Apolipoprotein A1-Mangel

Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.

Protter AA et al. (1984) Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apo AI and apo CIII genes.

Rall SC et al. (1984) Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.

Law SW et al. (1984) Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11.

Cheung P et al. (1984) Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.

Karathanasis SK et al. (1983) Isolation and characterization of the human apolipoprotein A-I gene.

Schamaun O et al. (1983) Genetic studies of an apoA-I lipoprotein variant.

O'Donnell KA et al. (1983) Genetic evidence that the multiple apolipoprotein A-1 isoforms are encoded by a common structural gene.

Shoulders CC et al. (1983) Gene structure of human apolipoprotein A1.

Law SW et al. (1983) cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.

Karathanasis SK et al. (1983) An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis.

Weisgraber KH et al. (1983) Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.

Utermann G et al. (1984) Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase.

Breslow JL et al. (1982) Isolation and characterization of cDNA clones for human apolipoprotein A-I.

Botstein D et al. (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Law SW et al. (1984) Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA.

Rees A et al. (1983) DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.

Miller GJ et al. (1975) Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease.

Borecki IB et al. (1986) A major gene for primary hypoalphalipoproteinemia.

Buraczynska M et al. (1985) Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.

Gualandri V et al. (1985) AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.

Rall SC et al. (1986) Identification of homozygosity for a human apolipoprotein A-I variant.

Nichols WC et al. (1988) Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

Fager G et al. () Multivariate analyses of serum apolipoproteins and risk factors in relation to acute myocardial infarction.

Yamakawa-Kobayashi K et al. (1999) Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.

Hamidi Asl L et al. (1999) Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

Genschel J et al. (1998) Apolipoprotein A-I induced amyloidosis.

Huang W et al. (1998) A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.

Naganawa S et al. (1997) Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.

Dallinga-Thie GM et al. (1997) Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes.

Booth DR et al. (1996) Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

Plump AS et al. (1996) Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.

Ng DS et al. (1994) Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

Nakata K et al. (1993) Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

Franceschini G et al. (1980) A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.

Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.

Vergani C et al. (1981) Familial hypo-alpha-lipoproteinemia.

Utermann G et al. (1982) Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation.

Daniels SR et al. () Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.

Norum RA et al. (1982) Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease.

Glueck CJ et al. (1982) Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.

Utermann G et al. (1982) Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI.

Schaefer EJ et al. () Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.

Weisgraber KH et al. (1980) A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins.

Third JL et al. (1984) Primary and familial hypoalphalipoproteinemia.

Forte TM et al. (1984) Familial apolipoprotein AI and apolipoprotein CIII deficiency. Subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis.

Smith JD et al. (1992) Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro.

Ordovas JM et al. (1989) Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11.

Moll PP et al. (1989) Genetic determination of plasma apolipoprotein AI in a population-based sample.

Gustafson A et al. (1979) Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.

Nichols WC et al. (1990) A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

Ladias JA et al. (1990) Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant.

Brewer HB et al. (1978) The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins.

Arinami T et al. (1990) Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3----qter).

Kastelein JJ et al. (1990) The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family.

Matsunaga T et al. (1991) Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

Funke H et al. (1991) A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

Ajees AA et al. (2006) Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.

Bojanovski D et al. (1987) In vivo metabolism of proapolipoprotein A-I in Tangier disease.

Soutar AK et al. (1992) Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

Nissen SE et al. (2003) Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.

Zhang Y et al. (2003) Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.

Martinez LO et al. (2003) Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.

Sadaf A et al. (2002) Apolipoprotein AI promoter variant in blood pressure determination.

Shah PK et al. (2001) High-dose recombinant apolipoprotein A-I(milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein e-deficient mice. Potential implications for acute plaque stabilization.

Obici L et al. (1999) The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.

Hamidi Asl K et al. (1999) A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.

Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.

Strobl W et al. (1988) Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia.

Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

Schroeder WT et al. (1987) Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.

Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

Ginsberg HN et al. (1986) Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.

Moll PP et al. (1986) The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees.

Ordovas JM et al. (1986) Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.

Rees A et al. (1986) Haplotypes identified by DNA polymorphisms at the apolipoprotein A-1 and C-III loci and hypertriglyceridaemia. A study in a Japanese population.

Yui Y et al. (1988) Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I.

Haddad IA et al. (1986) Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.

Cohen T et al. (1986) DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I.

Frossard PM et al. (1986) ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene.

Kessling AM et al. (1985) A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals.

Rees A et al. (1985) Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

Antonarakis SE et al. (1988) DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.

Thompson EA et al. (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.

None (1988) Apolipoprotein genetic variation and human disease.

Stocks J et al. (1987) Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

Ferns GA et al. (1986) A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.

von Eckardstein A et al. (1989) Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

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