共 30 条
[1]
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
[J].
Abifadel, M
;
Varret, M
;
Rabès, JP
;
Allard, D
;
Ouguerram, K
;
Devillers, M
;
Cruaud, C
;
Benjannet, S
;
Wickham, L
;
Erlich, D
;
Derré, A
;
Villéger, L
;
Farnier, M
;
Beucler, I
;
Bruckert, E
;
Chambaz, J
;
Chanu, B
;
Lecerf, JM
;
Luc, G
;
Moulin, P
;
Weissenbach, J
;
Prat, A
;
Krempf, M
;
Junien, C
;
Seidah, NG
;
Boileau, C
.
NATURE GENETICS,
2003, 34 (02)
:154-156

Abifadel, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Varret, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Rabès, JP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Allard, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Ouguerram, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Devillers, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Cruaud, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Benjannet, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Wickham, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Erlich, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Derré, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Villéger, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Farnier, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Beucler, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Bruckert, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Chambaz, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Chanu, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Lecerf, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Luc, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Moulin, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Weissenbach, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Prat, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Krempf, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Junien, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Seidah, NG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France

Boileau, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, INSERM, U383, Hop Necker Enfants Malad,APHP, F-75743 Paris 15, France
[2]
Mutations and Polymorphisms in the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) Gene in Cholesterol Metabolism and Disease
[J].
Abifadel, Marianne
;
Rabes, Jean-Pierre
;
Devillers, Martine
;
Munnich, Arnold
;
Erlich, Daniele
;
Junien, Claudine
;
Varret, Mathilde
;
Boileau, Catherine
.
HUMAN MUTATION,
2009, 30 (04)
:520-529

Abifadel, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France
Univ St Joseph, Fac Pharm, Beirut, Lebanon
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Rabes, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Paris, France
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France
Univ Versailles St Quentin en Yvelines, UFR Med Paris Ile France Ouest, Boulogne, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Devillers, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Erlich, Daniele
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Junien, Claudine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Varret, Mathilde
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France

Boileau, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Paris, France
Hop Necker Enfants Malad, AP HP, F-75743 Paris 15, France
Univ Paris 05, Fac Med, Paris, France
Univ Versailles St Quentin en Yvelines, UFR Med Paris Ile France Ouest, Boulogne, France Hop Necker Enfants Malad, INSERM, U781, Clin Maurice Lamy, F-75743 Paris 15, France
[3]
Serum proprotein convertase subtilisin Kexin type 9 is correlated directly with serum LDL cholesterol
[J].
Alborn, William E.
;
Cao, Guoqing
;
Careskey, Holly E.
;
Qian, Yue-Wei
;
Subramaniam, Danise R.
;
Davies, Julian
;
Conner, Elaine M.
;
Konrad, Robert J.
.
CLINICAL CHEMISTRY,
2007, 53 (10)
:1814-1819

Alborn, William E.
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Cao, Guoqing
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Careskey, Holly E.
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Qian, Yue-Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Subramaniam, Danise R.
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Davies, Julian
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Conner, Elaine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA

Konrad, Robert J.
论文数: 0 引用数: 0
h-index: 0
机构:
Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA
[4]
Plasma PCSK9 Is Associated with Age, Sex, and Multiple Metabolic Markers in a Population-Based Sample of Children and Adolescents
[J].
Baass, Alexis
;
Dubuc, Genevieve
;
Tremblay, Michel
;
Delvin, Edgard E.
;
O'Loughlin, Jennifer
;
Levy, Emile
;
Davignon, Jean
;
Lambert, Marie
.
CLINICAL CHEMISTRY,
2009, 55 (09)
:1637-1645

Baass, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, Montreal, PQ H2W 1R7, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Dubuc, Genevieve
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, Montreal, PQ H2W 1R7, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Tremblay, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, Montreal, PQ H2W 1R7, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Delvin, Edgard E.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Dept Clin Biochem, Montreal, PQ H3T 1C5, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

O'Loughlin, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Dept Social & Prevent Med, Montreal, PQ, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Levy, Emile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Dept Nutr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Davignon, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Res Inst Montreal, Hyperlipidemia & Atherosclerosis Res Grp, Montreal, PQ H2W 1R7, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

Lambert, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada CHU St Justine, Med Genet Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada
[5]
NARC-1/PCSK9 and its natural mutants -: Zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol
[J].
Benjannet, S
;
Rhainds, D
;
Essalmani, R
;
Mayne, J
;
Wickham, L
;
Jin, WJ
;
Asselin, MC
;
Hamelin, J
;
Varret, M
;
Allard, D
;
Trillard, M
;
Abifadel, M
;
Tebon, A
;
Attie, AD
;
Rader, DJ
;
Boileau, C
;
Brissette, L
;
Chrétien, M
;
Prat, A
;
Seidah, NG
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2004, 279 (47)
:48865-48875

Benjannet, S
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Rhainds, D
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Essalmani, R
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Mayne, J
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Wickham, L
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Jin, WJ
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Asselin, MC
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Hamelin, J
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Varret, M
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Allard, D
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Trillard, M
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Abifadel, M
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Tebon, A
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Attie, AD
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Rader, DJ
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Boileau, C
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Brissette, L
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Chrétien, M
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Prat, A
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada

Seidah, NG
论文数: 0 引用数: 0
h-index: 0
机构: Clin Res Inst Montreal, Biochem Neuroendocrinol Lab, Montreal, PQ H2W 1R7, Canada
[6]
Cao Guoqing, 2008, Endocrine Metabolic & Immune Disorders-Drug Targets, V8, P238, DOI 10.2174/187153008786848286
[7]
CARESKEY HE, 2007, J LIPID RES, V21, P21
[8]
CARIOU B, 2010, ATHEROSCLEROSIS, V20, P20
[9]
Low LDL cholesterol in African Americans resulting from frequent nonsense mutations in PCSK9
[J].
Cohen, J
;
Pertsemlidis, A
;
Kotowski, IK
;
Graham, R
;
Garcia, CK
;
Hobbs, HH
.
NATURE GENETICS,
2005, 37 (03)
:328-328

Cohen, J
论文数: 0 引用数: 0
h-index: 0

Pertsemlidis, A
论文数: 0 引用数: 0
h-index: 0

Kotowski, IK
论文数: 0 引用数: 0
h-index: 0

Graham, R
论文数: 0 引用数: 0
h-index: 0

Garcia, CK
论文数: 0 引用数: 0
h-index: 0

Hobbs, HH
论文数: 0 引用数: 0
h-index: 0
[10]
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
[J].
Cohen, JC
;
Boerwinkle, E
;
Mosley, TH
;
Hobbs, HH
.
NEW ENGLAND JOURNAL OF MEDICINE,
2006, 354 (12)
:1264-1272

Cohen, JC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Howard Hughes Med Inst, Dallas, TX 75390 USA

Boerwinkle, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Howard Hughes Med Inst, Dallas, TX 75390 USA

Mosley, TH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Howard Hughes Med Inst, Dallas, TX 75390 USA

Hobbs, HH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Texas, SW Med Ctr, Howard Hughes Med Inst, Dallas, TX 75390 USA
