Published in J Biol Chem on March 05, 1987
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
Use of simian virus 40 replication to amplify Epstein-Barr virus shuttle vectors in human cells. J Virol (1988) 2.43
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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet (1998) 2.09
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Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A (1989) 1.61
Structures of spontaneous deletions in Caenorhabditis elegans. Mol Cell Biol (1988) 1.61
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci U S A (1990) 1.61
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J (1991) 1.53
Expression cloning and regulation of steroid 5 alpha-reductase, an enzyme essential for male sexual differentiation. J Biol Chem (1989) 1.52
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
A hotspot for novel amplification joints in a mosaic of Alu-like repeats and palindromic A + T-rich DNA. EMBO J (1987) 1.47
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. J Clin Invest (1988) 1.44
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc Natl Acad Sci U S A (1989) 1.35
Newly arisen DNA repeats in primate phylogeny. Proc Natl Acad Sci U S A (1989) 1.33
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Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
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A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. J Clin Invest (1997) 1.30
Ubiquitous mammalian-wide interspersed repeats (MIRs) are molecular fossils from the mesozoic era. Nucleic Acids Res (1995) 1.29
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet (2012) 1.29
Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79. Proc Natl Acad Sci U S A (1988) 1.27
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Identification of a novel major histocompatibility complex class II-restricted tumor antigen resulting from a chromosomal rearrangement recognized by CD4(+) T cells. J Exp Med (1999) 1.19
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet (2014) 1.14
Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins. Proc Natl Acad Sci U S A (1988) 1.10
Feed-forward control of prostate growth: dihydrotestosterone induces expression of its own biosynthetic enzyme, steroid 5 alpha-reductase. Proc Natl Acad Sci U S A (1991) 1.09
Chicken repeat 1 elements contain a pol-like open reading frame and belong to the non-long terminal repeat class of retrotransposons. Proc Natl Acad Sci U S A (1993) 1.09
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest (1988) 1.08
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med (2011) 1.08
A sequence-based integrated map of chromosome 22. Genome Res (2001) 1.04
Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients. Am J Hum Genet (1991) 1.03
Homozygous hereditary C3 deficiency due to a partial gene deletion. Proc Natl Acad Sci U S A (1992) 1.00
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
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest (1990) 0.99
Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat (2010) 0.95
The current source of human Alu retroposons is a conserved gene shared with Old World monkey. Proc Natl Acad Sci U S A (1989) 0.92
Characterization of the AD7C-NTP cDNA expression in Alzheimer's disease and measurement of a 41-kD protein in cerebrospinal fluid. J Clin Invest (1997) 0.89
Synthesis of a truncated Mr 46,000 mannose 6-phosphate receptor that is secreted and retains ligand binding. Biochem J (1989) 0.89
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. J Clin Invest (1995) 0.85
Characterization of the human properdin gene. Biochem J (1992) 0.82
Elements which stimulate gene amplification in mammalian cells: role of recombinogenic sequences/structures and transcriptional activation. Nucleic Acids Res (1991) 0.81
A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype. Am J Hum Genet (1996) 0.81
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. PLoS Genet (2015) 0.79
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Detection of recombinant products during PCR amplification of DNA containing direct alu repeats. Dokl Biochem Biophys (2003) 0.75
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The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54
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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
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Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a. J Clin Invest (1996) 7.93
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A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood. Proc Natl Acad Sci U S A (1999) 7.48
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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
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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
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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
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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
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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