-
1
-
-
0037603589
-
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
-
Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, et al (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34:154-156
-
(2003)
Nat Genet
, vol.34
, pp. 154-156
-
-
Abifadel, M.1
Varret, M.2
Rabes, J.P.3
Allard, D.4
Ouguerram, K.5
Devillers, M.6
Cruaud, C.7
-
2
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
3
-
-
10344253854
-
NARC-1/PCSK9 and its natural mutants: Zymogen cleavage and effects on the LDLR and LDL-cholesterol
-
Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin W, Asselin MC, Hamelin J, Varret M, Allard D, Trillard M, Abifadel M, Tebon A, Attie AD, Rader DJ, Boileau C, Brissette L, Chretien M, Prat A, Seidah NG (2004) NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the LDLR and LDL-cholesterol. J Biol Chem 279:48865-48875
-
(2004)
J Biol Chem
, vol.279
, pp. 48865-48875
-
-
Benjannet, S.1
Rhainds, D.2
Essalmani, R.3
Mayne, J.4
Wickham, L.5
Jin, W.6
Asselin, M.C.7
Hamelin, J.8
Varret, M.9
Allard, D.10
Trillard, M.11
Abifadel, M.12
Tebon, A.13
Attie, A.D.14
Rader, D.J.15
Boileau, C.16
Brissette, L.17
Chretien, M.18
Prat, A.19
Seidah, N.G.20
more..
-
5
-
-
10644220306
-
Prevalence of hepatic steatosis in an urban population in the United States: Impact of ethnicity
-
Browning JD, Szczepaniak LS, Dobbins R, Nuremberg P, Horton JD, Cohen JC, Grundy SM, Hobbs HH (2004) Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology 40:1387-1395
-
(2004)
Hepatology
, vol.40
, pp. 1387-1395
-
-
Browning, J.D.1
Szczepaniak, L.S.2
Dobbins, R.3
Nuremberg, P.4
Horton, J.D.5
Cohen, J.C.6
Grundy, S.M.7
Hobbs, H.H.8
-
6
-
-
18944392912
-
A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis
-
Chen SN, Ballantyne CM, Gotto AM Jr, Tan Y, Willerson JT, Marian AJ (2005) A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis. J Am Coll Cardiol 45:1611-1619
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 1611-1619
-
-
Chen, S.N.1
Ballantyne, C.M.2
Gotto Jr., A.M.3
Tan, Y.4
Willerson, J.T.5
Marian, A.J.6
-
7
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161-165
-
(2005)
Nat Genet
, vol.37
, pp. 161-165
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
Graham, R.4
Garcia, C.K.5
Hobbs, H.H.6
-
8
-
-
0037263797
-
Strategies and tools for whole-genome alignments
-
Couronne O, Poliakov A, Bray N, Ishkhanov T, Ryaboy D, Rubin E, Pachter L, Dubchak I (2003) Strategies and tools for whole-genome alignments. Genome Res 13:73-80
-
(2003)
Genome Res
, vol.13
, pp. 73-80
-
-
Couronne, O.1
Poliakov, A.2
Bray, N.3
Ishkhanov, T.4
Ryaboy, D.5
Rubin, E.6
Pachter, L.7
Dubchak, I.8
-
9
-
-
3943060193
-
Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia
-
Dubuc G, Chamberland A, Wassef H, Davignon J, Seidah NG, Bernier L, Prat A (2004) Statins upregulate PCSK9, the gene encoding the proprotein convertase neural apoptosis-regulated convertase-1 implicated in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 24:1454-1459
-
(2004)
Arterioscler Thromb Vasc Biol
, vol.24
, pp. 1454-1459
-
-
Dubuc, G.1
Chamberland, A.2
Wassef, H.3
Davignon, J.4
Seidah, N.G.5
Bernier, L.6
Prat, A.7
-
10
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
11
-
-
0035906961
-
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
-
Garcia CK, Wilund K, Area M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292:1394-1398
-
(2001)
Science
, vol.292
, pp. 1394-1398
-
-
Garcia, C.K.1
Wilund, K.2
Area, M.3
Zuliani, G.4
Fellin, R.5
Maioli, M.6
Calandra, S.7
