-
1
-
-
20744442541
-
Familial hypobetalipoproteinemia: genetics and metabolism
-
Schonfeld G., Lin X., Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell. Mol. Life Sci. 2005, 62(12):1372-1378.
-
(2005)
Cell. Mol. Life Sci.
, vol.62
, Issue.12
, pp. 1372-1378
-
-
Schonfeld, G.1
Lin, X.2
Yue, P.3
-
2
-
-
0038620476
-
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis
-
Schonfeld G., Patterson B.W., Yablonskiy D.A., et al. Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. J.Lipid Res. 2003, 44(3):470-478.
-
(2003)
J.Lipid Res.
, vol.44
, Issue.3
, pp. 470-478
-
-
Schonfeld, G.1
Patterson, B.W.2
Yablonskiy, D.A.3
-
3
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
Cohen J., Pertsemlidis A., Kotowski I.K., et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 2005, 37(2):161-165.
-
(2005)
Nat. Genet.
, vol.37
, Issue.2
, pp. 161-165
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
-
4
-
-
0032898617
-
Known mutations of apoB account for only a small minority of hypobetalipoproteinemia
-
Wu J., Kim J., Li Q., et al. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia. J.Lipid Res. 1999, 40(5):955-959.
-
(1999)
J.Lipid Res.
, vol.40
, Issue.5
, pp. 955-959
-
-
Wu, J.1
Kim, J.2
Li, Q.3
-
5
-
-
78649755576
-
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
-
Musunuru K., Pirruccello J.P., Do R., et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N.Engl. J. Med. 2010, 363(23):2220-2227.
-
(2010)
N.Engl. J. Med.
, vol.363
, Issue.23
, pp. 2220-2227
-
-
Musunuru, K.1
Pirruccello, J.P.2
Do, R.3
-
6
-
-
84860864326
-
Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3
-
Pisciotta L., Favari E., Magnolo L., et al. Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3. Circ. Cardiovasc. Genet. 2012, 5(1):42-50.
-
(2012)
Circ. Cardiovasc. Genet.
, vol.5
, Issue.1
, pp. 42-50
-
-
Pisciotta, L.1
Favari, E.2
Magnolo, L.3
-
7
-
-
84857641121
-
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
-
Noto D., Cefalù A.B., Valenti V., et al. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arterioscler. Thromb. Vasc. Biol. 2012, 32(3):805-809.
-
(2012)
Arterioscler. Thromb. Vasc. Biol.
, vol.32
, Issue.3
, pp. 805-809
-
-
Noto, D.1
Cefalù, A.B.2
Valenti, V.3
-
8
-
-
84856224394
-
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation
-
Martin-Campos J.M., Roig R., Mayoral C., et al. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. Clin. Chim. Acta 2012, 413(5-6):552-555.
-
(2012)
Clin. Chim. Acta
, vol.413
, Issue.5-6
, pp. 552-555
-
-
Martin-Campos, J.M.1
Roig, R.2
Mayoral, C.3
-
9
-
-
84863570067
-
Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization
-
Minicocci I., Montali A., Robciuc M.R., et al. Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. J.Clin. Endocrinol. Metab. 2012, 97(7):E1266-E1275.
-
(2012)
J.Clin. Endocrinol. Metab.
, vol.97
, Issue.7
, pp. E1266-E1275
-
-
Minicocci, I.1
Montali, A.2
Robciuc, M.R.3
-
10
-
-
77649099496
-
Impacts of angiopoietin-like proteins on lipoprotein metabolism and cardiovascular events
-
Miida T., Hirayama S. Impacts of angiopoietin-like proteins on lipoprotein metabolism and cardiovascular events. Curr. Opin. Lipidol. 2010, 21(1):70-75.
-
(2010)
Curr. Opin. Lipidol.
, vol.21
, Issue.1
, pp. 70-75
-
-
Miida, T.1
Hirayama, S.2
-
11
-
-
0037072759
-
ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase
-
Shimizugawa T., Ono M., Shimamura M., et al. ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase. J.Biol. Chem. 2002, 277(37):33742-33748.
-
(2002)
J.Biol. Chem.
, vol.277
, Issue.37
, pp. 33742-33748
-
-
Shimizugawa, T.1
Ono, M.2
Shimamura, M.3
-
12
-
-
33846407979
-
Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase
-
Shimamura M., Matsuda M., Yasumo H., et al. Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase. Arterioscler. Thromb. Vasc. Biol. 2007, 27(2):366-372.
-
(2007)
Arterioscler. Thromb. Vasc. Biol.
, vol.27
, Issue.2
, pp. 366-372
-
-
Shimamura, M.1
Matsuda, M.2
Yasumo, H.3
-
13
-
-
0034019727
-
Invivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene
-
Elias N., Patterson B.W., Schonfeld G. Invivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene. Arterioscler. Thromb. Vasc. Biol. 2000, 20(5):1309-1315.
-
(2000)
Arterioscler. Thromb. Vasc. Biol.
, vol.20
, Issue.5
, pp. 1309-1315
-
-
Elias, N.1
Patterson, B.W.2
Schonfeld, G.3
-
14
-
-
38049077373
-
Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population
-
Miyake Y., Kimura R., Kokubo Y., et al. Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population. Atherosclerosis 2008, 196(1):29-36.
-
(2008)
Atherosclerosis
, vol.196
, Issue.1
, pp. 29-36
-
-
Miyake, Y.1
Kimura, R.2
Kokubo, Y.3
-
15
-
-
0034763555
-
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene
-
Tarugi P., Lonardo A., Gabelli C., et al. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J.Lipid Res. 2001, 42(10):1552-1561.
-
(2001)
J.Lipid Res.
, vol.42
, Issue.10
, pp. 1552-1561
-
-
Tarugi, P.1
Lonardo, A.2
Gabelli, C.3
-
16
-
-
0025257612
-
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
-
Hixson J.E., Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J.Lipid Res. 1990, 31(3):545-548.
-
(1990)
J.Lipid Res.
, vol.31
, Issue.3
, pp. 545-548
-
-
Hixson, J.E.1
Vernier, D.T.2
-
17
-
-
61749090233
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
-
Romeo S., Yin W., Kozlitina J., et al. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J.Clin. Invest. 2009, 119(1):70-79.
-
(2009)
J.Clin. Invest.
, vol.119
, Issue.1
, pp. 70-79
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
-
18
-
-
84876260798
-
Genetics: a gene of rare effect
-
Hall S.S. Genetics: a gene of rare effect. Nature 2013, 496(7444):152-155.
-
(2013)
Nature
, vol.496
, Issue.7444
, pp. 152-155
-
-
Hall, S.S.1
-
19
-
-
1942516351
-
ANGPTL3 is increased in both insulin-deficient and -resistant diabetic states
-
Inukai K., Nakashima Y., Watanabe M., et al. ANGPTL3 is increased in both insulin-deficient and -resistant diabetic states. Biochem. Biophys. Res. Commun. 2004, 317(4):1075-1079.
-
(2004)
Biochem. Biophys. Res. Commun.
, vol.317
, Issue.4
, pp. 1075-1079
-
-
Inukai, K.1
Nakashima, Y.2
Watanabe, M.3
|