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Volumn 91, Issue 1, 2007, Pages 7-14

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse

Author keywords

Fetal development; Genetics; Maternal fetal transfer; RSH syndrome; Sterols

Indexed keywords

3BETA HYDROXYSTEROL DELTA7 REDUCTASE; APOLIPOPROTEIN E; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

EID: 34047251013     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.11.009     Document Type: Article
Times cited : (11)

References (40)
  • 1
    • 0028314608 scopus 로고
    • RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations
    • Opitz J.M. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. Am. J. Med. Genet. 50 4 (1994) 344-346
    • (1994) Am. J. Med. Genet. , vol.50 , Issue.4 , pp. 344-346
    • Opitz, J.M.1
  • 6
    • 0033960672 scopus 로고    scopus 로고
    • Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G -->C is found in over sixty percent of US propositi
    • Yu H., Tint G.S., Salen G., and Patel S.B. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G -->C is found in over sixty percent of US propositi. Am. J. Med. Genet. 90 4 (2000) 347-350
    • (2000) Am. J. Med. Genet. , vol.90 , Issue.4 , pp. 347-350
    • Yu, H.1    Tint, G.S.2    Salen, G.3    Patel, S.B.4
  • 7
    • 27544490417 scopus 로고    scopus 로고
    • Recent insights into the Smith-Lemli-Opitz syndrome
    • Yu H., and Patel S.B. Recent insights into the Smith-Lemli-Opitz syndrome. Clin. Genet. 68 5 (2005) 383-391
    • (2005) Clin. Genet. , vol.68 , Issue.5 , pp. 383-391
    • Yu, H.1    Patel, S.B.2
  • 8
    • 0035717790 scopus 로고    scopus 로고
    • Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome
    • Battaile K.P., Battaile B.C., Merkens L.S., Maslen C.L., and Steiner R.D. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol. Genet. Metab. 72 1 (2001) 67-71
    • (2001) Mol. Genet. Metab. , vol.72 , Issue.1 , pp. 67-71
    • Battaile, K.P.1    Battaile, B.C.2    Merkens, L.S.3    Maslen, C.L.4    Steiner, R.D.5
  • 9
    • 0033960672 scopus 로고    scopus 로고
    • Detection of a Common Mutation in the RSH or Smith-Lemli-Opitz Syndrome by a PCR-RFLP assay
    • Yu H., Tint G.S., Salen G., and Patel S.B. Detection of a Common Mutation in the RSH or Smith-Lemli-Opitz Syndrome by a PCR-RFLP assay. Am. J. Med. Genet. 90 (2000) 347-350
    • (2000) Am. J. Med. Genet. , vol.90 , pp. 347-350
    • Yu, H.1    Tint, G.S.2    Salen, G.3    Patel, S.B.4
  • 10
    • 0034702085 scopus 로고    scopus 로고
    • Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
    • Yu H., Lee M.H., Starck L., Elias E.R., Irons M., Salen G., Patel S.B., and Tint G.S. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum. Mol. Genet. 9 9 (2000) 1385-1391
    • (2000) Hum. Mol. Genet. , vol.9 , Issue.9 , pp. 1385-1391
    • Yu, H.1    Lee, M.H.2    Starck, L.3    Elias, E.R.4    Irons, M.5    Salen, G.6    Patel, S.B.7    Tint, G.S.8
  • 12
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J., Gregg R.E., and Sing C.F. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8 1 (1988) 1-21
    • (1988) Arteriosclerosis , vol.8 , Issue.1 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 15
    • 0019783892 scopus 로고
    • Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms
    • Weisgraber K.H., Rall Jr. S.C., and Mahley R.W. Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. J. Biol. Chem. 256 17 (1981) 9077-9083
    • (1981) J. Biol. Chem. , vol.256 , Issue.17 , pp. 9077-9083
    • Weisgraber, K.H.1    Rall Jr., S.C.2    Mahley, R.W.3
