-
1
-
-
0039607823
-
Familial hyperlipoproteinemia
-
(ed. by Stanbury JB, Wyngaarden JB, and Fredrickson DS), 2nd, ed., New York, McGraw-Hill
-
Fredrickson DS, Lees RS: Familial hyperlipoproteinemia. in The Metabolic Basis of Inherited Disease (ed. by Stanbury JB, Wyngaarden JB, and Fredrickson DS), 2nd ed., New York, McGraw-Hill, 1966, pp429
-
(1966)
The Metabolic Basis of Inherited Disease
, pp. 429
-
-
Fredrickson, D.S.1
Lees, R.S.2
-
2
-
-
0002316655
-
Familial lipoprotein lipase deficiency, apoC-II deficiency and hepatic lipase deficiency
-
(ed. by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, and Vogelstein B), 8th ed., New York, McGraw-Hill
-
Brunzell JD, Deeb SS: Familial lipoprotein lipase deficiency, apoC-II deficiency and hepatic lipase deficiency. in The Metabolic and Molecular Bases of Inherited Disease (ed. by Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, and Vogelstein B), 8th ed., New York, McGraw-Hill, 2000, pp2789-2816
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2789-2816
-
-
Brunzell, J.D.1
Deeb, S.S.2
-
3
-
-
0020699657
-
Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity
-
Brunzell JD, Miller NE, Alaupovic P, St Hilaire RJ, Wang CS, Sarson DL, Bloom SR, Lewis B: Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res, 1983; 24: 12-19
-
(1983)
J Lipid Res
, vol.24
, pp. 12-19
-
-
Brunzell, J.D.1
Miller, N.E.2
Alaupovic, P.3
St Hilaire, R.J.4
Wang, C.S.5
Sarson, D.L.6
Bloom, S.R.7
Lewis, B.8
-
4
-
-
0024603077
-
Autoimmune hyperchylomicronemia
-
Kihara S, Matsuzawa Y, Kubo M, Nozaki S, Funahashi T, Yamashita S, Sho N, Tarui S: Autoimmune hyperchylomicronemia. N Engl J Med, 1989: 320; 1255-1259
-
(1989)
N Engl J Med
, vol.320
, pp. 1255-1259
-
-
Kihara, S.1
Matsuzawa, Y.2
Kubo, M.3
Nozaki, S.4
Funahashi, T.5
Yamashita, S.6
Sho, N.7
Tarui, S.8
-
5
-
-
33947573537
-
Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons
-
Beigneux AP, Davies BSJ, Gin P, Weinstein MM, Farber E, Qiao X, Peale F, Bunting S, Walzem RL, Wong JS, Blaner WS, Ding Z-M, Melford K, Wongsiriroj N, Shu X, de Sauvage F, Ryan RO, Fong LG, Bensadoun A, Young SG: Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab, 2007; 5: 279-291
-
(2007)
Cell Metab
, vol.5
, pp. 279-291
-
-
Beigneux, A.P.1
Davies, B.S.J.2
Gin, P.3
Weinstein, M.M.4
Farber, E.5
Qiao, X.6
Peale, F.7
Bunting, S.8
Walzem, R.L.9
Wong, J.S.10
Blaner, W.S.11
Ding, Z.-M.12
Melford, K.13
Wongsiriroj, N.14
Shu, X.15
de Sauvage, F.16
Ryan, R.O.17
Fong, L.G.18
Bensadoun, A.19
Young, S.G.20
more..
