-
1
-
-
4444382796
-
Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): Case-control study
-
Yusuf, S., S. Hawken, S. Ounpuu, T. Dans, A. Avezum, F. Lanas, M. McQueen, A. Budaj, P. Pais, J. Varigos, et al. 2004. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet. 364: 937-952.
-
(2004)
Lancet.
, vol.364
, pp. 937-952
-
-
Yusuf, S.1
Hawken, S.2
Ounpuu, S.3
Dans, T.4
Avezum, A.5
Lanas, F.6
McQueen, M.7
Budaj, A.8
Pais, P.9
Varigos, J.10
-
2
-
-
84885022632
-
Levels and changes of HDL cholesterol and apolipoprotein A-I in relation to risk of cardiovascular events among statin-treated patients: A meta-analysis
-
Boekholdt, S. M., B. J. Arsenault, G. K. Hovingh, S. Mora, T. R. Pedersen, J. C. Larosa, K. M. Welch, P. Amarenco, D. A. Demicco, A. M. Tonkin, et al. 2013. Levels and changes of HDL cholesterol and apolipoprotein A-I in relation to risk of cardiovascular events among statin-treated patients: a meta-analysis. Circulation. 128: 1504-1512.
-
(2013)
Circulation.
, vol.128
, pp. 1504-1512
-
-
Boekholdt, S.M.1
Arsenault, B.J.2
Hovingh, G.K.3
Mora, S.4
Pedersen, T.R.5
LaRosa, J.C.6
Welch, K.M.7
Amarenco, P.8
Demicco, D.A.9
Tonkin, A.M.10
-
3
-
-
34748887666
-
HDL cholesterol, very low levels of LDL cholesterol, and cardiovascular events
-
Barter, P., A. M. Gotto, J. C. LaRosa, J. Maroni, M. Szarek, S. M. Grundy, J. J. Kastelein, V. Bittner, and J. C. Fruchart ; Treating to New Targets Investigators. 2007. HDL cholesterol, very low levels of LDL cholesterol, and cardiovascular events. N. Engl. J. Med. 357: 1301-1310.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 1301-1310
-
-
Barter, P.1
Gotto, A.M.2
LaRosa, J.C.3
Maroni, J.4
Szarek, M.5
Grundy, S.M.6
Kastelein, J.J.7
Bittner, V.8
Fruchart, J.C.9
-
4
-
-
35348945773
-
Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins
-
Goode, E. L., S. S. Cherny, J. C. Christian, G. P. Jarvik, and M. de Andrade. 2007. Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res. Hum. Genet. 10: 703-711.
-
(2007)
Twin Res. Hum. Genet.
, vol.10
, pp. 703-711
-
-
Goode, E.L.1
Cherny, S.S.2
Christian, J.C.3
Jarvik, G.P.4
De Andrade, M.5
-
5
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen, J. C., R. S. Kiss, A. Pertsemlidis, Y. L. Marcel, R. McPherson, and H. H. Hobbs. 2004. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 305: 869-872.
-
(2004)
Science.
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
6
-
-
84857628622
-
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT
-
Tietjen, I., G. K. Hovingh, R. Singaraja, C. Radomski, J. McEwen, E. Chan, M. Mattice, A. Legendre, J. J. Kastelein, and M. R. Hayden. 2012. Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. Biochim. Biophys. Acta. 1821: 416-424.
-
(2012)
Biochim. Biophys. Acta.
, vol.1821
, pp. 416-424
-
-
Tietjen, I.1
Hovingh, G.K.2
Singaraja, R.3
Radomski, C.4
McEwen, J.5
Chan, E.6
Mattice, M.7
Legendre, A.8
Kastelein, J.J.9
Hayden, M.R.10
-
7
-
-
44649140474
-
Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease
-
Frikke-Schmidt, R., B. G. Nordestgaard, M. C. Stene, A. A. Sethi, A. T. Remaley, P. Schnohr, P. Grande, and A. Tybjaerg-Hansen. 2008. Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease. JAMA. 299: 2524-2532.
-
(2008)
JAMA
, vol.299
, pp. 2524-2532
-
-
Frikke-Schmidt, R.1
Nordestgaard, B.G.2
Stene, M.C.3
Sethi, A.A.4
Remaley, A.T.5
Schnohr, P.6
Grande, P.7
Tybjaerg-Hansen, A.8
-
8
-
-
34247395573
-
Genetic etiology of isolated low HDL syndrome: Incidence and heterogeneity of efflux defects
-
Kiss, R. S., N. Kavaslar, K. Okuhira, M. W. Freeman, S. Walter, R. W. Milne, R. McPherson, and Y. L. Marcel. 2007. Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects. Arterioscler. Thromb. Vasc. Biol. 27: 1139-1145.
