THE LDL RECEPTOR LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA: Mutational Analysis of a Membrane Protein

Surface location and high affinity for calcium of a 500-kd liver membrane protein closely related to the LDL-receptor suggest a physiological role as lipoprotein receptor.

1988 • 947 citations

Structural organization of the bcr gene and its role in the Ph′ translocation

1985 • 920 citations

Expression of wild-type and mutant forms of influenza hemagglutinin: The role of folding in intracellular transport

1986 • 879 citations

The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

1985 • 845 citations

Low density lipoprotein receptor-related protein mediates uptake of cholesteryl esters derived from apoprotein E-enriched lipoproteins.

1989 • 600 citations

Repetitive Sequences in Eukaryotic DNA and their Expression

1982 • 575 citations

The Molecular Genetics of Human Hemoglobin

1984 • 420 citations

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1987 • 399 citations

Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor

1984 • 377 citations

Common low-density lipoprotein receptor mutations in the French Canadian population.

1990 • 305 citations

Deletion in the Gene for the Low-Density-Lipoprotein Receptor in a Majority of French Canadians with Familial Hypercholesterolemia

1987 • 300 citations

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1987 • 293 citations

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor.

1988 • 281 citations

Autoimmune Target in Heymann Nephritis Is a Glycoprotein with Homology to the LDL Receptor

1989 • 268 citations

THE LDL RECEPTOR LOCUS AND THE GENETICS OF FAMILIAL HYPERCHOLESTEROLEMIA

1979 • 233 citations

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

1989 • 204 citations

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution.

1986 • 183 citations

A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.

1989 • 155 citations

A host of hypercholesterolaemic homozygotes in South Africa.

1980 • 154 citations

A sex chromosome rearrangement in a human XX male caused by Alu—Alu recombination

1987 • 154 citations

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.

1987 • 148 citations

First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins.

1987 • 115 citations

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.

1989 • 103 citations

The inheritance of familial hypercholesterolemia

1972 • 98 citations

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

1988 • 96 citations

Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions

1989 • 75 citations

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

1985 • 64 citations

The LDL Receptor in Familial Hypercholesterolemia: Use of Human Mutations to Dissect a Membrane Protein

1986 • 56 citations

New variant of low density lipoprotein receptor gene. FH-Tonami.

1988 • 46 citations

Genetically determined hypercholesterolemia in a rhesus monkey family due to a deficiency of the LDL receptor.

1988 • 43 citations

A StuI RFLP upstream of the low density lipoprotein receptor (LDLR) gene

1989 • 6 citations

Cited By (0)

Loading...