Hypercholesterolemia

Takada D et al. (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

Lindgren V et al. (1985) 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.

Cuchel M et al. (2007) Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia.

Takada D et al. (2003) Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.

Nevin NC et al. (1968) Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.

None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).

Hobbs HH et al. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

Frank SL et al. (1989) Linkage of the mouse LDL receptor gene on chromosome 9.

Miyake Y et al. (1989) Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.

Brink PA et al. (1987) Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

Steyn K et al. (1989) The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community.

Knight BL et al. (1989) Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject.

Hobbs HH et al. (1986) Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.

Komuro I et al. (1987) The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor.

Kotze MJ et al. (1987) Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

Horsthemke B et al. (1987) Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

Lehrman MA et al. (1985) Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.

Davis CG et al. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.

Brown MS et al. (1974) Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity.

Kingsley DM et al. (1984) Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity.

Torrington M et al. (1981) Familial hypercholesterolaemia and church affiliation.

Tolleshaug H et al. (1982) Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.

Francke U et al. (1984) Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease.

Allen JM et al. (1980) Cadiovascular complications of homozygous familial hypercholesterolaemia.

Seftel HC et al. (1980) A host of hypercholesterolaemic homozygotes in South Africa.

Grossman M et al. (1994) Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia.

Feussner G et al. (1996) Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia.

Vergopoulos A et al. () A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.

Defesche JC et al. (1998) Molecular epidemiology of familial hypercholesterolaemia.

Ekström U et al. (1999) An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

Knoblauch H et al. (2000) A cholesterol-lowering gene maps to chromosome 13q.

Durst R et al. (2001) Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

Vergotine J et al. (2001) Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.

None (1964) THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.

Sato K et al. (2004) Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.

Bourbon M et al. (2007) A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

Defesche JC et al. (2008) Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

Kulseth MA et al. (2010) Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.

Knouff C et al. (2001) Doubling expression of the low density lipoprotein receptor by truncation of the 3'-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform.

Marsh L et al. (2000) Treatment of early Parkinson's disease.

Brown MS et al. (1975) Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations.

Umans-Eckenhausen MA et al. (2001) Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands.

Hasty AH et al. (2001) Severe hypercholesterolemia, hypertriglyceridemia, and atherosclerosis in mice lacking both leptin and the low density lipoprotein receptor.

Brorholt-Petersen JU et al. (2001) LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.

Chaves FJ et al. (2001) Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.

IJzerman RG et al. (2001) Evidence for genetic factors explaining the association between birth weight and low-density lipoprotein cholesterol and possible intrauterine factors influencing the association between birth weight and high-density lipoprotein cholesterol: analysis in twins.

Buja LM et al. (1979) Cellular pathology of homozygous familial hypercholesterolemia.

Deramo VA et al. (2003) Ischemic optic neuropathy as the first manifestation of elevated cholesterol levels in young patients.

Hobbs HH et al. (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

EPSTEIN FH et al. (1959) Familial hypercholesterolemia, xanthomatosis and coronary heart disease.

Wilson JM et al. (1992) Ex vivo gene therapy of familial hypercholesterolemia.

Beekman M et al. (2003) Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.

Hedman M et al. (2005) Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study.

Newson AJ et al. (2005) Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

None (2005) Cascade screening: whose information is it anyway?

Goldstein JL et al. (1975) Familial hypercholesterolemia. A genetic regulatory defect in cholesterol metabolism.

Chowdhury JR et al. (1991) Long-term improvement of hypercholesterolemia after ex vivo gene therapy in LDLR-deficient rabbits.

Brown MS et al. (1976) Receptor-mediated control of cholesterol metabolism.

None (1976) Inheritance of xanthomatosis and hyper-beta-lipoproteinaemia. A study of 7 large kindreds.

García-Otín AL et al. (2007) Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

Varret M et al. (2008) Genetic heterogeneity of autosomal dominant hypercholesterolemia.

Brown MS et al. (1976) Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein.

Goldstein JL et al. (1977) Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic.

Bilheimer DW et al. (1978) Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia.

Goldstein JL et al. (1978) Familial hypercholesterolemia: pathogenesis of a receptor disease.

Berger GM et al. (1978) Continuous flow plasma exchange in the treatment of homozygous familial hypercholesterolemia.

None (1979) A major locus for hyper-beta-lipoproteinemia with xanthomatosis.

Goldstein JL et al. (1979) The LDL receptor locus and the genetics of familial hypercholesterolemia.

Hummel M et al. (1990) Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency.

Goldstein JL et al. (1975) Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

Leitersdorf E et al. (1989) Polymorphic DNA haplotypes at the LDL receptor locus.

Schuster H et al. (1989) Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia.

Edwards JA et al. (1978) Hyperlipidemia in a Lebanese community: difficulties in definition, diagnosis and decision on when to treat.

Humphries SE et al. (1985) A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis.

Leppert MF et al. (1986) A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.

Armston AE et al. (1988) Diagnosis of familial hypercholesterolaemia using DNA probes for the low-density lipoprotein (LDL) receptor gene.

Houlston R et al. (1988) Lipoprotein (a) and coronary heart disease in familial hypercholesterolaemia.

Yamamoto T et al. (1986) Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit.

Scanu AM et al. (1988) Genetically determined hypercholesterolemia in a rhesus monkey family due to a deficiency of the LDL receptor.