Bertolini, S.8
Cossu, F.9
Grishin, N.10
Barnes, R.11
Cohen, J.C.12
Hobbs, H.H.13
-
12
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver C, Beaudet A, Sly W, Valle D (eds). McGraw Hill, New York
-
Goldstein J, Hobbs H, Brown M (2001) Familial hypercholesterolemia. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol II. McGraw Hill, New York, pp 2863-2913
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2863-2913
-
-
Goldstein, J.1
Hobbs, H.2
Brown, M.3
-
13
-
-
0027512278
-
Genetic and environmental influences on serum lipid levels in twins
-
Heller DA, de Faire U, Pedersen NL, Dahlen G, McClearn GE (1993) Genetic and environmental influences on serum lipid levels in twins. N Engl J Med 328:1150-1156
-
(1993)
N Engl J Med
, vol.328
, pp. 1150-1156
-
-
Heller, D.A.1
De Faire, U.2
Pedersen, N.L.3
Dahlen, G.4
McClearn, G.E.5
-
14
-
-
0142027805
-
Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes
-
Horton JD, Shah NA, Warrington JA, Anderson NN, Park SW, Brown MS, Goldstein JL (2003) Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes. Proc Natl Acad Sci USA 100:12027-12032
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 12027-12032
-
-
Horton, J.D.1
Shah, N.A.2
Warrington, J.A.3
Anderson, N.N.4
Park, S.W.5
Brown, M.S.6
Goldstein, J.L.7
-
15
-
-
0025102741
-
Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia
-
Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, Grundy SM, Friedl W, Davignon J, McCarthy BJ (1990) Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31:1337-1349
-
(1990)
J Lipid Res
, vol.31
, pp. 1337-1349
-
-
Innerarity, T.L.1
Mahley, R.W.2
Weisgraber, K.H.3
Bersot, T.P.4
Krauss, R.M.5
Vega, G.L.6
Grundy, S.M.7
Friedl, W.8
Davignon, J.9
McCarthy, B.J.10
-
17
-
-
24944466615
-
Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells
-
Lalanne F, Lambert G, Amar MJ, Chetiveaux M, Zair Y, Jarnoux AL, Ouguerram K, Friburg J, Seidah NG, Brewer HB Jr, Krempf M, Costet P (2005) Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells. J Lipid Res 46:1312-1319
-
(2005)
J Lipid Res
, vol.46
, pp. 1312-1319
-
-
Lalanne, F.1
Lambert, G.2
Amar, M.J.3
Chetiveaux, M.4
Zair, Y.5
Jarnoux, A.L.6
Ouguerram, K.7
Friburg, J.8
Seidah, N.G.9
Brewer Jr., H.B.10
Krempf, M.11
Costet, P.12
-
18
-
-
2442670243
-
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
-
Leren TP (2004) Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet 65:419-422
-
(2004)
Clin Genet
, vol.65
, pp. 419-422
-
-
Leren, T.P.1
-
19
-
-
2342451128
-
Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype
-
Maxwell KN, Breslow JL (2004) Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc Natl Acad Sci USA 101:7100-7105
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 7100-7105
-
-
Maxwell, K.N.1
Breslow, J.L.2
-
20
-
-
0344236142
-
Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice
-
Maxwell KN, Soccio RE, Duncan EM, Sehayek E, Breslow JL (2003) Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice. J Lipid Res 44:2109-2119
-
(2003)
J Lipid Res
, vol.44
, pp. 2109-2119
-
-
Maxwell, K.N.1
Soccio, R.E.2
Duncan, E.M.3
Sehayek, E.4
Breslow, J.L.5
-
21
-
-
10744230230
-
Functional characterization of Narc 1, a novel proteinase related to proteinase K
-
Naureckiene S, Ma L, Sreekumar K, Purandare U, Lo CF, Huang Y, Chiang LW, Grenier JM, Ozenberger BA, Jacobsen JS, Kennedy JD, DiStefano PS, Wood A, Bingham B (2003) Functional characterization of Narc 1, a novel proteinase related to proteinase K. Arch Biochem Biophys 420:55-67
