Functional analysis of new variants at the Low Density Lipoprotein Receptor associated with familial hypercholesterolemia

Human Mutation ◽

10.1002/humu.23801 ◽

2019 ◽

Cited By ~ 2

Author(s):

Carmen Rodríguez‐Jiménez ◽

Olga Pernía ◽

Jose Mostaza ◽

Carlos Rodríguez‐Antolín ◽

Juan Dios García‐Díaz ◽

...

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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

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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

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Faculty Opinions recommendation of 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.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.736705461.793565984 ◽

2019 ◽

Author(s):

Sergio Fazio

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

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Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)84746-4 ◽

1989 ◽

Vol 264 (28) ◽

pp. 16584-16590

Author(s):

Y Miyake ◽

S Tajima ◽

T Funahashi ◽

A Yamamoto

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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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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1.P.274 Identification of a new mutation in exon 4 of the low density lipoprotein receptor gene in patients with familial hypercholesterolemia in Spain

Atherosclerosis ◽

10.1016/s0021-9150(97)88452-3 ◽

1997 ◽

Vol 134 (1-2) ◽

pp. 74

Author(s):

J.C. Vallvé ◽

C. Alonso-Villaverde ◽

J. Margalef ◽

J. Ribalta ◽

L. Masana

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor ◽

Exon 4

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Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.12.003 ◽

2019 ◽

Vol 281 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Jiayan Guo ◽

Yan Gao ◽

Xun Li ◽

Ying He ◽

Xin Zheng ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Missense Mutations ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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A new missense mutation (Cys297?Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)

Human Genetics ◽

10.1007/bf00202819 ◽

1994 ◽

Vol 93 (5) ◽

Cited By ~ 2

Author(s):

N. Lelli ◽

R. Garuti ◽

P. Pedrazzi ◽

M. Ghisellini ◽

M.L. Simone ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Missense Mutation ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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UPDATE AND ANALYSIS OF THE UCL LOW DENSITY LIPOPROTEIN RECEPTOR GENE (LDLR) FAMILIAL HYPERCHOLESTEROLEMIA (FH) DATABASE

Atherosclerosis Supplements ◽

10.1016/s1567-5688(08)70432-x ◽

2008 ◽

Vol 9 (1) ◽

pp. 107-108 ◽

Cited By ~ 1

Author(s):

S.E. Leigh ◽

R.A. Whittall ◽

C.S. Hubbart ◽

S.E. Humphries

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis

Journal of Inherited Metabolic Disease ◽

10.1023/b:boli.0000037337.93335.c4 ◽

2004 ◽

Vol 27 (4) ◽

pp. 523-528 ◽

Cited By ~ 12

Author(s):

H. Francová ◽

M. Trbušek ◽

P. Zapletalová ◽

V. Kuhrová

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Promoter Mutations

Download Full-text