Hoeg JM et al. (1987) 3-Hydroxy-3-methylglutaryl--coenzyme A reductase inhibitors in the treatment of hypercholesterolemia.

Hofmann SL et al. (1988) Overexpression of low density lipoprotein (LDL) receptor eliminates LDL from plasma in transgenic mice.

Funahashi T et al. (1988) Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.

Kita T et al. (1987) Probucol prevents the progression of atherosclerosis in Watanabe heritable hyperlipidemic rabbit, an animal model for familial hypercholesterolemia.

Brown MS et al. (1986) A receptor-mediated pathway for cholesterol homeostasis.

Goldstein JL et al. (1987) Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis.

Cuthbert JA et al. (1986) Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes.

Levy RA et al. (1986) Diversity in expression of heterozygous familial hypercholesterolemia. Characterization of a unique kindred.

Mabuchi H et al. (1986) Coronary ectasia in a homozygous patient with familial hypercholesterolemia.

Nora JJ et al. (1985) Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes.

Bilheimer DW et al. (1985) Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.

Cai HJ et al. (1985) Homozygous familial hypercholesterolemic patients in China.

Ott J et al. (1974) Linkage studies in a large kindred with familial hypercholesterolemia.

Goldstein JL et al. (1973) Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol.

Kwiterovich PO et al. (1974) Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood.

Goldstein JL et al. (1975) Hyperlipidemia in coronary heart disease: a biochemical genetic approach.

Schrott HG et al. (1972) Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism.

Fredrickson DS et al. (1967) Fat transport in lipoproteins--an integrated approach to mechanisms and disorders.

None (1969) Plasma lipoproteins: micellar models and mutants.

Slack J et al. (1968) Hyperlipidaemic xanthomatosis. I. Increased risk of death from ischaemic heart disease in first degree relatives of 53 patients with essential hyperlipidaemia and xanthomatosis.

Hould F et al. (1969) Essential familial hypercholesterolemia with xanthomatosis.

None (1983) Portacaval shunt in familial hypercholesterolaemia.

Starzl TE et al. (1984) Heart-liver transplantation in a patient with familial hypercholesterolaemia.

Brown MS et al. (1981) Regulation of plasma cholesterol by lipoprotein receptors.

Miyake Y et al. (1981) Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein.

Goldstein B et al. (1981) Interactions of low density lipoprotein receptors with coated pits on human fibroblasts: estimate of the forward rate constant and comparison with the diffusion limit.

Magnus P et al. (1981) Genetics of the low density lipoprotein receptor: II. Genetic control of variation in cell membrane low density lipoprotein receptor activity in cultured fibroblasts.

Maartmann-Moe K et al. (1981) Genetics of the low density lipoprotein receptor: III. Evidence for multiple normal alleles at the low density lipoprotein receptor locus.

Maartmann-Moe K et al. (1981) Genetics of the low density lipoprotein receptor: I. Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without familial hypercholesterolemia.

Harders-Spengel K et al. (1982) Difference in saturable binding of low density lipoprotein to liver membranes from normocholesterolemic subjects and patients with heterozygous familial hypercholesterolemia.

Tolleshaug H et al. (1983) The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor.

Goldstein JL et al. (1983) Defective lipoprotein receptors and atherosclerosis. Lessons from an animal counterpart of familial hypercholesterolemia.

McNamara DJ et al. (1983) Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes.

Bilheimer DW et al. (1983) Mevinolin and colestipol stimulate receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes.

Hornick CA et al. (1983) Secretion of lipoproteins from the liver of normal and Watanabe heritable hyperlipidemic rabbits.

Mabuchi H et al. (1983) Reduction of serum cholesterol in heterozygous patients with familial hypercholesterolemia. Additive effects of compactin and cholestyramine.

Mabuchi H et al. (1978) Homozygous familial hypercholesterolemia in Japan.

Rose V et al. (1982) Familial hypercholesterolemia: report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling.

Mabuchi H et al. (1981) Effect of an inhibitor of 3-hydroxy-3-methyglutaryl coenzyme A reductase on serum lipoproteins and ubiquinone-10-levels in patients with familial hypercholesterolemia.

King ME et al. (1980) Plasma-exchange therapy of homozygous familial hypercholesterolemia.

Berg K et al. (1978) Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed.

Sass C et al. (1995) Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia.

Tikkanen MJ et al. (1978) Natural oestrogen as an effective treatment for type-II hyperlipoproteinaemia in postmenopausal women.

Ishibashi S et al. (1994) Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice.

Betteridge DJ et al. () Compactin inhibits cholesterol synthesis in lymphocytes and intestinal mucosa from patients with familial hypercholesterolaemia.

Deckelbaum RJ et al. (1977) Failure of complete bile diversion and oral bile acid therapy in the treatment of homozygous familial hypercholesterolemia.

Ishibashi S et al. (1993) Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery.

Tonstad S et al. (1996) Efficacy and safety of cholestyramine therapy in peripubertal and prepubertal children with familial hypercholesterolemia.

Summers RM et al. (1998) Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia.

Berg K et al. (1976) Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism.

Elston RC et al. (1976) Probable linkage between essential familial hypercholesterolemia and third complement component (C3).

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