메뉴 건너뛰기




Volumn 122, Issue 5, 2010, Pages 318-325

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

Author keywords

Cholesterol biosynthesis; DHCR7 deficiency; Hair sterols; Smith Lemli Opitz syndrome (SLOS); Sterol GC MS

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROSTEROL REDUCTASE; CHOLEST 7,24 DIEN 3 BETA OL; CHOLESTEROL; CHOLESTEROL DERIVATIVE; DEHYDRODESMOSTEROL; DESMOSTEROL; LANOSTEROL; LATHOSTEROL; STEROL DERIVATIVE; UNCLASSIFIED DRUG;

EID: 77958494745     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2010.08.006     Document Type: Article
Times cited : (12)

References (35)
  • 1
    • 0032493196 scopus 로고    scopus 로고
    • Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
    • Fitzky B.U., Witsch-Baumgartner M., Erdel M., et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl. Acad. Sci. U.S.A. 1998, 95(14):8181-8186.
    • (1998) Proc. Natl. Acad. Sci. U.S.A. , vol.95 , Issue.14 , pp. 8181-8186
    • Fitzky, B.U.1    Witsch-Baumgartner, M.2    Erdel, M.3
  • 2
    • 0032231459 scopus 로고    scopus 로고
    • Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
    • Wassif C.A., Maslen C., Kachilele-Linjewile S., et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 1998, 63(1):55-62.
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.1 , pp. 55-62
    • Wassif, C.A.1    Maslen, C.2    Kachilele-Linjewile, S.3
  • 3
    • 0032231706 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
    • Waterham H.R., Wijburg F.A., Hennekam R.C., et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am. J. Hum. Genet. 1998, 63(2):329-338.
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.2 , pp. 329-338
    • Waterham, H.R.1    Wijburg, F.A.2    Hennekam, R.C.3
  • 4
    • 34548253482 scopus 로고    scopus 로고
    • Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
    • Marcos J., Shackleton C.H., Buddhikot M.M., Porter F.D., Watson G.L. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). Steroids 2007, 72(11-12):802-808.
    • (2007) Steroids , vol.72 , Issue.11-12 , pp. 802-808
    • Marcos, J.1    Shackleton, C.H.2    Buddhikot, M.M.3    Porter, F.D.4    Watson, G.L.5
  • 6
    • 0001520111 scopus 로고
    • Studies on the chemical composition of human hair fat. I. The squalene-cholesterol relationship in children and adults
    • Nicolaides N., Rothman S. Studies on the chemical composition of human hair fat. I. The squalene-cholesterol relationship in children and adults. J. Invest. Dermatol. 1952, 19(6):389-391.
    • (1952) J. Invest. Dermatol. , vol.19 , Issue.6 , pp. 389-391
    • Nicolaides, N.1    Rothman, S.2
  • 7
    • 17444419711 scopus 로고    scopus 로고
    • Characterization of the lipid composition at the proximal root regions of human hair
    • Masukawa Y., Narita H., Imokawa G. Characterization of the lipid composition at the proximal root regions of human hair. J. Cosmet. Sci. 2005, 56(1):1-16.
    • (2005) J. Cosmet. Sci. , vol.56 , Issue.1 , pp. 1-16
    • Masukawa, Y.1    Narita, H.2    Imokawa, G.3
  • 8
    • 23644444602 scopus 로고    scopus 로고
    • A systematic method for the sensitive and specific determination of hair lipids in combination with chromatography
    • Masukawa Y., Tsujimura H., Imokawa G. A systematic method for the sensitive and specific determination of hair lipids in combination with chromatography. J. Chromatogr. B: Anal. Technol. Biomed. Life Sci. 2005, 823(2):131-142.