-
6
-
-
36549038120
-
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
-
Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nature Genet, 2007; 39: 1483-1487
-
(2007)
Nature Genet
, vol.39
, pp. 1483-1487
-
-
Peterfy, M.1
Ben-Zeev, O.2
Mao, H.Z.3
Weissglas-Volkov, D.4
Aouizerat, B.E.5
Pullinger, C.R.6
Frost, P.H.7
Kane, J.P.8
Malloy, M.J.9
Reue, K.10
Pajukanta, P.11
Doolittle, M.H.12
-
7
-
-
84863404146
-
Investigation on the molecular basis of hyperchylomicronemia
-
(in Japanese)
-
Murase T, Ohkubo M: Investigation on the molecular basis of hyperchylomicronemia. Therapeutic Res, 2000; 21: 2347-2352 (in Japanese)
-
(2000)
Therapeutic Res
, vol.21
, pp. 2347-2352
-
-
Murase, T.1
Ohkubo, M.2
-
8
-
-
0035897696
-
Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults: Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)
-
Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults: Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA, 2001; 285: 2486-2497
-
(2001)
JAMA
, vol.285
, pp. 2486-2497
-
-
-
10
-
-
6544268089
-
Uber hepatosplenomegale Lipoidose mit xanthomatosen Veranderungen der Haut und Schleimhaut
-
Bürger MB, Grütz O: Uber hepatosplenomegale Lipoidose mit xanthomatosen Veranderungen der Haut und Schleimhaut. Arch Dermatol Syph, 1932; 166: 542-544
-
(1932)
Arch Dermatol Syph
, vol.166
, pp. 542-544
-
-
Bürger, M.B.1
Grütz, O.2
-
11
-
-
0000717112
-
Idiopathic hyperlipemia: Metabolic studies in an affected family
-
Havel RJ, Gordon RS Jr: Idiopathic hyperlipemia: metabolic studies in an affected family. J Clin Invest, 1960; 39: 1777-1790
-
(1960)
J Clin Invest
, vol.39
, pp. 1777-1790
-
-
Havel, R.J.1
Gordon Jr., R.S.2
-
12
-
-
0024422772
-
Defective enzyme protein in lipoprotein lipase deficiency
-
Auwerx JH, Babirak SP, Fujimoto WY, Iverius PH, Brunzell JD: Defective enzyme protein in lipoprotein lipase deficiency. Eur J Clin Invest, 1989; 19: 433-437
-
(1989)
Eur J Clin Invest
, vol.19
, pp. 433-437
-
-
Auwerx, J.H.1
Babirak, S.P.2
Fujimoto, W.Y.3
Iverius, P.H.4
Brunzell, J.D.5
-
13
-
-
0023090942
-
Human lipoprotein lipase complementary DNA sequence
-
Wion KL, Kirchgessner TG, Lusis AJ, Schotz MC, Lawn RM: Human lipoprotein lipase complementary DNA sequence. Science 1987; 235: 1638-1641
-
(1987)
Science
, vol.235
, pp. 1638-1641
-
-
Wion, K.L.1
Kirchgessner, T.G.2
Lusis, A.J.3
Schotz, M.C.4
Lawn, R.M.5
-
14
-
-
0023370756
-
Molecular cloning and sequence of a cDNA coding for bovine lipoprotein lipase
-
Senda M, Oka K, Brown WV, Qasba PK, Furuichi Y: Molecular cloning and sequence of a cDNA coding for bovine lipoprotein lipase. Proc Natl Acad Sci USA, 1987; 84: 4369-4373
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 4369-4373
-
-
Senda, M.1
Oka, K.2
Brown, W.V.3
Qasba, P.K.4
Furuichi, Y.5
-
15
-
-
0024397097
-
Structure of the human lipoprotein lipase gene
-
Deeb SS, Peng RL: Structure of the human lipoprotein lipase gene. Biochemistry, 1989; 28: 4131-4135
-
(1989)
Biochemistry
, vol.28
, pp. 4131-4135
-
-
Deeb, S.S.1
Peng, R.L.2
-
16
-
-
0025167797
-
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
-
Wilson DE, Emi M, Iverius PH, Hata A, Wu LL, Hillas E, Williams RR, Lalouel JM: Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest 1990; 86: 735-750