-
(2003)
Arch Biochem Biophys
, vol.420
, pp. 55-67
-
-
Naureckiene, S.1
Ma, L.2
Sreekumar, K.3
Purandare, U.4
Lo, C.F.5
Huang, Y.6
Chiang, L.W.7
Grenier, J.M.8
Ozenberger, B.A.9
Jacobsen, J.S.10
Kennedy, J.D.11
Distefano, P.S.12
Wood, A.13
Bingham, B.14
-
22
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
23
-
-
3943090528
-
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9
-
Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M, Boileau C, Magot T, Krempf M (2004) Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol 24:1448-1453
-
(2004)
Arterioscler Thromb Vasc Biol
, vol.24
, pp. 1448-1453
-
-
Ouguerram, K.1
Chetiveaux, M.2
Zair, Y.3
Costet, P.4
Abifadel, M.5
Varret, M.6
Boileau, C.7
Magot, T.8
Krempf, M.9
-
24
-
-
9644266673
-
Post-transcriptional regulation of LDL receptor protein by proprotein convertase subtilisin/kexin type 9a (PCSK9) in mouse liver
-
Park SW, Moon YA, Horton JD (2004) Post-transcriptional regulation of LDL receptor protein by proprotein convertase subtilisin/kexin type 9a (PCSK9) in mouse liver. J Biol Chem 279:50630-50638
-
(2004)
J Biol Chem
, vol.279
, pp. 50630-50638
-
-
Park, S.W.1
Moon, Y.A.2
Horton, J.D.3
-
25
-
-
9644266673
-
Post-transcriptional regulation of LDL receptor protein by proprotein convertase subtilisin/kexin type 9a (PCSK9) in mouse liver
-
Park SW, Moon YA, Horton JD (2004) Post-transcriptional regulation of LDL receptor protein by proprotein convertase subtilisin/kexin type 9a (PCSK9) in mouse liver. J Biol Chem 279:50630-50638
-
(2004)
J Biol Chem
, vol.279
, pp. 50630-50638
-
-
Park, S.W.1
Moon, Y.A.2
Horton, J.D.3
-
26
-
-
0020309597
-
The Cincinnati Lipid Research Clinic family study: Cultural and biological determinants of lipids and lipoprotein concentrations
-
Rao DC, Laskarzewski PM, Morrison JA, Khoury P, Kelly K, Wette R, Russell J, Glueck CJ (1982) The Cincinnati Lipid Research Clinic family study: cultural and biological determinants of lipids and lipoprotein concentrations. Am J Hum Genet 34:888-903
-
(1982)
Am J Hum Genet
, vol.34
, pp. 888-903
-
-
Rao, D.C.1
Laskarzewski, P.M.2
Morrison, J.A.3
Khoury, P.4
Kelly, K.5
Wette, R.6
Russell, J.7
Glueck, C.J.8
-
27
-
-
17244377696
-
Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9
-
Rashid S, Curtis DE, Garuti R, Anderson NN, Bashmakov Y, Ho YK, Hammer RE, Moon YA, Horton JD (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci USA 102:5374-5379
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 5374-5379
-
-
Rashid, S.1
Curtis, D.E.2
Garuti, R.3
Anderson, N.N.4
Bashmakov, Y.5
Ho, Y.K.6
Hammer, R.E.7
Moon, Y.A.8
Horton, J.D.9
-
28
-
-
0037203476
-
Randomized clinical trials on the effects of dietary fat and carbohydrate on plasma lipoproteins and cardiovascular disease
-
Sacks FM, Katan M (2002) Randomized clinical trials on the effects of dietary fat and carbohydrate on plasma lipoproteins and cardiovascular disease. Am J Med Suppl 9B 113:135-245
-
(2002)
Am J Med Suppl 9B
, vol.113
, pp. 135-245
-
-
Sacks, F.M.1
Katan, M.2
-
29
-
-
0038620476
-
Fatty liver in familial hypobetalipoproteinemia: Triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis
-
Schonfeld G, Patterson BW, Yablonskiy DA, Tanoli TS, Averna M, Elias N, Yue P, Ackerman J (2003) Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. J Lipid Res 44:470-478
-
(2003)
J Lipid Res
, vol.44
, pp. 470-478
-
-
Schonfeld, G.1
Patterson, B.W.2
Yablonskiy, D.A.3
Tanoli, T.S.4
Averna, M.5
Elias, N.6
Yue, P.7
Ackerman, J.8
-
30
-
-
