Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Single Nucleotide Variant ◽

Low Density ◽

Lipoprotein Receptor ◽

Single Nucleotide ◽

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):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

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):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

New Mutation ◽

Density Lipoprotein Receptor ◽

Exon 4

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):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Missense Mutations ◽

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):

Missense Mutation ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene

Journal of Human Genetics ◽

10.1007/s100380170051 ◽

2001 ◽

Vol 46 (8) ◽

pp. 490-493 ◽

Cited By ~ 4

Author(s):

S. E. Near ◽

J. Wang ◽

R. A. Hegele

Keyword(s):

Single Nucleotide Polymorphisms ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Very Low Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

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):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.72.3.1092 ◽

1975 ◽

Vol 72 (3) ◽

pp. 1092-1096 ◽

Cited By ~ 87

Author(s):

J. L. Goldstein ◽

S. E. Dana ◽

G. Y. Brunschede ◽

M. S. Brown

Keyword(s):

Genetic Heterogeneity ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.22.10526 ◽

1994 ◽

Vol 91 (22) ◽

pp. 10526-10530 ◽

Cited By ~ 63

Author(s):

U. M. Koivisto ◽

J. J. Palvimo ◽

O. A. Janne ◽

K. Kontula

Keyword(s):

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Base Substitution ◽

Low Density ◽

Lipoprotein Receptor ◽

Single Base ◽

Heterozygous Familial Hypercholesterolemia ◽

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 ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