-
(1990)
J Clin Invest
, vol.86
, pp. 735-750
-
-
Wilson, D.E.1
Emi, M.2
Iverius, P.H.3
Hata, A.4
Wu, L.L.5
Hillas, E.6
Williams, R.R.7
Lalouel, J.M.8
-
17
-
-
0028230993
-
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: Possible association with apolipoprotein E2 isoform
-
Ma Y, Ooi TC, Liu MS, Zhang H, McPherson R, Edwards AL, Forsythe IJ, Frohlich J, Brunzell JD, Hayden MR: High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res, 1994; 35: 1066-1075
-
(1994)
J Lipid Res
, vol.35
, pp. 1066-1075
-
-
Ma, Y.1
Ooi, T.C.2
Liu, M.S.3
Zhang, H.4
McPherson, R.5
Edwards, A.L.6
Forsythe, I.J.7
Frohlich, J.8
Brunzell, J.D.9
Hayden, M.R.10
-
18
-
-
0029808302
-
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
-
Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné SE, Hayden M: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med, 1996; 335: 848-854
-
(1996)
N Engl J Med
, vol.335
, pp. 848-854
-
-
Benlian, P.1
de Gennes, J.L.2
Foubert, L.3
Zhang, H.4
Gagné, S.E.5
Hayden, M.6
-
19
-
-
0035194256
-
No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61->stop) in the lipoprotein lipase gene
-
Ebara T, Okubo M, Horinishi A, Adachi M, Murase T, Hirano T: No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61->stop) in the lipoprotein lipase gene. Atherosclerosis, 2001; 159: 375-379
-
(2001)
Atherosclerosis
, vol.159
, pp. 375-379
-
-
Ebara, T.1
Okubo, M.2
Horinishi, A.3
Adachi, M.4
Murase, T.5
Hirano, T.6
-
20
-
-
28744454601
-
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis
-
Kawashiri MA, Higashikata T, Mizuno M, Takata M, Katsuda S, Miwa K, Nozue T, Nohara A, Inazu A, Kobayashi J, Koizumi J, Mabuchi H: Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. J Clin Endocrinol Metab, 2005; 90: 6541-6544
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6541-6544
-
-
Kawashiri, M.A.1
Higashikata, T.2
Mizuno, M.3
Takata, M.4
Katsuda, S.5
Miwa, K.6
Nozue, T.7
Nohara, A.8
Inazu, A.9
Kobayashi, J.10
Koizumi, J.11
Mabuchi, H.12
-
21
-
-
0025001512
-
A sandwich-enzyme immunoassay for the quantification of lipoprotein lipase and hepatic triglyceride lipase in human postheparin plasma using monoclonal antibodies to the corresponding enzymes
-
Ikeda Y, Takagi A, Ohkaru Y, Nogi K, Iwanaga T, Kurooka S, Yamamoto A: A sandwich-enzyme immunoassay for the quantification of lipoprotein lipase and hepatic triglyceride lipase in human postheparin plasma using monoclonal antibodies to the corresponding enzymes. J Lipid Res, 1990; 31: 1911-1924
-
(1990)
J Lipid Res
, vol.31
, pp. 1911-1924
-
-
Ikeda, Y.1
Takagi, A.2
Ohkaru, Y.3
Nogi, K.4
Iwanaga, T.5
Kurooka, S.6
Yamamoto, A.7
-
22
-
-
0027180105
-
Lipoprotein lipase mass and activity in severe hypertriglyceridemia
-
Kobayashi J, Hashimoto H, Fukamachi I, Tashiro J, Shirai K, Saito Y, Yoshida S: Lipoprotein lipase mass and activity in severe hypertriglyceridemia. Clin Chim Acta, 1993; 216: 113-123
-
(1993)
Clin Chim Acta
, vol.216
, pp. 113-123
-
-
Kobayashi, J.1
Hashimoto, H.2
Fukamachi, I.3
Tashiro, J.4
Shirai, K.5
Saito, Y.6
Yoshida, S.7
-
23
-
-
0027953729
-
