptor Activity ◽

Low Density ◽

Lipoprotein Receptor ◽

Efficacy And Safety ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/atvbaha.119.313051 ◽

2019 ◽

Vol 39 (11) ◽

pp. 2248-2260 ◽

Cited By ~ 13

Author(s):

Poulabi Banerjee ◽

Kuo-Chen Chan ◽

Michel Tarabocchia ◽

Asier Benito-Vicente ◽

Ana C. Alves ◽

...

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Low density lipoprotein receptor activity in homozygous familial hypercholesterolemia fibroblasts.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)33594-4 ◽

1982 ◽

Vol 257 (21) ◽

pp. 12857-12865

Author(s):

C F Semenkovich ◽

R E Ostlund ◽

R A Levy ◽

S R Osa

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Receptor Activity ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text