Published in Steroids on August 01, 2003
Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res (2010) 1.88
Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. J Am Chem Soc (2010) 1.27
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. J Lipid Res (2011) 1.25
Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet (2005) 1.23
Cholesterol precursors and facial clefting. J Clin Invest (2006) 0.91
Smith-Lemli-Opitz syndrome. Expert Rev Mol Med (2011) 0.90
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs (2015) 0.90
Alzheimer's disease: brain desmosterol levels. J Alzheimers Dis (2013) 0.82
Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1. J Lipid Res (2014) 0.82
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. J Steroid Biochem Mol Biol (2016) 0.81
Modeling cholesterol metabolism by gene expression profiling in the hippocampus. Mol Biosyst (2011) 0.76
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. Genet Med (2009) 0.76
Cholesterolomics: An update. Anal Biochem (2017) 0.75
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. Am J Med Genet A (2016) 0.75
The 5-lipoxygenase pathway promotes pathogenesis of hyperlipidemia-dependent aortic aneurysm. Nat Med (2004) 3.34
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet (2003) 2.29
27-Hydroxycholesterol is an endogenous SERM that inhibits the cardiovascular effects of estrogen. Nat Med (2007) 2.18
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
Insig-mediated degradation of HMG CoA reductase stimulated by lanosterol, an intermediate in the synthesis of cholesterol. Cell Metab (2005) 1.99
Leukotriene B4 strongly increases monocyte chemoattractant protein-1 in human monocytes. Arterioscler Thromb Vasc Biol (2004) 1.94
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
The endogenous selective estrogen receptor modulator 27-hydroxycholesterol is a negative regulator of bone homeostasis. Endocrinology (2010) 1.74
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet (2003) 1.45
Fermentation of Propionibacterium acnes, a commensal bacterium in the human skin microbiome, as skin probiotics against methicillin-resistant Staphylococcus aureus. PLoS One (2013) 1.38
The farnesoid X receptor controls gene expression in a ligand- and promoter-selective fashion. J Biol Chem (2003) 1.35
Guggulsterone is a farnesoid X receptor antagonist in coactivator association assays but acts to enhance transcription of bile salt export pump. J Biol Chem (2003) 1.33
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab (2004) 1.30
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2005) 1.24
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). J Steroid Biochem Mol Biol (2002) 1.24
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem (2012) 1.23
NSAID sulindac and its analog bind RXRalpha and inhibit RXRalpha-dependent AKT signaling. Cancer Cell (2010) 1.22
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19
Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18
Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem (2003) 1.18
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17
Lithocholic acid decreases expression of bile salt export pump through farnesoid X receptor antagonist activity. J Biol Chem (2002) 1.14
LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth. Development (2009) 1.13
27-Hydroxycholesterol, does it exist? On the nomenclature and stereochemistry of 26-hydroxylated sterols. Steroids (2012) 1.13
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet (2006) 1.11
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10
Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am J Psychiatry (2007) 1.08
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. Steroids (2004) 1.08
Solution structure of a consensus stem-loop D RNA domain that plays important roles in regulating translation and replication in enteroviruses and rhinoviruses. Biochemistry (2004) 1.08
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med (2012) 1.08
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res (2013) 1.07
NMR of membrane proteins in micelles and bilayers: the FXYD family proteins. Methods (2007) 1.05
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet (2010) 1.05
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. J Exp Med (2006) 1.05
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2010) 1.05
Three-dimensional paper-based electrochemiluminescence immunodevice for multiplexed measurement of biomarkers and point-of-care testing. Biomaterials (2011) 1.04
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. J Cell Sci (2006) 1.04
Mutational analysis of human hydroxysteroid sulfotransferase SULT2B1 isoforms reveals that exon 1B of the SULT2B1 gene produces cholesterol sulfotransferase, whereas exon 1A yields pregnenolone sulfotransferase. J Biol Chem (2002) 1.03
Synthesis, improved antisense activity and structural rationale for the divergent RNA affinities of 3'-fluoro hexitol nucleic acid (FHNA and Ara-FHNA) modified oligonucleotides. J Am Chem Soc (2011) 1.02
Expression and localization of sterol 27-hydroxylase (CYP27A1) in monkey retina. Exp Eye Res (2006) 1.01
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One (2012) 1.00
Correlation of gene and protein structures in the FXYD family proteins. J Mol Biol (2005) 1.00
Analysis of bioactive oxysterols in newborn mouse brain by LC/MS. J Lipid Res (2012) 0.97
Staphylococcus epidermidis in the human skin microbiome mediates fermentation to inhibit the growth of Propionibacterium acnes: implications of probiotics in acne vulgaris. Appl Microbiol Biotechnol (2013) 0.96
Polyunsaturated fatty acids are FXR ligands and differentially regulate expression of FXR targets. DNA Cell Biol (2004) 0.96
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. Hum Mol Genet (2008) 0.96
Paper-based chemiluminescence ELISA: lab-on-paper based on chitosan modified paper device and wax-screen-printing. Biosens Bioelectron (2011) 0.96