-
(2007)
Arterioscler. Thromb. Vasc. Biol.
, vol.27
, pp. 1139-1145
-
-
Kiss, R.S.1
Kavaslar, N.2
Okuhira, K.3
Freeman, M.W.4
Walter, S.5
Milne, R.W.6
McPherson, R.7
Marcel, Y.L.8
-
9
-
-
77957749592
-
Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol
-
Berge, K. E., and T. P. Leren. 2010. Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol. Clin. Chim. Acta. 411: 2019-2023.
-
(2010)
Clin. Chim. Acta.
, vol.411
, pp. 2019-2023
-
-
Berge, K.E.1
Leren, T.P.2
-
10
-
-
78649757011
-
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol
-
Candini, C., A. W. Schimmel, J. Peter, A. E. Bochem, A. G. Holleboom, M. Vergeer, R. P. Dullaart, G. M. Dallinga-Thie, G. K. Hovingh, K. L. Khoo, et al. 2010. Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol. Atherosclerosis. 213: 492-498.
-
(2010)
Atherosclerosis.
, vol.213
, pp. 492-498
-
-
Candini, C.1
Schimmel, A.W.2
Peter, J.3
Bochem, A.E.4
Holleboom, A.G.5
Vergeer, M.6
Dullaart, R.P.7
Dallinga-Thie, G.M.8
Hovingh, G.K.9
Khoo, K.L.10
-
11
-
-
33748039093
-
Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency
-
Alrasadi, K., I. L. Ruel, M. Marcil, and J. Genest. 2006. Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency. Atherosclerosis. 188: 281-291.
-
(2006)
Atherosclerosis.
, vol.188
, pp. 281-291
-
-
Alrasadi, K.1
Ruel, I.L.2
Marcil, M.3
Genest, J.4
-
12
-
-
84879088930
-
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels
-
Motazacker, M. M., J. Peter, M. Treskes, C. C. Shoulders, J. A. Kuivenhoven, and G. K. Hovingh. 2013. Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels. Arte-rioscler. Thromb. Vasc. Biol. 33: 1521-1528.
-
(2013)
Arte-rioscler. Thromb. Vasc. Biol.
, vol.33
, pp. 1521-1528
-
-
Motazacker, M.M.1
Peter, J.2
Treskes, M.3
Shoulders, C.C.4
Kuivenhoven, J.A.5
Hovingh, G.K.6
-
13
-
-
84875217898
-
Disease-targeted sequencing: A cornerstone in the clinic
-
Rehm, H. L. 2013. Disease-targeted sequencing: a cornerstone in the clinic. Nat. Rev. Genet. 14: 295-300.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 295-300
-
-
Rehm, H.L.1
-
14
-
-
0019080053
-
The epidemiology of plasma high-density lipoprotein cholesterol levels. the Lipid Research Clinics Program Prevalence Study. Summary
-
Heiss, G., N. J. Johnson, S. Reiland, C. E. Davis, and H. A. Tyroler. 1980. The epidemiology of plasma high-density lipoprotein cholesterol levels. The Lipid Research Clinics Program Prevalence Study. Summary. Circulation. 62: IV116-IV136.
-
(1980)
Circulation.
, vol.62
, pp. IV116-IV136
-
-
Heiss, G.1
Johnson, N.J.2
Reiland, S.3
Davis, C.E.4
Tyroler, H.A.5
-
15
-
-
84946555141
-
Clinical, biochemical, and molecular characterization of novel mutations in ABCA1 in families with Tangier disease
-
Brunham, L. R., M. H. Kang, C. Van Karnebeek, S. N. Sadananda, J. A. Collins, L. H. Zhang, B. Sayson, F. Miao, S. Stockler, J. Frohlich, et al. 2015. Clinical, biochemical, and molecular characterization of novel mutations in ABCA1 in families with Tangier disease. JIMD Rep. 18: 51-62.
-
(2015)
JIMD Rep.
, vol.18
, pp. 51-62
-
-
Brunham, L.R.1
Kang, M.H.2
Van Karnebeek, C.3
Sadananda, S.N.4
Collins, J.A.5
Zhang, L.H.6
Sayson, B.7
Miao, F.8
Stockler, S.9
Frohlich, J.10
-
16
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson, P. D., M. Mort, E. V. Ball, K. Howells, A. D. Phillips, N. S. Thomas, and D. N. Cooper. 2009. The Human Gene Mutation Database: 2008 update. Genome Med. 1: 13.
-
(2009)
Genome Med.