    • (2005) J. Chromatogr. B: Anal. Technol. Biomed. Life Sci. , vol.823 , Issue.2 , pp. 131-142
    • Masukawa, Y.1    Tsujimura, H.2    Imokawa, G.3
  • 9
    • 0023809217 scopus 로고
    • Integral lipids of human hair
    • Wertz P.W., Downing D.T. Integral lipids of human hair. Lipids 1988, 23(9):878-881.
    • (1988) Lipids , vol.23 , Issue.9 , pp. 878-881
    • Wertz, P.W.1    Downing, D.T.2
  • 10
    • 0031804642 scopus 로고    scopus 로고
    • The activity of HMG-CoA reductase and acetyl-CoA carboxylase in human apocrine sweat glands, sebaceous glands, and hair follicles is regulated by phosphorylation and by exogenous cholesterol
    • Smythe C.D., Greenall M., Kealey T. The activity of HMG-CoA reductase and acetyl-CoA carboxylase in human apocrine sweat glands, sebaceous glands, and hair follicles is regulated by phosphorylation and by exogenous cholesterol. J. Invest. Dermatol. 1998, 111(1):139-148.
    • (1998) J. Invest. Dermatol. , vol.111 , Issue.1 , pp. 139-148
    • Smythe, C.D.1    Greenall, M.2    Kealey, T.3
  • 11
    • 0038411323 scopus 로고    scopus 로고
    • Embryonic expression of cholesterogenic genes is restricted to distinct domains and colocalizes with apoptotic regions in mice
    • Laubner D, Breitling R., Adamski J. Embryonic expression of cholesterogenic genes is restricted to distinct domains and colocalizes with apoptotic regions in mice. Brain Res. Mol. Brain Res. 2003, 115(1):87-92.
    • (2003) Brain Res. Mol. Brain Res. , vol.115 , Issue.1 , pp. 87-92
    • Laubner, D.1    Breitling, R.2    Adamski, J.3
  • 13
    • 77954762640 scopus 로고    scopus 로고
    • Origin of 7-dehydrocholesterol (Provitamin D) in the skin
    • Glossmann H.H. Origin of 7-dehydrocholesterol (Provitamin D) in the skin. J. Invest. Dermatol. 2010, 130(8):2139-2141.
    • (2010) J. Invest. Dermatol. , vol.130 , Issue.8 , pp. 2139-2141
    • Glossmann, H.H.1
  • 14
    • 20844436884 scopus 로고    scopus 로고
    • Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome
    • Rossi M., Federico G., Corso G., et al. Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. J. Inherit. Metab. Dis. 2005, 28(1):69-80.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , Issue.1 , pp. 69-80
    • Rossi, M.1    Federico, G.2    Corso, G.3
  • 15
    • 32844454617 scopus 로고    scopus 로고
    • DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis
    • Mirza R., Hayasaka S., Takagishi Y., et al. DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. J. Invest. Dermatol. 2006, 126(3):638-647.
    • (2006) J. Invest. Dermatol. , vol.126 , Issue.3 , pp. 638-647
    • Mirza, R.1    Hayasaka, S.2    Takagishi, Y.3
  • 16
    • 69849095498 scopus 로고    scopus 로고
    • Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice
    • Mirza R., Qiao S., Murata Y., Seo H. Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice. Am. J. Dermatopathol. 2009, 31(5):446-452.
    • (2009) Am. J. Dermatopathol. , vol.31 , Issue.5 , pp. 446-452
    • Mirza, R.1    Qiao, S.2    Murata, Y.3    Seo, H.4
  • 17
    • 77951092696 scopus 로고    scopus 로고
    • Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin
    • Evers B.M., Farooqi M.S., Shelton J.M., et al. Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin. J. Invest. Dermatol. 2010, 130(5):1237-1248.
