Results 111 to 120 of about 23,617 (228)

Phenotype and Genotype of Portuguese Patients with Smith-Lemli-Opitz Syndrome [PDF]

, 2012
A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários ...
Bandeira, A, Cardoso, ML, Ferreira, I, Gaspar, A, Janeiro, P, Lopes, A, Lourenço, T, Marques, F, Martins, E, Nunes, L, Quelhas, D, Rodrigues, M, Rodrigues, R, Sales Marques, J, Sequeira, S, Soares, G, Venâncio, M   +16 more
core  

Perdeuteration of cholesterol for neutron scattering applications using recombinant Pichia pastoris [PDF]

, 2018
Deuteration of biomolecules has a great impact on both quality and scope of neutron scattering experiments. Cholesterol is a major component of mammalian cells, where it plays a critical role in membrane permeability, rigidity and dynamics, and ...
Adrian R. Rennie, Appolaire, Bergner, Blakeley, Braun, Browning, Campbell, Casadei, Cuypers, Cuypers, Cuypers, de Ghellinck, de Ghellinck, Diraison, Dunne, Edlich-Muth, Foglia, Fragneto, Gerelli, Gernot A. Strohmeier, Grage, Haertlein, Hagn, Harald Pichler, Haupt, Hemming, Hirz, Howard, Ibrahim, Katherine C. Thompson, Katz, Kessner, Kwon, Lee, Leitch, Lind, Maric, Maric, Marsh, Martine Moulin, Matthäus, Melanie Hirz, Micciulla, Michael Haertlein, Nelson, Rheinstädter, Richard A. Campbell, Schirò, Selma Maric, Sheridan, Small, Stockton, Thompson, Thompson, V. Trevor Forsyth, Vijayakrishnan   +55 more
core   +2 more sources

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

Journal of Lipid Research, 2006
Mice with a targeted mutation of 3β-hydroxysterol Δ7-reductase (Dhcr7) that cannot convert 7-dehydrocholesterol to cholesterol were used to identify the origin of fetal sterols.
G.S. Tint, Hongwei Yu, Quan Shang, Guorong Xu, Shailendra B. Patel   +4 more
doaj   +1 more source

Differential Effects of the Hormonal and Copper Intrauterine Device on the Endometrial Transcriptome. [PDF]

, 2020
The contraceptive effectiveness of intrauterine devices (IUDs) has been attributed in part to a foreign body reaction in the endometrium. We performed this study to better understand mechanisms of action of contraceptives of by studying their effects on ...
Averbach, Sarah, Giudice, Linda C, Houshdaran, Sahar, Seidman, Dominika, Smith-McCune, Karen, Takeda, Margaret, Thomas, Reuben   +6 more
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Characterization of a new pathway that activates lumisterol in vivo to biologically active hydroxylumisterols [PDF]

, 2017
Using LC/qTOF-MS we detected lumisterol, 20-hydroxylumisterol, 22-hydroxylumisterol, 24-hydroxylumisterol, 20,22-dihydroxylumisterol, pregnalumisterol, 17-hydroxypregnalumisterol and 17,20-dihydroxypregnalumisterol in human serum and epidermis, and the ...
A Piotrowska, A Slominski, A Slominski, A Slominski, A Slominski, A Slominski, AM Jetten, AM Jetten, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AT Slominski, AW Norman, C Skobowiat, DD Bikle, DD Bikle, GH Li, J Kallen, K Kawaguchi, K Kawaguchi, KM Dixon, M Moriyama, M Yamamoto, MA Zmijewski, MA Zmijewski, MA Zmijewski, MF Holick, MF Holick, MF Holick, MF Holick, MN Nguyen, O Guryev, PM Elias, PM Elias, RC Koya, RC Tuckey, RC Tuckey, RS Taylor, S Christakos, T Nagaoka, T Wasiewicz, T-K Kim, TK Kim, TK Kim, V Chaturvedi, W Li, WL Miller, Z Janjetovic, Z Janjetovic   +61 more
core   +3 more sources

A pan-cancer analysis of the oncogenic role of 7-dehydrocholesterol reductase (DHCR7) in human tumors

, 2022
Abstract Background: DHCR7, a switch between cholesterol and vitamin D synthesis that plays a pivotal role in tumorigenesis, is a promising therapeutic target in oncology. Despite increasing strong support for its importance, there is no pan-cancer analysis across multiple databases that can be available for in-depth data mining of the gene ...
Wumin Dai, Yongyi Chen, Wangang Gong, Ying Su, Yingli Zhang   +4 more
openaire   +1 more source

New insights into the role of cytochrome P450 reductase (POR) in microsomal redox biology

Acta Pharmaceutica Sinica B, 2012
Cytochrome P450 reductase (POR) is an essential electron transfer protein located on the endoplasmic reticulum of most cell types, and has long been appreciated for its role in cytochrome P450-mediated drug metabolism.
Todd D. Porter
doaj   +1 more source

Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. [PDF]

, 2010
Here is proposed a rapid and sensitive method involving atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) for specific laboratory screening of the Smith– Lemli–Opitz syndrome (SLOS), an inherited defect of ...
Corso G., D'Apolito O., Dello Russo A., Gelzo M., Paglia G.   +4 more
core   +1 more source

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2006
The Smith-Lemli-Opitz syndrome (SLOS) is an often lethal birth defect resulting from mutations in the gene responsible for the synthesis of the enzyme 3β-hydroxy-steroid-Δ7-reductase, which catalyzes the reduction of the double bond at carbon 7 on 7 ...
Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle   +6 more
doaj   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source