Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Combined familial hyperlipidemia with dysfunctional VLDL metabolism

Combined familial hyperlipidemia with dysfunctional VLDL clearance is a group of disorder in which mutations cause an impaired elimination of VLDL from plasma.

Systematic

Familial combined Hyperlipemia
Combined familial hyperlipidemia with VLDL overproduction
Combined familial hyperlipidemia with adipose tissue dysfunction
Combined familial hyperlipidemia with dysfunctional LDL clearance
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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21.

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22.

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35.

Kobayashi J et al. (1992) A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.

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36.

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38.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

Langlois S et al. (1989) A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.

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50.

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51.

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52.

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53.

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54.

Li SR et al. (1988) Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus.

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55.

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56.

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57.

Wion KL et al. (1987) Human lipoprotein lipase complementary DNA sequence.

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58.

Wilson DE et al. (1983) Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.

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59.

Levak-Frank S et al. (1995) Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.

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60.

Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

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61.

Lo JY et al. (1995) Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.

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62.

Ma Y et al. (1994) Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

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63.

Emi M et al. (1993) Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene.

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64.

Kobayashi J et al. (1993) A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.

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65.

Wood S et al. (1993) Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.

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66.

Pepe G et al. (1994) A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.

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67.

Haubenwallner S et al. (1993) A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).

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68.

Wilson DE et al. (1993) Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.

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69.

Miesenböck G et al. (1993) Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

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70.

Mattei MG et al. (1993) Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.

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71.

Ma Y et al. (1993) Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene.

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72.

Reymer PW et al. (1995) A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.

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73.

Buscà R et al. (1996) The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes.

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74.

Ginzinger DG et al. (1996) A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.

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75.

Weinstock PH et al. (1995) Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.

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76.

Benlian P et al. (1996) Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

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77.

Henderson HE et al. (1996) A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.

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78.

de Bruin TW et al. (1996) Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.

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79.

Wittrup HH et al. (1997) A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.

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80.

Mailly F et al. (1997) Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.

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81.

Fisher RM et al. (1997) Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.

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82.

Kastelein JJ et al. (1998) The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group.

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83.

Nickerson DA et al. (1998) DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.

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84.

Clark AG et al. (1998) Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.

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85.

Henderson HE et al. (1998) Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.

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86.

Wittrup HH et al. (1999) Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study.

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87.

Boer JM et al. (1999) Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.

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88.

Bertolini S et al. (2000) Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).

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89.

Hoffmann MM et al. (2000) Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.

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90.

Samuels ME et al. (2001) Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.

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91.

Gilbert B et al. () Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.

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92.

Clee SM et al. (2001) The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.

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93.

Yagyu H et al. (2003) Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.

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94.

Ling C et al. (2003) Identification of functional prolactin (PRL) receptor gene expression: PRL inhibits lipoprotein lipase activity in human white adipose tissue.

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95.

Yang W et al. (2004) Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

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96.

López-Miranda J et al. (2004) The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism.

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97.

Pruneta-Deloche V et al. (2005) Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.

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98.

Goodarzi MO et al. (2005) The 3' untranslated region of the lipoprotein lipase gene: haplotype structure and association with post-heparin plasma lipase activity.

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99.

Wittrup HH et al. (2006) Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study.

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100.

Zhao T et al. (2006) Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia.

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101.

Frikke-Schmidt R et al. (2007) Subsets of SNPs define rare genotype classes that predict ischemic heart disease.

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102.

Goodarzi MO et al. (2007) Haplotypes in the lipoprotein lipase gene influence fasting insulin and discovery of a new risk haplotype.

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103.

Kim MS et al. (2008) Protein kinase D is a key regulator of cardiomyocyte lipoprotein lipase secretion after diabetes.

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104.

Kim YJ et al. (2011) Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

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105.

Davies BS et al. (2012) Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.

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106.

Richardson K et al. (2013) Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site.

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107.

Utermann G et al. (1980) Genetics of the apolipoprotein E system in man.

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108.

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109.

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110.

Zannis VI et al. (1981) Human apolipoprotein E isoprotein subclasses are genetically determined.

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111.

St Clair D et al. (1995) Apolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers.

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112.

Bennett C et al. (1995) Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer's Disease but is not causative.

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113.

Masliah E et al. (1995) Neurodegeneration in the central nervous system of apoE-deficient mice.

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114.

Farrer LA et al. (1995) Allele epsilon 4 of apolipoprotein E shows a dose effect on age at onset of Pick disease.

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115.

Polvikoski T et al. (1995) Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein.

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116.

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122.

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123.

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124.

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125.

Osuntokun BO et al. (1995) Lack of an association between apolipoprotein E epsilon 4 and Alzheimer's disease in elderly Nigerians.

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126.

Kamboh MI et al. (1995) APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism.

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127.

Tabaton M et al. (1995) Apolipoprotein E epsilon 4 allele frequency is not increased in progressive supranuclear palsy.

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128.

Blennow K et al. (1994) Cerebrospinal fluid apolipoprotein E is reduced in Alzheimer's disease.

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129.

Royston MC et al. (1994) Apolipoprotein E epsilon 2 allele promotes longevity and protects patients with Down's syndrome from dementia.

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130.

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131.

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132.

Lippa CF et al. (1995) Apolipoprotein E genotype and Lewy body disease.

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133.

de Knijff P et al. (1994) Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels.

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134.

Bétard C et al. (1994) Apo E allele frequencies in Alzheimer's disease, Lewy body dementia, Alzheimer's disease with cerebrovascular disease and vascular dementia.