Establishment of enzyme-linked immunosorbent assays for lipoprotein lipase with newly developed antibodies
-
Kawamura M, Gotoda T, Mori N, Shimano H, Kozaki K, Harada K, Shimada M, Inaba T, Watanabe Y, Yazaki Y, Yamada N: Establishment of enzyme-linked immunosorbent assays for lipoprotein lipase with newly developed antibodies. J Lipid Res, 1994; 35: 1688-1697
-
(1994)
J Lipid Res
, vol.35
, pp. 1688-1697
-
-
Kawamura, M.1
Gotoda, T.2
Mori, N.3
Shimano, H.4
Kozaki, K.5
Harada, K.6
Shimada, M.7
Inaba, T.8
Watanabe, Y.9
Yazaki, Y.10
Yamada, N.11
-
24
-
-
0035033247
-
Lipoprotein lipase (LPL) deficiency: A new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
-
Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P: Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Ann Genet, 2001; 44: 25-32
-
(2001)
Ann Genet
, vol.44
, pp. 25-32
-
-
Gilbert, B.1
Rouis, M.2
Griglio, S.3
de Lumley, L.4
Laplaud, P.5
-
25
-
-
84863405328
-
-
http://www.ncbi.nlm.nih.gov/books/NBK1308/
-
-
-
-
26
-
-
4644255647
-
Research Committee on Primary Hyperlipidemia of the Ministry of Health and Welfare of Japan: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996-
-
Maruyama T, Yamashita S, Matsuzawa Y, Bujo H, Takahashi K, Saito Y, Ishibashi S, Ohashi K, Shionoiri F, Gotoda T, Yamada N, Kita T; Research Committee on Primary Hyperlipidemia of the Ministry of Health and Welfare of Japan: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996-. J Atheroscler Thromb, 2004; 11: 131-145
-
(2004)
J Atheroscler Thromb
, vol.11
, pp. 131-145
-
-
Maruyama, T.1
Yamashita, S.2
Matsuzawa, Y.3
Bujo, H.4
Takahashi, K.5
Saito, Y.6
Ishibashi, S.7
Ohashi, K.8
Shionoiri, F.9
Gotoda, T.10
Yamada, N.11
Kita, T.12
-
27
-
-
0026344120
-
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
-
Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S, Shimano H, Takaku F, Yazaki Y, Furuichi Y, Murase T: Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J Clin Invest, 1991; 88: 1856-1864
-
(1991)
J Clin Invest
, vol.88
, pp. 1856-1864
-
-
Gotoda, T.1
Yamada, N.2
Kawamura, M.3
Kozaki, K.4
Mori, N.5
Ishibashi, S.6
Shimano, H.7
Takaku, F.8
Yazaki, Y.9
Furuichi, Y.10
Murase, T.11
-
28
-
-
0026580924
-
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
-
Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A: Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript. J Clin Invest, 1992; 89: 581-591
-
(1992)
J Clin Invest
, vol.89
, pp. 581-591
-
-
Takagi, A.1
Ikeda, Y.2
Tsutsumi, Z.3
Shoji, T.4
Yamamoto, A.5
-
29
-
-
0027494060
-
Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation
-
Kozaki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N: Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J Lipid Res, 1993; 34: 1765-1772
-
(1993)
J Lipid Res
, vol.34
, pp. 1765-1772
-
-
Kozaki, K.1
Gotoda, T.2
Kawamura, M.3
Shimano, H.4
Yazaki, Y.5
Ouchi, Y.6
Orimo, H.7
Yamada, N.8
-
30
-
-
34748812614
-
Measurements of lipoprotein lipase (LPL) activity and immunoreactive mass, and diagnosis of LPL gene
-
(in Japanese)
-
Takagi A, Ikeda Y: Measurements of lipoprotein lipase (LPL) activity and immunoreactive mass, and diagnosis of LPL gene. Nippon Rinsho, 2007; 65 (Suppl 7): 182-1890 (in Japanese)