    • (2010) J. Invest. Dermatol. , vol.130 , Issue.5 , pp. 1237-1248
    • Evers, B.M.1    Farooqi, M.S.2    Shelton, J.M.3
  • 18
    • 0035869221 scopus 로고    scopus 로고
    • Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
    • Wassif C.A., Zhu P., Kratz L., et al. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum. Mol. Genet. 2001, 10(6):555-564.
    • (2001) Hum. Mol. Genet. , vol.10 , Issue.6 , pp. 555-564
    • Wassif, C.A.1    Zhu, P.2    Kratz, L.3
  • 19
    • 33644769281 scopus 로고    scopus 로고
    • Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
    • Correa-Cerro L.S, Wassif C.A., Kratz L., et al. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum. Mol. Genet. 2006, 15(6):839-851.
    • (2006) Hum. Mol. Genet. , vol.15 , Issue.6 , pp. 839-851
    • Correa-Cerro, L.S.1    Wassif, C.A.2    Kratz, L.3
  • 20
    • 0025959353 scopus 로고
    • FVB/N: an inbred mouse strain preferable for transgenic analyses
    • Taketo M., Schroeder A.C., Mobraaten L.E., et al. FVB/N: an inbred mouse strain preferable for transgenic analyses. Proc. Natl. Acad. Sci. U.S.A. 1991, 88(6):2065-2069.
    • (1991) Proc. Natl. Acad. Sci. U.S.A. , vol.88 , Issue.6 , pp. 2065-2069
    • Taketo, M.1    Schroeder, A.C.2    Mobraaten, L.E.3
  • 21
    • 51249189316 scopus 로고
    • Characterization of sterols by gas chromatography-mass spectrometry of the trimethylsilyl ethers
    • Brooks C.J., Horning E.C., Young J.S. Characterization of sterols by gas chromatography-mass spectrometry of the trimethylsilyl ethers. Lipids 1968, 3(5):391-402.
    • (1968) Lipids , vol.3 , Issue.5 , pp. 391-402
    • Brooks, C.J.1    Horning, E.C.2    Young, J.S.3
  • 22
    • 0030800401 scopus 로고    scopus 로고
    • An updated look at the analysis of unsaturated C27 sterols by gas chromatography and mass spectrometry
    • Gerst N., Ruan B., Pang J., Wilson W.K., Schroepfer G.J. An updated look at the analysis of unsaturated C27 sterols by gas chromatography and mass spectrometry. J. Lipid Res. 1997, 38(8):1685-1701.
    • (1997) J. Lipid Res. , vol.38 , Issue.8 , pp. 1685-1701
    • Gerst, N.1    Ruan, B.2    Pang, J.3    Wilson, W.K.4    Schroepfer, G.J.5
  • 23
    • 0029022844 scopus 로고
    • Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
    • Kelley R.I. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin. Chim. Acta 1995, 236(1):45-58.
    • (1995) Clin. Chim. Acta , vol.236 , Issue.1 , pp. 45-58
    • Kelley, R.I.1
  • 24
    • 0001253525 scopus 로고
    • Identification of 7-dehydrocholesterol and related sterols in patients with Smith-Lemli-Opitz syndrome
    • Batta A.K, Tint G.S., Salen G., Shefer S., Irons M., Elias E.R. Identification of 7-dehydrocholesterol and related sterols in patients with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 1994, 50(4):334.
    • (1994) Am. J. Med. Genet. , vol.50 , Issue.4 , pp. 334
    • Batta, A.K.1    Tint, G.S.2    Salen, G.3    Shefer, S.4    Irons, M.5    Elias, E.R.6
  • 25
    • 0029891851 scopus 로고    scopus 로고
    • Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome
    • Wolf C., Chevy F., Pham J., et al. Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. J. Lipid Res. 1996, 37(6):1325-1333.
    • (1996) J. Lipid Res. , vol.37 , Issue.6 , pp. 1325-1333
    • Wolf, C.1    Chevy, F.2    Pham, J.3
  • 26
    • 0034984680 scopus 로고    scopus 로고