0037417807
-
The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation
-
Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Jasmin SB, Stifani S, Basak A, Prat A, Chretien M (2003) The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. PNAS 100:928-933
-
(2003)
PNAS
, vol.100
, pp. 928-933
-
-
Seidah, N.G.1
Benjannet, S.2
Wickham, L.3
Marcinkiewicz, J.4
Jasmin, S.B.5
Stifani, S.6
Basak, A.7
Prat, A.8
Chretien, M.9
-
31
-
-
1642463530
-
Genetic variants in PCSK9 affect the cholesterol level in Japanese
-
Shioji K, Mannami T, Kokubo Y, Inamoto N, Takagi S, Goto Y, Nonogi H, Iwai N (2004) Genetic variants in PCSK9 affect the cholesterol level in Japanese. J Hum Genet 49:109-114
-
(2004)
J Hum Genet
, vol.49
, pp. 109-114
-
-
Shioji, K.1
Mannami, T.2
Kokubo, Y.3
Inamoto, N.4
Takagi, S.5
Goto, Y.6
Nonogi, H.7
Iwai, N.8
-
32
-
-
18144406186
-
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia
-
Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, Soutar AK (2005) Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet 14:1161-1169
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1161-1169
-
-
Sun, X.M.1
Eden, E.R.2
Tosi, I.3
Neuwirth, C.K.4
Wile, D.5
Naoumova, R.P.6
Soutar, A.K.7
-
33
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
34
-
-
12144259379
-
Magnetic resonance spectroscopy to measure hepatic triglyceride content: Prevalence of hepatic steatosis in the general population
-
Szczepaniak LS, Nurenberg P, Leonard D, Browning JD, Reingold JS, Grundy S, Hobbs HH, Dobbins RL (2004) Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. Am J Physiol Endocrinol Metab 288:E462-E468
-
(2004)
Am J Physiol Endocrinol Metab
, vol.288
-
-
Szczepaniak, L.S.1
Nurenberg, P.2
Leonard, D.3
Browning, J.D.4
Reingold, J.S.5
Grundy, S.6
Hobbs, H.H.7
Dobbins, R.L.8
-
35
-
-
5344244656
-
-
R Foundation for Statistical Computing, Vienna, Austria
-
The R Development Core Team (2004) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria
-
(2004)
R: A Language and Environment for Statistical Computing
-
-
-
36
-
-
0037249501
-
PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
-
Thomas PD, Kejariwal A, Campbell MJ, Mi H, Diemer K, Guo N, Ladunga I, Ulitsky-Lazareva B, Muruganujan A, Rabkin S, Vandergriff JA, Doremieux O (2003) PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res 31:334-341
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 334-341
-
-
Thomas, P.D.1
Kejariwal, A.2
Campbell, M.J.3
Mi, H.4
Diemer, K.5
Guo, N.6
Ladunga, I.7
Ulitsky-Lazareva, B.8
Muruganujan, A.9
Rabkin, S.10
Vandergriff, J.A.11
Doremieux, O.12
-
37
-
-
12144285659
-
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
-
Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet 114:349-353
-
(2004)
Hum Genet
, vol.114
, pp. 349-353
-
-
Timms, K.M.1
Wagner, S.2
Samuels, M.E.3
Forbey, K.4
Goldfine, H.5
Jammulapati, S.6
Skolnick, M.H.7
Hopkins, P.N.8
Hunt, S.C.9
Shattuck, D.M.10
-
38
-
-
2942548997
-
The Dallas Heart Study: A population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health
-
Victor RG, Haley RW, Willett DL, Peshock RM, Vaeth PC, Leonard D, Basit M, Cooper RS, Iannacchione VG, Visscher WA, Staab JM, Hobbs HH (2004) The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health. Am J Cardiol 93:1473-1480
-
(2004)
Am J Cardiol
, vol.93
, pp. 1473-1480
-
-
Victor, R.G.1
Haley, R.W.2
Willett, D.L.3
Peshock, R.M.4
Vaeth, P.C.5
Leonard, D.6
Basit, M.7
Cooper, R.S.8
Iannacchione, V.G.9
Visscher, W.A.10
Staab, J.M.11
Hobbs, H.H.12
|