  • 16
    • 0035344024 scopus 로고    scopus 로고
    • Gene-diet interaction and plasma lipid response to dietary intervention
    • Ordovas J.M. Gene-diet interaction and plasma lipid response to dietary intervention. Curr. Atheroscler. Rep. 3 3 (2001) 200-208
    • (2001) Curr. Atheroscler. Rep. , vol.3 , Issue.3 , pp. 200-208
    • Ordovas, J.M.1
  • 17
    • 0033157009 scopus 로고    scopus 로고
    • Treatment of dyslipidemia: genetic interactions with diet and drug therapy
    • Ordovas J.M., and Schaefer E.J. Treatment of dyslipidemia: genetic interactions with diet and drug therapy. Curr. Atheroscler. Rep. 1 1 (1999) 16-23
    • (1999) Curr. Atheroscler. Rep. , vol.1 , Issue.1 , pp. 16-23
    • Ordovas, J.M.1    Schaefer, E.J.2
  • 18
    • 0023775474 scopus 로고
    • Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein levels
    • Smit M., de Knijff P., Rosseneu M., Bury J., Klasen E., Frants R., and Havekes L. Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein levels. Hum. Genet. 80 3 (1988) 287-292
    • (1988) Hum. Genet. , vol.80 , Issue.3 , pp. 287-292
    • Smit, M.1    de Knijff, P.2    Rosseneu, M.3    Bury, J.4    Klasen, E.5    Frants, R.6    Havekes, L.7
  • 19
    • 27444433646 scopus 로고    scopus 로고
    • Lipoprotein metabolism of pregnant women is associated with both their genetic polymorphisms and those of their newborn children
    • Descamps O.S., Bruniaux M., Guilmot P.F., Tonglet R., and Heller F.R. Lipoprotein metabolism of pregnant women is associated with both their genetic polymorphisms and those of their newborn children. J. Lipid Res. 46 11 (2005) 2405-2414
    • (2005) J. Lipid Res. , vol.46 , Issue.11 , pp. 2405-2414
    • Descamps, O.S.1    Bruniaux, M.2    Guilmot, P.F.3    Tonglet, R.4    Heller, F.R.5
  • 20
    • 0842346181 scopus 로고    scopus 로고
    • Lipoprotein concentrations in newborns are associated with allelic variations in their mothers
    • Descamps O.S., Bruniaux M., Guilmot P.F., Tonglet R., and Heller F.R. Lipoprotein concentrations in newborns are associated with allelic variations in their mothers. Atherosclerosis 172 2 (2004) 287-298
    • (2004) Atherosclerosis , vol.172 , Issue.2 , pp. 287-298
    • Descamps, O.S.1    Bruniaux, M.2    Guilmot, P.F.3    Tonglet, R.4    Heller, F.R.5
  • 21
    • 25444530715 scopus 로고    scopus 로고
    • Transfer of maternal cholesterol to embryo and fetus in pregnant mice
    • Yoshida S., and Wada Y. Transfer of maternal cholesterol to embryo and fetus in pregnant mice. J. Lipid Res. 46 10 (2005) 2168-2174
    • (2005) J. Lipid Res. , vol.46 , Issue.10 , pp. 2168-2174
    • Yoshida, S.1    Wada, Y.2
  • 23
    • 0027258140 scopus 로고
    • Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery
    • Ishibashi S., Brown M.S., Goldstein J.L., Gerard R.D., Hammer R.E., and Herz J. Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J. Clin. Invest. 92 2 (1993) 883-893
    • (1993) J. Clin. Invest. , vol.92 , Issue.2 , pp. 883-893
    • Ishibashi, S.1    Brown, M.S.2    Goldstein, J.L.3    Gerard, R.D.4    Hammer, R.E.5    Herz, J.6
  • 24
    • 0028345073 scopus 로고
    • Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice
    • Ishibashi S., Goldstein J.L., Brown M.S., Herz J., and Burns D.K. Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. J. Clin. Invest. 93 5 (1994) 1885-1893
    • (1994) J. Clin. Invest. , vol.93 , Issue.5 , pp. 1885-1893
    • Ishibashi, S.1    Goldstein, J.L.2    Brown, M.S.3    Herz, J.4    Burns, D.K.5
  • 25