-
(2007)
Nippon Rinsho
, vol.65
, Issue.SUPPL. 7
, pp. 182-1890
-
-
Takagi, A.1
Ikeda, Y.2
-
31
-
-
0030666462
-
Adenovirus-mediated gene transfer of human lipoprotein lipase ameliorates the hyperlipidemias associated with apolipoprotein
-
Hum Gene Thers
-
Zsigmond E, Kobayashi K, Tzung KW, Li L, Fuke Y, Chan L: Adenovirus-mediated gene transfer of human lipoprotein lipase ameliorates the hyperlipidemias associated with apolipoprotein E and LDL receptor deficiencies in mice. Hum Gene Ther, 1997; 8: 1921-1933
-
(1997)
E and LDL Receptor Deficiencies in Mice
, vol.8
, pp. 1921-1933
-
-
Zsigmond, E.1
Kobayashi, K.2
Tzung, K.W.3
Li, L.4
Fuke, Y.5
Chan, L.6
-
32
-
-
0017888564
-
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II
-
Breckenridge WC, Little JA, Steiner G, Chow A, Poapst M: Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med, 1978; 298: 1265-1273
-
(1978)
N Engl J Med
, vol.98
, pp. 265-1273
-
-
Breckenridge, W.C.1
Little, J.A.2
Steiner, G.3
Chow, A.4
Poapst, M.5
-
33
-
-
0018671804
-
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency
-
Yamamura T, Sudo H, Ishikawa K, Yamamoto A: Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. Atherosclerosis, 1979; 34: 53-65
-
(1979)
Atherosclerosis
, vol.34
, pp. 3-65
-
-
Yamamura, T.1
Sudo, H.2
Ishikawa, K.3
Yamamoto, A.4
-
34
-
-
0021141091
-
Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII
-
Jackson CL, Bruns GA, Breslow JL: Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII. Proc Natl Acad Sci USA, 1984; 81: 2945-2949
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 2945-2949
-
-
Jackson, C.L.1
Bruns, G.A.2
Breslow, J.L.3
-
35
-
-
0023158487
-
The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization
-
Fojo SS, Law SW, Brewer HB Jr: The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization. FEBS Lett, 1987; 213: 221-226
-
(1987)
FEBS Lett
, vol.213
, pp. 221-226
-
-
Fojo, S.S.1
Law, S.W.2
Brewer Jr., H.B.3
-
36
-
-
0001784838
-
Familial hyperlipoproteinemia
-
(ed. by Stanbury JB, Wyngaarden JB, and Fredrickson DS), 3rd ed. New York, McGraw-Hill
-
Fredrickson DS, Levy RI: Familial hyperlipoproteinemia, in The Metabolic Basis of Inherited Disease (ed. by Stanbury JB, Wyngaarden JB, and Fredrickson DS), 3rd ed. New York, McGraw-Hill, 1972, pp 545-614
-
(1972)
The Metabolic Basis of Inherited Disease
, pp. 545-614
-
-
Fredrickson, D.S.1
Levy, R.I.2
-
37
-
-
0026065376
-
No severe bottleneck during human evolution: Evidence from two apolipoprotein C-II deficiency alleles
-
Xiong WJ, Li WH, Posner I, Yamamura T, Yamamoto A, Gotto AM Jr, Chan L: No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles. Am J Hum Genet, 1991; 48: 383-389
-
(1991)
Am J Hum Genet
, vol.48
, pp. 383-389
-
-
Xiong, W.J.1
Li, W.H.2
Posner, I.3
Yamamura, T.4
Yamamoto, A.5
Gotto Jr., A.M.6
Chan, L.7
-
38
-
-
0027172058
-
A missense mutation (Trp 26->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama)
-
Inadera H, Hibino A, Kobayashi J, Kanzaki T, Shirai K, Yukawa S, Saito Y, Yoshida S: A missense mutation (Trp 26->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama). Biochem Biophys Res Commun, 1993; 193: 1174-1183
-
(1993)
