메뉴 건너뛰기




Volumn 43, Issue 1, 2012, Pages 95-106

Expression profile of NSDHL in human peripheral tissues

Author keywords

CHILD syndrome; Cholesterol biosynthesis; CK syndrome; Immunohistochemistry; In situ hybridization; NSDHL

Indexed keywords

NAD(P) STEROID DEHYDROGENASE LIKE PROTEIN; STEROID REDUCTASE; UNCLASSIFIED DRUG;

EID: 84856554133     PISSN: 15672379     EISSN: 15672387     Source Type: Journal    
DOI: 10.1007/s10735-011-9375-x     Document Type: Article
Times cited : (7)

References (28)
  • 2
    • 84856546050 scopus 로고
    • Synthesis of cholesterol in surviving liver
    • Bloch K, Borek E, Rittenberg D (1946) Synthesis of cholesterol in surviving liver. J Biol Chem 162:441-449
    • (1946) J Biol Chem , vol.162 , pp. 441-449
    • Bloch, K.1    Borek, E.2    Rittenberg, D.3
  • 4
    • 0344875023 scopus 로고    scopus 로고
    • NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets
    • DOI 10.1093/hmg/ddg321
    • Caldas H, Herman GE (2003) NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Mol Genet 12(22):2981-2991 (Pubitemid 37442026)
    • (2003) Human Molecular Genetics , vol.12 , Issue.22 , pp. 2981-2991
    • Caldas, H.1    Herman, G.E.2
  • 5
    • 11444252532 scopus 로고    scopus 로고
    • Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
    • DOI 10.1016/j.ymgme.2004.08.007, PII S1096719204002082
    • Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley RI, Herman GE (2005) Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H steroid dehydrogenase-like (NSDHL) enzyme. Mol Genet Metab 84(1):48-60 (Pubitemid 40082605)
    • (2005) Molecular Genetics and Metabolism , vol.84 , Issue.1 , pp. 48-60
    • Caldas, H.1    Cunningham, D.2    Wang, X.3    Jiang, F.4    Humphries, L.5    Kelley, R.I.6    Herman, G.E.7
  • 6
    • 77958147533 scopus 로고    scopus 로고
    • CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India
    • Chander R, Varghese B, Jabeen M, Garg T, Jain M (2010) CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. Dermatol Online J 16(8):6
    • (2010) Dermatol Online J , vol.16 , Issue.8 , pp. 6
    • Chander, R.1    Varghese, B.2    Jabeen, M.3    Garg, T.4    Jain, M.5
  • 7
    • 70350618065 scopus 로고    scopus 로고
    • Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/mouse
    • Cunningham D, Spychala K, McLarren KW, Garza LA, Boerkoel CF, Herman GE (2009) Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/mouse. Mol Genet Metab 98(4):356-366
    • (2009) Mol Genet Metab , vol.98 , Issue.4 , pp. 356-366
    • Cunningham, D.1    Spychala, K.2    McLarren, K.W.3    Garza, L.A.4    Boerkoel, C.F.5    Herman, G.E.6
  • 8
    • 77956916159 scopus 로고    scopus 로고
    • Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene
    • Danarti R, Grzeschik KH, Radiono S, Konig A, Happle R (2010) Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. Eur J Dermatol 20(5):634-635
    • (2010) Eur J Dermatol , vol.20 , Issue.5 , pp. 634-635
    • Danarti, R.1    Grzeschik, K.H.2    Radiono, S.3    Konig, A.4    Happle, R.5
  • 9
    • 0005695833 scopus 로고
    • Cholesterol synthesis by the gastrointestinal tract: Localization and mechanisms of control
    • Dietschy JM, Siperstein MD (1965) Cholesterol synthesis by the gastrointestinal tract: localization and mechanisms of control. J Clin Invest 44(8):1311-1327
    • (1965) J Clin Invest , vol.44 , Issue.8 , pp. 1311-1327
    • Dietschy, J.M.1    Siperstein, M.D.2
  • 10
    • 0014595548 scopus 로고
    • The in vitro incorporation of acetate-14C into the lipids of new born rat calvaria
    • Dirksen TR (1969) The in vitro incorporation of acetate-14C into the lipids of new born rat calvaria. Arch Biochem Biophys 134(2): 603-609
    • (1969) Arch Biochem Biophys , vol.134 , Issue.2 , pp. 603-609
    • Dirksen, T.R.1
  • 13
    • 0031727693 scopus 로고    scopus 로고
