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1984 1
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Page 1
Primary and familial hypoalphalipoproteinemia.
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ. Third JL, et al. Metabolism. 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. Metabolism. 1984. PMID: 6694557
Our specific aim was to assess within-family clustering of high-density lipoprotein cholesterol (HDLC) levels in kindreds identified through probands with primary hypoalphalipoproteinemia, and to determine whether, and to what degree, familial aggregation of HDLC less than or equ …
Our specific aim was to assess within-family clustering of high-density lipoprotein cholesterol (HDLC) levels in kindreds identified through …
Familial aggregation of lipids and lipoproteins in families ascertained through random and nonrandom probands in the Minnesota Lipid Research Clinic Family Study.
Rice T, Vogler GP, Laskarzewski PM, Perry TS, Rao DC. Rice T, et al. Hum Biol. 1991 Aug;63(4):419-39. Hum Biol. 1991. PMID: 1889794
However, for TG and HDL the random and hyperlipidemic samples are significantly heterogeneous. This heterogeneity would be observed if familial hypertriglyceridemia and/or familial hypoalphalipoproteinemia segregates predominantly in the hyperlipidemic rather …
However, for TG and HDL the random and hyperlipidemic samples are significantly heterogeneous. This heterogeneity would be observed i …
Familial hypoalphalipoproteinemia in premature coronary artery disease.
Genest J Jr, Bard JM, Fruchart JC, Ordovas JM, Schaefer EJ. Genest J Jr, et al. Arterioscler Thromb. 1993 Dec;13(12):1728-37. doi: 10.1161/01.atv.13.12.1728. Arterioscler Thromb. 1993. PMID: 8241092
In the remaining 15 families, no lipoprotein abnormalities were observed in first-degree relatives. We measured apolipoprotein (apo) A-I, B, C-III, and E levels as well as lipoprotein particle (Lp) levels of LpA-I (containing apoA-I only), LpA-I:A-II (containing both apoA- …
In the remaining 15 families, no lipoprotein abnormalities were observed in first-degree relatives. We measured apolipoprotein (apo) …
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.
Kort EN, Ballinger DG, Ding W, Hunt SC, Bowen BR, Abkevich V, Bulka K, Campbell B, Capener C, Gutin A, Harshman K, McDermott M, Thorne T, Wang H, Wardell B, Wong J, Hopkins PN, Skolnick M, Samuels M. Kort EN, et al. Am J Hum Genet. 2000 Jun;66(6):1845-56. doi: 10.1086/302945. Epub 2000 Apr 17. Am J Hum Genet. 2000. PMID: 10775531 Free PMC article.
To define a localization region, model optimization was performed using the heterogeneity, multipoint LOD score (mpHLOD). This linkage defines a region on 11q23.3 that is approximately 10 cM distal to-and apparently distinct from-the ApoAI/CIII/AIV gene cluster and thus re …
To define a localization region, model optimization was performed using the heterogeneity, multipoint LOD score (mpHLOD). This linkag …
Coronary artery disease, lipid disorders and genetic polymorphisms.
Ordovas JM, Schaefer EJ. Ordovas JM, et al. Ann Biol Clin (Paris). 1988;46(1):24-9. Ann Biol Clin (Paris). 1988. PMID: 2898907 Review.
Apolipoprotein A-I (Apo A-I) is the major protein component of HDL, and it has been proposed that the levels of this protein are a better predictor of risk of CAD than the level of cholesterol in HDL. The human Apo A-I gene has been characterized, and it has been found to …
Apolipoprotein A-I (Apo A-I) is the major protein component of HDL, and it has been proposed that the levels of this protein are a better …
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalù AB, Cantafora A, Calandra S, Bertolini S. Pisciotta L, et al. Atherosclerosis. 2004 Feb;172(2):309-20. doi: 10.1016/j.atherosclerosis.2003.11.009. Atherosclerosis. 2004. PMID: 15019541
Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutation …
Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia …
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, Chan E, Mattice M, Legendre A, Kastelein JJ, Hayden MR. Tietjen I, et al. Biochim Biophys Acta. 2012 Mar;1821(3):416-24. doi: 10.1016/j.bbalip.2011.08.006. Epub 2011 Aug 19. Biochim Biophys Acta. 2012. PMID: 21875686
Furthermore, only mutation carriers with HDLc <5th percentile had elevated risk of CAD (odds ratio (OR)=2.26 for 34 ABCA1 mutation carriers vs. 149 total first-degree relative controls, p=0.05; OR=2.50 for 26 APOA1 mutation carriers, p=0.04; OR=3.44 for 38 LCAT mutation carrie …
Furthermore, only mutation carriers with HDLc <5th percentile had elevated risk of CAD (odds ratio (OR)=2.26 for 34 ABCA1 mutation carrie …
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Singaraja RR, Visscher H, James ER, Chroni A, Coutinho JM, Brunham LR, Kang MH, Zannis VI, Chimini G, Hayden MR. Singaraja RR, et al. Circ Res. 2006 Aug 18;99(4):389-97. doi: 10.1161/01.RES.0000237920.70451.ad. Epub 2006 Jul 27. Circ Res. 2006. PMID: 16873719
Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels. ...To determine whether there is a correlation between the mutations …
Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resultin …
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.
Clee SM, Kastelein JJ, van Dam M, Marcil M, Roomp K, Zwarts KY, Collins JA, Roelants R, Tamasawa N, Stulc T, Suda T, Ceska R, Boucher B, Rondeau C, DeSouich C, Brooks-Wilson A, Molhuizen HO, Frohlich J, Genest J Jr, Hayden MR. Clee SM, et al. J Clin Invest. 2000 Nov;106(10):1263-70. doi: 10.1172/JCI10727. J Clin Invest. 2000. PMID: 11086027 Free PMC article.
We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux. ...Levels of cholesterol effl …
We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inher …
A case report: familial hypoalphalipoproteinemia.
Tamugur E, Oren B, Büyükgebiz A. Tamugur E, et al. J Pediatr Endocrinol. 1993 Apr-Jun;6(2):185-90. J Pediatr Endocrinol. 1993. PMID: 8348223
In the histopathological investigation of this mass lesion, symptoms of complicated atherosclerosis, such as mural thrombus and diffused calcification, were observed. Lipid investigations were performed in this patient whose total cholesterol and triglyceride levels were i …
In the histopathological investigation of this mass lesion, symptoms of complicated atherosclerosis, such as mural thrombus and diffused cal …
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