Biochem Biophys Res Commun
, vol.193
, pp. 1174-1183
-
-
Inadera, H.1
Hibino, A.2
Kobayashi, J.3
Kanzaki, T.4
Shirai, K.5
Yukawa, S.6
Saito, Y.7
Yoshida, S.8
-
39
-
-
0030931322
-
A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient
-
Okubo M, Hasegawa Y, Aoyama Y, Murase T: A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient. Atherosclerosis, 1997; 130: 153-160
-
(1997)
Atherosclerosis
, vol.130
, pp. 153-160
-
-
Okubo, M.1
Hasegawa, Y.2
Aoyama, Y.3
Murase, T.4
-
41
-
-
26444617632
-
Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment
-
Marçais C, Verges B, Charrière S, Pruneta V, Merlin M, Billon S, Perrot L, Drai J, Sassolas A, Pennacchio LA, Fruchart-Najib J, Fruchart JC, Durlach V, Moulin P: Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. J Clin Invest, 2005; 115: 2862-2869
-
(2005)
J Clin Invest
, vol.115
, pp. 2862-2869
-
-
Marçais, C.1
Verges, B.2
Charrière, S.3
Pruneta, V.4
Merlin, M.5
Billon, S.6
Perrot, L.7
Drai, J.8
Sassolas, A.9
Pennacchio, L.A.10
Fruchart-Najib, J.11
Fruchart, J.C.12
Durlach, V.13
Moulin, P.14
-
42
-
-
0029130943
-
Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291->Ser mutation in the human LPL gene
-
Zhang H, Reymer PW, Liu MS, Forsythe IJ, Groenemeyer BE, Frohlich J, Brunzell JD, Kastelein JJ, Hayden MR, Ma Y: Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291->Ser mutation in the human LPL gene. Arterioscler Thromb Vasc Biol, 1995; 15: 1695-1703
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1695-1703
-
-
Zhang, H.1
Reymer, P.W.2
Liu, M.S.3
Forsythe, I.J.4
Groenemeyer, B.E.5
Frohlich, J.6
Brunzell, J.D.7
Kastelein, J.J.8
Hayden, M.R.9
Ma, Y.10
-
43
-
-
0030452127
-
Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease
-
Yang WS, Nevin DN, Iwasaki L, Peng R, Brown BG, Brunzell JD, Deeb SS: Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease. J Lipid Res, 1996; 37: 2627-2637
-
(1996)
J Lipid Res
, vol.37
, pp. 2627-2637
-
-
Yang, W.S.1
Nevin, D.N.2
Iwasaki, L.3
Peng, R.4
Brown, B.G.5
Brunzell, J.D.6
Deeb, S.S.7
-
44
-
-
9844225614
-
Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia
-
Zhang Q, Cavallero E, Hoffmann MM, Cavanna J, Kay A, Charles A, Braschi S, Marz W, Perlemuter L, Jacotot B, Galton DJ: Mutations at the lipoprotein lipase gene locus in subjects with diabetes mellitus, obesity and lipaemia. Clin Sci (Lond), 1997; 93: 335-341
-
(1997)
Clin Sci (Lond)
, vol.93
, pp. 335-341
-
-
Zhang, Q.1
Cavallero, E.2
Hoffmann, M.M.3
Cavanna, J.4
Kay, A.5
Charles, A.6
Braschi, S.7
Marz, W.8
Perlemuter, L.9
Jacotot, B.10
Galton, D.J.11
-
45
-
-
0032714653
-
Ser477Stop mutation of the lipoprotein lipase gene occurs at a higher frequency in Japanese subjects with normal triglyceride levels than in hypertriglyceridemic patients
-
Arai T, Tsukada T, Okubo M, Murase T, Matsumoto K: Ser477Stop mutation of the lipoprotein lipase gene occurs at a higher frequency in Japanese subjects with normal triglyceride levels than in hypertriglyceridemic patients. Atherosclerosis, 1999; 147: 417-420
-
(1999)
Atherosclerosis
, vol.147
, pp. 417-420
-
-
Arai, T.1
Tsukada, T.2
Okubo, M.3
Murase, T.4
Matsumoto, K.5
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