Published in Proc Natl Acad Sci U S A on June 01, 1986
Majority of divergence between closely related DNA samples is due to indels. Proc Natl Acad Sci U S A (2003) 1.82
Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82
Factors affecting inverted repeat stimulation of recombination and deletion in Saccharomyces cerevisiae. Genetics (1998) 1.78
Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A (1989) 1.61
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res (1995) 1.49
Inverted repeat structure of the Sry locus in mice. Proc Natl Acad Sci U S A (1992) 1.48
A hotspot for novel amplification joints in a mosaic of Alu-like repeats and palindromic A + T-rich DNA. EMBO J (1987) 1.47
Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci U S A (1987) 1.45
An allele of RFA1 suppresses RAD52-dependent double-strand break repair in Saccharomyces cerevisiae. Genetics (1999) 1.44
Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. Nucleic Acids Res (1987) 1.31
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc Natl Acad Sci U S A (1987) 1.28
Molecular basis of human growth hormone gene deletions. Proc Natl Acad Sci U S A (1988) 1.24
Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells. Nucleic Acids Res (1988) 1.14
Comparative mapping of the constitutional and tumor-associated 11;22 translocations. Am J Hum Genet (1989) 1.13
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. J Clin Invest (1987) 1.12
Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A (1989) 1.10
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest (1988) 1.08
Identification of deletions in the human low density lipoprotein receptor gene. J Med Genet (1987) 1.08
Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1. Am J Hum Genet (1990) 1.04
Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet (1993) 1.03
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Am J Hum Genet (1988) 1.02
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. J Clin Invest (1989) 1.00
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A (1994) 0.98
Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. J Med Genet (2000) 0.98
Human retinoblastoma gene: long-range mapping and analysis of its deletion in a breast cancer cell line. Mol Cell Biol (1989) 0.98
Localization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemia. Proc Natl Acad Sci U S A (1989) 0.97
Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. Am J Hum Genet (1998) 0.96
Somatic mosaicism in a patient with bilateral retinoblastoma. Am J Hum Genet (1990) 0.95
Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat (2010) 0.95
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. Am J Hum Genet (1989) 0.95
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer (2011) 0.94
Breakpoint junctions of chromosome 9p deletions in two human glioma cell lines. Mol Cell Biol (1994) 0.89
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet (1993) 0.89
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet (1995) 0.83
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J Med Genet (1991) 0.83
Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability. Nucleic Acids Res (1992) 0.80
Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus. J Med Genet (1988) 0.79
A composite transposon 3' to the cow fetal globin gene binds a sequence specific factor. Nucleic Acids Res (1987) 0.78
Integration of a vector containing rodent repetitive elements in the rat genome. Nucleic Acids Res (1987) 0.78
A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia). Am J Hum Genet (1992) 0.77
A study of familial hypercholesterolaemia in Iceland using RFLPs. J Med Genet (1989) 0.77
Molecular origin of the mosaic sequence arrangements of higher primate alpha-globin duplication units. Proc Natl Acad Sci U S A (1997) 0.75
DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54
Genomic sequencing. Proc Natl Acad Sci U S A (1984) 92.36
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54
Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol (1985) 11.53
Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol (1981) 7.94
The Alu family of dispersed repetitive sequences. Science (1982) 7.90
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet (1984) 5.74
The LDL receptor gene: a mosaic of exons shared with different proteins. Science (1985) 5.49
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51
Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts. Gene (1983) 4.00
Unexpected relationships between four large deletions in the human beta-globin gene cluster. Cell (1983) 3.57
The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell (1986) 3.44
Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell (1985) 3.13
Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein. Cell (1976) 2.62
Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic. Cell (1977) 2.24
Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia. J Biol Chem (1982) 2.13
cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA. Proc Natl Acad Sci U S A (1983) 1.98
Changes in the frequency of specific transcripts during development of the pancreas. J Biol Chem (1977) 1.90
A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin. Nature (1982) 1.77
Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc Natl Acad Sci U S A (1985) 1.63
The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Nature (1982) 1.56
Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia. Hum Genet (1985) 1.08
A receptor-mediated pathway for cholesterol homeostasis. Science (1986) 19.28
Regulation of the mevalonate pathway. Nature (1990) 18.25
The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell (1997) 17.78
Coated pits, coated vesicles, and receptor-mediated endocytosis. Nature (1979) 17.18
The low-density lipoprotein pathway and its relation to atherosclerosis. Annu Rev Biochem (1977) 13.34
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54
Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol (1985) 11.53
Binding site on macrophages that mediates uptake and degradation of acetylated low density lipoprotein, producing massive cholesterol deposition. Proc Natl Acad Sci U S A (1979) 11.19
Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J Biol Chem (1989) 11.06
Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol (1983) 10.95
Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest (1993) 9.56
ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell (2000) 9.13
Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterol receptors, LXRalpha and LXRbeta. Genes Dev (2000) 9.09
Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 9.02
Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev (1997) 8.51
Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans. Cell (2000) 8.29
Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a. J Clin Invest (1996) 7.93
Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts. Cell (1977) 7.74
Lipoprotein metabolism in the macrophage: implications for cholesterol deposition in atherosclerosis. Annu Rev Biochem (1983) 7.70
HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions. Cell (1984) 7.66
A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. Proc Natl Acad Sci U S A (1999) 7.48
SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell (1994) 7.10
SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell (1993) 6.95
Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J Lipid Res (1980) 6.50
Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts. Proc Natl Acad Sci U S A (1976) 6.38
Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells. J Clin Invest (1997) 6.18
Isoform 1c of sterol regulatory element binding protein is less active than isoform 1a in livers of transgenic mice and in cultured cells. J Clin Invest (1997) 6.16
Recycling receptors: the round-trip itinerary of migrant membrane proteins. Cell (1983) 5.99
Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice. Mol Cell (2000) 5.92
NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J Biol Chem (1990) 5.91
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest (1973) 5.87
Insulin selectively increases SREBP-1c mRNA in the livers of rats with streptozotocin-induced diabetes. Proc Natl Acad Sci U S A (1999) 5.81
Monensin interrupts the recycling of low density lipoprotein receptors in human fibroblasts. Cell (1981) 5.59
Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature (1999) 5.51
The LDL receptor gene: a mosaic of exons shared with different proteins. Science (1985) 5.49
Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans. Cell (1976) 5.33
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity. Proc Natl Acad Sci U S A (1974) 5.05
Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 4.98
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev (1998) 4.86
Activation of cholesterol synthesis in preference to fatty acid synthesis in liver and adipose tissue of transgenic mice overproducing sterol regulatory element-binding protein-2. J Clin Invest (1998) 4.78
Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J Clin Invest (1997) 4.75
Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol (1998) 4.71
Receptor-mediated control of cholesterol metabolism. Science (1976) 4.67
SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci U S A (1993) 4.61
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat (1992) 4.48
Independent regulation of sterol regulatory element-binding proteins 1 and 2 in hamster liver. Proc Natl Acad Sci U S A (1995) 4.40
Receptor-mediated endocytosis: insights from the lipoprotein receptor system. Proc Natl Acad Sci U S A (1979) 4.22
Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. Cell (1984) 4.21
Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygote. Proc Natl Acad Sci U S A (1976) 4.17