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet (2007) 0.95
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). Steroids (2007) 0.95
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics (2010) 0.94
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2002) 0.93
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2013) 0.93
Extending the family of UNCG-like tetraloop motifs: NMR structure of a CACG tetraloop from coxsackievirus B3. Biochemistry (2003) 0.92
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest (2014) 0.92
NMR structures of loop B RNAs from the stem-loop IV domain of the enterovirus internal ribosome entry site: a single C to U substitution drastically changes the shape and flexibility of RNA. Biochemistry (2004) 0.92
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. Am J Med Genet A (2003) 0.92
Expression of cholesterol sulfotransferase (SULT2B1b) in human platelets. Circulation (2003) 0.92
Mycobacterium tuberculosis Rv0899 adopts a mixed alpha/beta-structure and does not form a transmembrane beta-barrel. Biochemistry (2010) 0.91
Identification of a potent synthetic FXR agonist with an unexpected mode of binding and activation. Proc Natl Acad Sci U S A (2008) 0.91
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J Inherit Metab Dis (2013) 0.91
Novel sterols synthesized via the CYP27A1 metabolic pathway. Arch Biochem Biophys (2003) 0.90
Characterization of novel selective H1-antihistamines for clinical evaluation in the treatment of insomnia. J Med Chem (2009) 0.90
Nuclear magnetic resonance structural studies of membrane proteins in micelles and bilayers. Methods Mol Biol (2007) 0.90
3D origami-based multifunction-integrated immunodevice: low-cost and multiplexed sandwich chemiluminescence immunoassay on microfluidic paper-based analytical device. Lab Chip (2012) 0.90
Specific recognition of the C-rich strand of human telomeric DNA and the RNA template of human telomerase by the first KH domain of human poly(C)-binding protein-2. J Biol Chem (2004) 0.89
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. Am J Psychiatry (2004) 0.89
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. Anesthesiology (2002) 0.88
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. Annu Rev Genomics Hum Genet (2014) 0.88
Electrochemical immunoassay on a 3D microfluidic paper-based device. Chem Commun (Camb) (2012) 0.88
Development of fluorescent probes based on protection-deprotection of the key functional groups for biological imaging. Chem Soc Rev (2015) 0.86
Stromal cells of the human postmenopausal ovary display a distinctive biochemical and molecular phenotype. J Clin Endocrinol Metab (2003) 0.86
Synthesis and antisense properties of fluoro cyclohexenyl nucleic acid (F-CeNA), a nuclease stable mimic of 2'-fluoro RNA. J Org Chem (2012) 0.86
Changes in classic and alternative pathways of bile acid synthesis in chronic liver disease. Clin Chim Acta (2007) 0.85
Human kininogen gene is transactivated by the farnesoid X receptor. J Biol Chem (2003) 0.84
Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse. BMC Dev Biol (2008) 0.84
Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep (2011) 0.84
Development of a novel deltamethrin sensor based on molecularly imprinted silica nanospheres embedded CdTe quantum dots. Spectrochim Acta A Mol Biomol Spectrosc (2011) 0.84
Paper-based three-dimensional electrochemical immunodevice based on multi-walled carbon nanotubes functionalized paper for sensitive point-of-care testing. Biosens Bioelectron (2011) 0.83
A novel label-free electrochemical aptasensor based on graphene-polyaniline composite film for dopamine determination. Biosens Bioelectron (2012) 0.83
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83
Battery-triggered microfluidic paper-based multiplex electrochemiluminescence immunodevice based on potential-resolution strategy. Lab Chip (2012) 0.82
Battery-triggered ultrasensitive electrochemiluminescence detection on microfluidic paper-based immunodevice based on dual-signal amplification strategy. Anal Chim Acta (2013) 0.82
Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue. PLoS One (2012) 0.82
Alzheimer's disease: brain desmosterol levels. J Alzheimers Dis (2013) 0.82
Application of ZnO/graphene and S6 aptamers for sensitive photoelectrochemical detection of SK-BR-3 breast cancer cells based on a disposable indium tin oxide device. Biosens Bioelectron (2013) 0.82
The amino acid residues asparagine 354 and isoleucine 372 of human farnesoid X receptor confer the receptor with high sensitivity to chenodeoxycholate. J Biol Chem (2002) 0.82
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. PLoS One (2011) 0.82
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. J Steroid Biochem Mol Biol (2010) 0.82
Autoregulation of cholesterol synthesis: physiologic and pathophysiologic consequences. Steroids (2010) 0.82
Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear (2013) 0.82
Efficient syntheses of benzothiazepines as antagonists for the mitochondrial sodium-calcium exchanger: potential therapeutics for type II diabetes. J Org Chem (2003) 0.81
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2010) 0.81
Insights from crystal structures into the opposite effects on RNA affinity caused by the S- and R-6'-methyl backbone modifications of 3'-fluoro hexitol nucleic acid. Biochemistry (2011) 0.81
Ultrasensitive electrochemical immunosensor based on Au nanoparticles dotted carbon nanotube-graphene composite and functionalized mesoporous materials. Biosens Bioelectron (2012) 0.81
A disposable paper-based electrochemical sensor with an addressable electrode array for cancer screening. Chem Commun (Camb) (2012) 0.81
BSA activated CdTe quantum dot nanosensor for antimony ion detection. Analyst (2009) 0.81
A disposable immunosensor device for point-of-care test of tumor marker based on copper-mediated amplification. Biosens Bioelectron (2012) 0.81