    • 0026592806 scopus 로고
    • Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein E
    • Zhang S.H., Reddick R.L., Piedrahita J.A., and Maeda N. Spontaneous hypercholesterolemia and arterial lesions in mice lacking apolipoprotein E. Science 258 5081 (1992) 468-471
    • (1992) Science , vol.258 , Issue.5081 , pp. 468-471
    • Zhang, S.H.1    Reddick, R.L.2    Piedrahita, J.A.3    Maeda, N.4
  • 26
    • 0028146233 scopus 로고
    • Diet-induced atherosclerosis in mice heterozygous and homozygous for apolipoprotein E gene disruption
    • Zhang S.H., Reddick R.L., Burkey B., and Maeda N. Diet-induced atherosclerosis in mice heterozygous and homozygous for apolipoprotein E gene disruption. J. Clin. Invest. 94 3 (1994) 937-945
    • (1994) J. Clin. Invest. , vol.94 , Issue.3 , pp. 937-945
    • Zhang, S.H.1    Reddick, R.L.2    Burkey, B.3    Maeda, N.4
  • 27
    • 18044377392 scopus 로고    scopus 로고
    • Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression
    • Yu H., Wessels A., Tint G.S., and Patel S.B. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. Brain Res. Dev. Brain Res. 156 1 (2005) 46-60
    • (2005) Brain Res. Dev. Brain Res. , vol.156 , Issue.1 , pp. 46-60
    • Yu, H.1    Wessels, A.2    Tint, G.S.3    Patel, S.B.4
  • 28
    • 0023393613 scopus 로고
    • Intestinal cholesterol absorption efficiency in man is related to apoprotein E phenotype
    • Kesaniemi Y.A., Ehnholm C., and Miettinen T.A. Intestinal cholesterol absorption efficiency in man is related to apoprotein E phenotype. J. Clin. Invest. 80 2 (1987) 578-581
    • (1987) J. Clin. Invest. , vol.80 , Issue.2 , pp. 578-581
    • Kesaniemi, Y.A.1    Ehnholm, C.2    Miettinen, T.A.3
  • 29
    • 0035949490 scopus 로고    scopus 로고
    • Introduction of human apolipoprotein E4 "domain interaction" into mouse apolipoprotein E
    • Raffai R.L., Dong L.M., Farese Jr. R.V., and Weisgraber K.H. Introduction of human apolipoprotein E4 "domain interaction" into mouse apolipoprotein E. Proc. Natl. Acad. Sci. USA 98 20 (2001) 11587-11591
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , Issue.20 , pp. 11587-11591
    • Raffai, R.L.1    Dong, L.M.2    Farese Jr., R.V.3    Weisgraber, K.H.4
  • 31
    • 17044419163 scopus 로고    scopus 로고
    • Genetic association studies of complex traits: design and analysis issues
    • Newton-Cheh C., and Hirschhorn J.N. Genetic association studies of complex traits: design and analysis issues. Mutat. Res. 573 1-2 (2005) 54-69
    • (2005) Mutat. Res. , vol.573 , Issue.1-2 , pp. 54-69
    • Newton-Cheh, C.1    Hirschhorn, J.N.2
  • 32
    • 0037426052 scopus 로고    scopus 로고
    • Problems of reporting genetic associations with complex outcomes
    • Colhoun H.M., McKeigue P.M., and Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 361 9360 (2003) 865-872
    • (2003) Lancet , vol.361 , Issue.9360 , pp. 865-872
    • Colhoun, H.M.1    McKeigue, P.M.2    Davey Smith, G.3
  • 33
    • 0032555195 scopus 로고    scopus 로고
    • Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes
    • Raabe M., Flynn L.M., Zlot C.H., Wong J.S., Veniant M.M., Hamilton R.L., and Young S.G. Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. Proc. Natl. Acad. Sci. USA 95 15 (1998) 8686-8691
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , Issue.15 , pp. 8686-8691
    • Raabe, M.1    Flynn, L.M.2    Zlot, C.H.3    Wong, J.S.4    Veniant, M.M.5    Hamilton, R.L.6    Young, S.G.7
  • 34
    • 0029933263 scopus 로고    scopus 로고