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
Cooper, D.N.7
-
17
-
-
84878575066
-
Low prevalence of type 2 diabetes mellitus among patients with high levels of high-density lipo-protein cholesterol
-
Juren, A. J., G. Sarwal, A. Al-Sarraf, M. Vrablik, D. Chan, K. H. Humphries, and J. J. Frohlich. 2013. Low prevalence of type 2 diabetes mellitus among patients with high levels of high-density lipo-protein cholesterol. J. Clin. Lipidol. 7: 194-198.
-
(2013)
J. Clin. Lipidol.
, vol.7
, pp. 194-198
-
-
Juren, A.J.1
Sarwal, G.2
Al-Sarraf, A.3
Vrablik, M.4
Chan, D.5
Humphries, K.H.6
Frohlich, J.J.7
-
18
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards, C. S., S. Bale, D. B. Bellissimo, S. Das, W. W. Grody, M. R. Hegde, E. Lyon, and B. E. Ward ; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. 2008. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet. Med. 10: 294-300.
-
(2008)
Genet. Med.
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
19
-
-
3242712233
-
Screening for functional sequence variations and mutations in ABCA1
-
Probst, M. C., H. Thumann, C. Aslanidis, T. Langmann, C. Buechler, W. Patsch, F. E. Baralle, G. M. Dallinga-Thie, J. Geisel, C. Keller, et al. 2004. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis. 175: 269-279.
-
(2004)
Atherosclerosis.
, vol.175
, pp. 269-279
-
-
Probst, M.C.1
Thumann, H.2
Aslanidis, C.3
Langmann, T.4
Buechler, C.5
Patsch, W.6
Baralle, F.E.7
Dallinga-Thie, G.M.8
Geisel, J.9
Keller, C.10
-
20
-
-
84855290539
-
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
-
Khetarpal, S. A., A. C. Edmondson, A. Raghavan, H. Neeli, W. Jin, K. O. Badellino, S. Demissie, A. K. Manning, S. L. DerOhannessian, M. L. Wolfe, et al. 2011. Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol. PLoS Genet. 7: e1002393.
-
(2011)
PLoS Genet.
, vol.7
, pp. e1002393
-
-
Khetarpal, S.A.1
Edmondson, A.C.2
Raghavan, A.3
Neeli, H.4
Jin, W.5
Badellino, K.O.6
Demissie, S.7
Manning, A.K.8
DerOhannessian, S.L.9
Wolfe, M.L.10
-
21
-
-
79955597630
-
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans
-
Brunham, L. R., I. Tietjen, A. E. Bochem, R. R. Singaraja, P. L. Franchini, C. Radomski, M. Mattice, A. Legendre, G. K. Hovingh, J. J. Kastelein, et al. 2011. Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. Clin. Genet. 79: 575-581.
-
(2011)
Clin. Genet.
, vol.79
, pp. 575-581
-
-
Brunham, L.R.1
Tietjen, I.2
Bochem, A.E.3
Singaraja, R.R.4
Franchini, P.L.5
Radomski, C.6
Mattice, M.7
Legendre, A.8
Hovingh, G.K.9
Kastelein, J.J.10
-
22
-
-
33747399806
-
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro
-
Singaraja, R. R., H. Visscher, E. R. James, A. Chroni, J. M. Coutinho, L. R. Brunham, M. H. Kang, V. I. Zannis, G. Chimini, and M. R. Hayden. 2006. Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. Circ. Res. 99: 389-397.
-
(2006)
Circ. Res.
, vol.99
, pp. 389-397
-
-
Singaraja, R.R.1
Visscher, H.2
James, E.R.3
Chroni, A.4
Coutinho, J.M.5
Brunham, L.R.6
Kang, M.H.7
Zannis, V.I.8
Chimini, G.9
Hayden, M.R.10
-
23
-
-
84856786437
-
LCAT, HDL cholesterol and ischemic cardiovascular disease: A Mendelian randomization study of HDL cholesterol in 54, 500 individuals
-
Haase, C. L., A. Tybjaerg-Hansen, A. A. Qayyum, J. Schou, B. G. Nordestgaard, and R. Frikke-Schmidt. 2012. LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54, 500 individuals. J. Clin. Endocrinol. Metab. 97: E248-E256.
-
(2012)
J. Clin. Endocrinol. Metab.
, vol.97
, pp. E248-E256
-
-
Haase, C.L.1
Tybjaerg-Hansen, A.2
Qayyum, A.A.3
Schou, J.4
Nordestgaard, B.G.5
Frikke-Schmidt, R.6
-
24
-
-
79953312249
-
Niemann-Pick Type C disease: Characterizing lipid levels in patients with variant lysosomal cholesterol storage
-
Tängemo, C., D. Weber, S. Theiss, E. Mengel, and H. Runz. 2011. Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J. Lipid Res. 52: 813-825.