    • Sterols in blood of normal and Smith-Lemli-Opitz subjects
    • Ruan B., Wilson W.K., Pang J., et al. Sterols in blood of normal and Smith-Lemli-Opitz subjects. J. Lipid Res. 2001, 42(5):799-812.
    • (2001) J. Lipid Res. , vol.42 , Issue.5 , pp. 799-812
    • Ruan, B.1    Wilson, W.K.2    Pang, J.3
  • 27
    • 77955418150 scopus 로고    scopus 로고
    • Adaptation of cholesterol synthesis to fasting and TNF-alpha: Profiling cholesterol intermediates in the liver, brain, and testis
    • Fon Tacer K., Pompon D., Rozman D. Adaptation of cholesterol synthesis to fasting and TNF-alpha: Profiling cholesterol intermediates in the liver, brain, and testis. J. Steroid Biochem. Mol. Biol. 2010, 121(3-5):619-625.
    • (2010) J. Steroid Biochem. Mol. Biol. , vol.121 , Issue.3-5 , pp. 619-625
    • Fon Tacer, K.1    Pompon, D.2    Rozman, D.3
  • 28
    • 0020655644 scopus 로고
    • De novo sterologenesis in the intact rat
    • Feingold K.R, Wiley M.H., MacRae G., et al. De novo sterologenesis in the intact rat. Metabolism 1983, 32(1):75-81.
    • (1983) Metabolism , vol.32 , Issue.1 , pp. 75-81
    • Feingold, K.R.1    Wiley, M.H.2    MacRae, G.3
  • 29
    • 66349097798 scopus 로고    scopus 로고
    • The outer frontier: the importance of lipid metabolism in the skin
    • Feingold K.R. The outer frontier: the importance of lipid metabolism in the skin. J. Lipid Res. 2009, 50(Suppl.):S417-S422.
    • (2009) J. Lipid Res. , vol.50 , Issue.SUPPL.
    • Feingold, K.R.1
  • 30
    • 77955892968 scopus 로고    scopus 로고
    • Epidermal surface lipids
    • Pappas A. Epidermal surface lipids. Dermatoendocrinology 2009, 1(2):72-76.
    • (2009) Dermatoendocrinology , vol.1 , Issue.2 , pp. 72-76
    • Pappas, A.1
  • 31
    • 0016434912 scopus 로고
    • 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in human hair roots
    • Brannan P.G., Goldstein J.L., Brown M.S. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in human hair roots. J. Lipid Res. 1975, 16(1):7-11.
    • (1975) J. Lipid Res. , vol.16 , Issue.1 , pp. 7-11
    • Brannan, P.G.1    Goldstein, J.L.2    Brown, M.S.3
  • 32
    • 0037114662 scopus 로고    scopus 로고
    • Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay
    • Andersson H.C., Kratz L., Kelley R. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am. J. Med. Genet. 2002, 113(4):315-319.
    • (2002) Am. J. Med. Genet. , vol.113 , Issue.4 , pp. 315-319
    • Andersson, H.C.1    Kratz, L.2    Kelley, R.3
  • 33
    • 0032741860 scopus 로고    scopus 로고
    • Induction of the hair growth phase in postnatal mice by localized transient expression of Sonic hedgehog
    • Sato N., Leopold P.L., Crystal R.G. Induction of the hair growth phase in postnatal mice by localized transient expression of Sonic hedgehog. J. Clin. Invest. 1999, 104(7):855-864.
    • (1999) J. Clin. Invest. , vol.104 , Issue.7 , pp. 855-864
    • Sato, N.1    Leopold, P.L.2    Crystal, R.G.3
  • 35
    • 40049100344 scopus 로고    scopus 로고
    • Impaired skin and hair follicle development in Runx2 deficient mice
    • Glotzer D.J., Zelzer E., Olsen B.R. Impaired skin and hair follicle development in Runx2 deficient mice. Dev. Biol. 2008, 315(2):459-473.
    • (2008) Dev. Biol. , vol.315 , Issue.2 , pp. 459-473
    • Glotzer, D.J.1    Zelzer, E.2    Olsen, B.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.