    • Gene expression screening in Xenopus identifies molecular pathways, predicts gene function and provides a global view of embryonic patterning
    • DOI 10.1016/S0925-4773(98)00115-4, PII S0925477398001154
    • Gawantka V, Pollet N, Delius H, Vingron M, Pfister R, Nitsch R, Blumenstock C, Niehrs C (1998) Gene expression screening in Xenopus identifies molecular pathways, predicts gene function and provides a global view of embryonic patterning. Mech Dev 77(2):95-141 (Pubitemid 28545165)
    • (1998) Mechanisms of Development , vol.77 , Issue.2 , pp. 95-141
    • Gawantka, V.1    Pollet, N.2    Delius, H.3    Vingron, M.4    Pfister, R.5    Nitsch, R.6    Blumenstock, C.7    Niehrs, C.8
  • 14
    • 77953245900 scopus 로고    scopus 로고
    • The group of epidermal nevus syndromes Part I. Well defined phenotypes
    • quiz 23-24
    • Happle R (2010) The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 63(1):1-22 quiz 23-24
    • (2010) J Am Acad Dermatol , vol.63 , Issue.1 , pp. 1-22
    • Happle, R.1
  • 15
    • 0018851859 scopus 로고
    • The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
    • Happle R, Koch H, Lenz W (1980) The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 134(1):27-33 (Pubitemid 10068894)
    • (1980) European Journal of Pediatrics , vol.134 , Issue.1 , pp. 27-33
    • Happle, R.1    Koch, H.2    Lenz, W.3
  • 18
    • 0033972847 scopus 로고    scopus 로고
    • Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome
    • DOI 10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2- 5
    • Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (2000) Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90(4):339-346 (Pubitemid 30084263)
    • (2000) American Journal of Medical Genetics , vol.90 , Issue.4 , pp. 339-346
    • Konig, A.1    Happle, R.2    Bornholdt, D.3    Engel, H.4    Grzeschik, K.-H.5
  • 19
    • 0036553657 scopus 로고    scopus 로고
    • A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
    • Konig A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH (2002) A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol 46(4):594-596
    • (2002) J Am Acad Dermatol , vol.46 , Issue.4 , pp. 594-596
    • Konig, A.1    Happle, R.2    Fink-Puches, R.3    Soyer, H.P.4    Bornholdt, D.5    Engel, H.6    Grzeschik, K.H.7
  • 21
    • 0038411323 scopus 로고    scopus 로고
    • Embryonic expression of cholesterogenic genes is restricted to distinct domains and colocalizes with apoptotic regions in mice
    • DOI 10.1016/S0169-328X(03)00094-9
    • Laubner D, Breitling R, Adamski J (2003) Embryonic expression of cholesterogenic genes is restricted to distinct domains and colocalizes with apoptotic regions in mice. Brain Res Mol Brain Res 115(1):87-92 (Pubitemid 36725039)
    • (2003) Molecular Brain Research , vol.115 , Issue.1 , pp. 87-92
    • Laubner, D.1    Breitling, R.2    Adamski, J.3
  • 23
    • 0142121298 scopus 로고    scopus 로고
    • Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    • DOI 10.1016/S1096-7192(03)00137-9
    • Lucas ME, Ma Q, Cunningham D, Peters J, Cattanach B, Bard M, Elmore BK, Herman GE (2003) Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol Genet Metab 80(1-2):227-233 (Pubitemid 37272249)
    • (2003) Molecular Genetics and Metabolism , vol.80 , Issue.1-2 , pp. 227-233
    • Lucas, M.E.1    Ma, Q.2    Cunningham, D.3    Peters, J.4    Cattanach, B.5    Bard, M.6    Elmore, B.K.7    Herman, G.E.8
  • 25
    • 78650909128 scopus 로고    scopus 로고
    • Malformation syndromes caused by disorders of cholesterol synthesis
    • Porter FD, Herman GE (2011) Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 52(1):6-34
    • (2011) J Lipid Res , vol.52 , Issue.1 , pp. 6-34
    • Porter, F.D.1    Herman, G.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.