Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms

Human Genetics ◽

10.1007/bf00191796 ◽

1995 ◽

Vol 96 (4) ◽

pp. 401-406 ◽

Author(s):

Armand V. Peeters ◽

Luc F. Van Gaal ◽

Leonora Theart ◽

Elzet Langenhoven ◽

Maritha J. Kotze

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Frameshift Mutations ◽

Density Lipoprotein Receptor ◽

Endogenous Sequence

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FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation

Human Mutation ◽

10.1002/humu.1380040408 ◽

1994 ◽

Vol 4 (4) ◽

pp. 276-280 ◽

Author(s):

J. A. Cavanaugh ◽

S. Easteal ◽

L. A. Simons ◽

D. W. Thomas ◽

S. W. Serjeantson

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Frameshift Mutations ◽

Density Lipoprotein Receptor ◽

Exon 10 ◽

Heteroduplex Formation

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Regulation of low density lipoprotein receptor gene expression in HepG2 and Caco2 cells by palmitate, oleate, and 25-hydroxycholesterol

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)39730-3 ◽

1995 ◽

Vol 36 (7) ◽

pp. 1434-1446

Author(s):

R A Srivastava ◽

H Ito ◽

M Hess ◽

N Srivastava ◽

G Schonfeld

Keyword(s):

Gene Expression ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Caco2 Cells ◽

Density Lipoprotein Receptor ◽

Receptor Gene Expression

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The somatic cell-specific low density lipoprotein receptor-related protein of the chicken. Close kinship to mammalian low density lipoprotein receptor gene family members.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)42336-2 ◽

1994 ◽

Vol 269 (1) ◽

pp. 212-219 ◽

Author(s):

J. Nimpf ◽

S. Stifani ◽

P.T. Bilous ◽

W.J. Schneider

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Related Protein ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Lipoprotein Receptor Related Protein ◽

Receptor Gene Family

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Low-density lipoprotein receptor gene transfer in hypercholesterolemic mice improves cardiac function after myocardial infarction

Gene Therapy ◽

10.1038/gt.2011.147 ◽

2011 ◽

Vol 19 (8) ◽

pp. 860-871 ◽

Author(s):

E Van Craeyveld ◽

F Jacobs ◽

S C Gordts ◽

B De Geest

Keyword(s):

Myocardial Infarction ◽

Gene Transfer ◽

Cardiac Function ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

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 ◽

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Homozygous mutations of low-density lipoprotein receptor gene in a family with familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.06.549 ◽

2018 ◽

Vol 275 ◽

pp. e180

Author(s):

A. AL-Khateeb ◽

N.A. Mohd Kasim ◽

Y.A. Chua ◽

S.N.F. Ismail ◽

L.K. The ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Homozygous Mutations

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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 ◽

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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An alanine29-serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia

Clinical Genetics ◽

10.1111/j.1399-0004.1994.tb04228.x ◽

2008 ◽

Vol 46 (2) ◽

pp. 214-215 ◽

Author(s):

H. K. Jensen ◽

L. G. Jensen ◽

P. S. Hansen ◽

L. S. Petersen ◽

L. U. Gerdes ◽

...

Keyword(s):

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Exon 2 ◽

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 ◽

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

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Ultrasound-targeted microbubble destruction improves the low density lipoprotein receptor gene expression in HepG2 cells

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2006.02.179 ◽

2006 ◽

Vol 343 (2) ◽

pp. 470-474 ◽

Author(s):

Dong-Ping Guo ◽

Xiao-Yu Li ◽

Ping Sun ◽

Yi-Bo Tang ◽

Xiu-Ying Chen ◽

...

Keyword(s):

Gene Expression ◽

Hepg2 Cells ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Receptor Gene Expression

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