    • A novel function for apolipoprotein B: lipoprotein synthesis in the yolk sac is critical for maternal-fetal lipid transport in mice
    • Farese Jr. R.V., Cases S., Ruland S.L., Kayden H.J., Wong J.S., Young S.G., and Hamilton R.L. A novel function for apolipoprotein B: lipoprotein synthesis in the yolk sac is critical for maternal-fetal lipid transport in mice. J. Lipid Res. 37 2 (1996) 347-360
    • (1996) J. Lipid Res. , vol.37 , Issue.2 , pp. 347-360
    • Farese Jr., R.V.1    Cases, S.2    Ruland, S.L.3    Kayden, H.J.4    Wong, J.S.5    Young, S.G.6    Hamilton, R.L.7
  • 35
    • 0028800863 scopus 로고
    • Apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes
    • Huang L.S., Voyiaziakis E., Markenson D.F., Sokol K.A., Hayek T., and Breslow J.L. Apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes. J. Clin. Invest. 96 5 (1995) 2152-2161
    • (1995) J. Clin. Invest. , vol.96 , Issue.5 , pp. 2152-2161
    • Huang, L.S.1    Voyiaziakis, E.2    Markenson, D.F.3    Sokol, K.A.4    Hayek, T.5    Breslow, J.L.6
  • 37
    • 0037192774 scopus 로고    scopus 로고
    • Hypomorphic apolipoprotein E mice: a new model of conditional gene repair to examine apolipoprotein E-mediated metabolism
    • Raffai R.L., and Weisgraber K.H. Hypomorphic apolipoprotein E mice: a new model of conditional gene repair to examine apolipoprotein E-mediated metabolism. J. Biol. Chem. 277 13 (2002) 11064-11068
    • (2002) J. Biol. Chem. , vol.277 , Issue.13 , pp. 11064-11068
    • Raffai, R.L.1    Weisgraber, K.H.2
  • 38
    • 0037134439 scopus 로고    scopus 로고
    • Hypobetalipoproteinemic mice with a targeted apolipoprotein (Apo) B-27.6-specifying mutation: in vivo evidence for an important role of amino acids 1254-1744 of ApoB in lipid transport and metabolism of the apoB-containing lipoprotein
    • Chen Z., Fitzgerald R.L., and Schonfeld G. Hypobetalipoproteinemic mice with a targeted apolipoprotein (Apo) B-27.6-specifying mutation: in vivo evidence for an important role of amino acids 1254-1744 of ApoB in lipid transport and metabolism of the apoB-containing lipoprotein. J. Biol. Chem. 277 16 (2002) 14135-14145
    • (2002) J. Biol. Chem. , vol.277 , Issue.16 , pp. 14135-14145
    • Chen, Z.1    Fitzgerald, R.L.2    Schonfeld, G.3
  • 39
    • 0030175279 scopus 로고    scopus 로고
    • Human apolipoprotein E2, E3, and E4 isoform-specific transgenic mice: human-like pattern of glial and neuronal immunoreactivity in central nervous system not observed in wild-type mice
    • Xu P.T., Schmechel D., Rothrock-Christian T., Burkhart D.S., Qiu H.L., Popko B., Sullivan P., Maeda N., Saunders A.M., Roses A.D., and Gilbert J.R. Human apolipoprotein E2, E3, and E4 isoform-specific transgenic mice: human-like pattern of glial and neuronal immunoreactivity in central nervous system not observed in wild-type mice. Neurobiol. Dis. 3 3 (1996) 229-245
    • (1996) Neurobiol. Dis. , vol.3 , Issue.3 , pp. 229-245
    • Xu, P.T.1    Schmechel, D.2    Rothrock-Christian, T.3    Burkhart, D.S.4    Qiu, H.L.5    Popko, B.6    Sullivan, P.7    Maeda, N.8    Saunders, A.M.9    Roses, A.D.10    Gilbert, J.R.11
  • 40
    • 0032128001 scopus 로고    scopus 로고
    • Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2
    • Sullivan P.M., Mezdour H., Quarfordt S.H., and Maeda N. Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2. J. Clin. Invest. 102 1 (1998) 130-135
    • (1998) J. Clin. Invest. , vol.102 , Issue.1 , pp. 130-135
    • Sullivan, P.M.1    Mezdour, H.2    Quarfordt, S.H.3    Maeda, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.