-
(2011)
J. Lipid Res.
, vol.52
, pp. 813-825
-
-
Tängemo, C.1
Weber, D.2
Theiss, S.3
Mengel, E.4
Runz, H.5
-
25
-
-
77949537364
-
The National Niemann-Pick Type C1 Disease Database: Correlation of lipid profiles, mutations, and biochemical phenotypes
-
Garver, W. S., D. Jelinek, F. J. Meaney, J. Flynn, K. M. Pettit, G. Shepherd, R. A. Heidenreich, C. M. Vockley, G. Castro, and G. A. Francis. 2010. The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J. Lipid Res. 51: 406-415.
-
(2010)
J. Lipid Res.
, vol.51
, pp. 406-415
-
-
Garver, W.S.1
Jelinek, D.2
Meaney, F.J.3
Flynn, J.4
Pettit, K.M.5
Shepherd, G.6
Heidenreich, R.A.7
Vockley, C.M.8
Castro, G.9
Francis, G.A.10
-
26
-
-
0041825673
-
Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease
-
Choi, H. Y., B. Karten, T. Chan, J. E. Vance, W. L. Greer, R. A. Heidenreich, W. S. Garver, and G. A. Francis. 2003. Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J. Biol. Chem. 278: 32569-32577.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 32569-32577
-
-
Choi, H.Y.1
Karten, B.2
Chan, T.3
Vance, J.E.4
Greer, W.L.5
Heidenreich, R.A.6
Garver, W.S.7
Francis, G.A.8
-
27
-
-
84897417989
-
LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias
-
Johansen, C. T., J. B. Dube, M. N. Loyzer, A. Macdonald, D. E. Carter, A. D. McIntyre, H. Cao, J. Wang, J. F. Robinson, and R. A. Hegele. 2014. LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias. J. Lipid Res. 55: 765-772.
-
(2014)
J. Lipid Res.
, vol.55
, pp. 765-772
-
-
Johansen, C.T.1
Dube, J.B.2
Loyzer, M.N.3
MacDonald, A.4
Carter, D.E.5
McIntyre, A.D.6
Cao, H.7
Wang, J.8
Robinson, J.F.9
Hegele, R.A.10
-
28
-
-
77950174523
-
Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal
-
Huijgen, R., I. Kindt, S. B. Verhoeven, E. J. Sijbrands, M. N. Vissers, J. J. Kastelein, and B. A. Hutten. 2010. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS One. 5: e9220.
-
(2010)
PLoS One.
, vol.5
, pp. e9220
-
-
Huijgen, R.1
Kindt, I.2
Verhoeven, S.B.3
Sijbrands, E.J.4
Vissers, M.N.5
Kastelein, J.J.6
Hutten, B.A.7
-
29
-
-
0037434078
-
Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia
-
Umans-Eckenhausen, M. A., J. C. Defesche, M. J. van Dam, and J. J. Kastelein. 2003. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch. Intern. Med. 163: 65-68.
-
(2003)
Arch. Intern. Med.
, vol.163
, pp. 65-68
-
-
Umans-Eckenhausen, M.A.1
Defesche, J.C.2
Van Dam, M.J.3
Kastelein, J.J.4
-
30
-
-
84874169331
-
Familial LCAT deficiency: From renal replacement to enzyme replacement
-
Stoekenbroek, R. M., M. A. van den Bergh Weerman, G. K. Hovingh, B. J. Potter van Loon, C. E. Siegert, and A. G. Holleboom. 2013. Familial LCAT deficiency: from renal replacement to enzyme replacement. Neth. J. Med. 71: 29-31.
-
(2013)
Neth. J. Med.
, vol.71
, pp. 29-31
-
-
Stoekenbroek, R.M.1
Weerman Bergh Den Van, M.A.2
Hovingh, G.K.3
Loon Van Potter, B.J.4
Siegert, C.E.5
Holleboom, A.G.6
-
31
-
-
84905445852
-
-
Alphacore Pharma LLC. In Clinicaltrials.gov [Internet]. National Library of Medicine (US), Bethesda, MD. Accessed June 5, 2015
-
Alphacore Pharma, LLC. 2012. Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects with Coronary Artery Disease. In Clinicaltrials.gov [Internet]. National Library of Medicine (US), Bethesda, MD. Accessed June 5, 2015, at https://clinicaltrials.gov/show/NCT01554800.
-
(2012)
Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects with Coronary Artery Disease
-
-
|