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135.

Linton MF et al. (1995) Prevention of atherosclerosis in apolipoprotein E-deficient mice by bone marrow transplantation.

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136.

Talbot C et al. (1994) Protection against Alzheimer's disease with apoE epsilon 2.

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137.

Corder EH et al. (1994) Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease.

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138.

Yoshizawa T et al. (1994) Dose-dependent association of apolipoprotein E allele epsilon 4 with late-onset, sporadic Alzheimer's disease.

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139.

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140.

Kawamata J et al. (1994) Apolipoprotein E polymorphism in Japanese patients with Alzheimer's disease or vascular dementia.

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141.

Amouyel P et al. (1994) The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. The French Research Group on Epidemiology of Human Spongiform Encephalopathies.

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142.

Nalbantoglu J et al. (1994) Predictive value of apolipoprotein E genotyping in Alzheimer's disease: results of an autopsy series and an analysis of several combined studies.

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143.

Marder K et al. (1994) The apolipoprotein epsilon 4 allele in Parkinson's disease with and without dementia.

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144.

Sanan DA et al. (1994) Apolipoprotein E associates with beta amyloid peptide of Alzheimer's disease to form novel monofibrils. Isoform apoE4 associates more efficiently than apoE3.

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145.

Frisoni GB et al. (1994) Apolipoprotein E epsilon 4 allele frequency in vascular dementia and Alzheimer's disease.

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146.

Borgaonkar DS et al. (1993) Linkage of late-onset Alzheimer's disease with apolipoprotein E type 4 on chromosome 19.

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147.

None (1993) Apolipoprotein E and Alzheimer's disease.

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148.

Poirier J et al. (1993) Apolipoprotein E polymorphism and Alzheimer's disease.

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149.

Saunders AM et al. (1993) Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases.

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150.

Corder EH et al. (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.

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151.

Saunders AM et al. (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.

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152.

Strittmatter WJ et al. (1993) Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease.

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153.

Strittmatter WJ et al. (1993) Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

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154.

van den Maagdenberg AM et al. (1993) Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.

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155.

Garlepp MJ et al. (1995) Apolipoprotein E epsilon 4 in inclusion body myositis.

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156.

Lannfelt L et al. (1995) Apolipoprotein epsilon 4 allele in Swedish twins and siblings with Alzheimer disease.

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157.

Reiman EM et al. (1996) Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E.

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158.

None (1996) Mouse models of atherosclerosis.

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159.

Tomimoto H et al. (1995) Immunohistochemical study of apolipoprotein E in human cerebrovascular white matter lesions.

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160.

Myers RH et al. (1996) Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study.

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161.

Poirier J et al. (1995) Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease.

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162.

Blesa R et al. (1996) High apolipoprotein E epsilon 4 allele frequency in age-related memory decline.

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163.

Tang MX et al. (1996) Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City.

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164.

Payami H et al. (1996) Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women.

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165.

Hyman BT et al. (1996) Apolipoprotein E epsilon4/4 in a neuropathologically normal very elderly individual.

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166.

Egensperger R et al. (1996) The apolipoprotein E epsilon 4 allele in Parkinson's disease with Alzheimer lesions.

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167.

Slooter AJ et al. (1996) APOE genotyping in differential diagnosis of Alzheimer's disease.

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168.

Olichney JM et al. (1996) The apolipoprotein E epsilon 4 allele is associated with increased neuritic plaques and cerebral amyloid angiopathy in Alzheimer's disease and Lewy body variant.

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169.

Kurz A et al. (1996) Apolipoprotein E epsilon 4 allele, cognitive decline, and deterioration of everyday performance in Alzheimer's disease.

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170.

Growdon JH et al. (1996) Apolipoprotein E genotype does not influence rates of cognitive decline in Alzheimer's disease.

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171.

Asada T et al. (1996) ApoE epsilon 4 allele and cognitive decline in patients with Alzheimer's disease.

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172.

Harrington CR et al. (1995) Apolipoprotein E type epsilon 4 allele frequency is increased in patients with schizophrenia.

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173.

Gerdes LU et al. (1996) The apolipoprotein E polymorphism in Greenland Inuit in its global perspective.

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174.

Bickeböller H et al. (1997) Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.

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175.

Payami H et al. (1997) A prospective study of cognitive health in the elderly (Oregon Brain Aging Study): effects of family history and apolipoprotein E genotype.

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176.

Oikawa S et al. (1997) Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.

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177.

Sullivan PM et al. (1997) Targeted replacement of the mouse apolipoprotein E gene with the common human APOE3 allele enhances diet-induced hypercholesterolemia and atherosclerosis.

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178.

Houlden H et al. (1998) ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.

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179.

Sullivan PM et al. (1998) Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2.

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180.

Meyer MR et al. (1998) APOE genotype predicts whennot whetherone is predisposed to develop Alzheimer disease.

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181.

Friedman G et al. (1999) Apolipoprotein E-epsilon4 genotype predicts a poor outcome in survivors of traumatic brain injury.

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182.

Kehoe P et al. (1999) Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.

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183.

Holtzman DM et al. (1999) Expression of human apolipoprotein E reduces amyloid-beta deposition in a mouse model of Alzheimer's disease.

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184.

Wiebusch H et al. (1999) Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.

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185.

Teasdale GM et al. (1997) Association of apolipoprotein E polymorphism with outcome after head injury.

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186.

Matsunaga A et al. (1999) A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy.

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