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Title: Mutational spectrum of Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics 20121115
Title: The RSH/'Smith-Lemli-Opitz' syndrome: historical footnote.
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Title: Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics 20121115
Title: Cytochrome P450scc-dependent metabolism of 7-dehydrocholesterol in placenta and epidermal keratinocytes.
Journal: The international journal of biochemistry & cell biology 20121101
Title: Gas chromatography-tandem mass spectrometry method for the simultaneous determination of oxysterols, plant sterols, and cholesterol precursors.
Journal: Clinical chemistry 20121101
Title: A versatile fluorescence approach to kinetic studies of hydrocarbon autoxidations and their inhibition by radical-trapping antioxidants.
Journal: Chemical communications (Cambridge, England) 20121018
Title: A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20121015
Title: Enhancement of vitamin D metabolites in the eye following vitamin D3 supplementation and UV-B irradiation.
Journal: Current eye research 20121001
Title: Mutations in the neverland gene turned Drosophila pachea into an obligate specialist species.
Journal: Science (New York, N.Y.) 20120928
Title: A new class of selective and potent 7-dehydrocholesterol reductase inhibitors.
Journal: Journal of medicinal chemistry 20120913
Title: The circadian control of skin and cutaneous photodamage.
Journal: Photochemistry and photobiology 20120901
Title: No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Journal: Journal of inherited metabolic disease 20120901
Title: Smith-Lemli-Opitz syndrome among Arabs.
Journal: Clinical genetics 20120801
Title: Amphotericin B/sterol co-loaded PEG-phospholipid micelles: effects of sterols on aggregation state and hemolytic activity of amphotericin B.
Journal: Pharmaceutical research 20120701
Title: Allelic determinants of vitamin d insufficiency, bone mineral density, and bone fractures.
Journal: The Journal of clinical endocrinology and metabolism 20120701
Title: 7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.
Journal: Biochimica et biophysica acta 20120601
Title: A further patient with van Maldergem syndrome.
Journal: European journal of medical genetics 20120601
Title: Association of serum 25-hydroxyvitamin D levels with markers for metabolic syndrome in the elderly: a repeated measure analysis.
Journal: Journal of Korean medical science 20120601
Title: Long term induction by pterostilbene results in autophagy and cellular differentiation in MCF-7 cells via ROS dependent pathway.
Journal: Molecular and cellular endocrinology 20120515
Title: Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. 'When the wine goes in, strange things come out' - S.T. Coleridge, The Piccolomini.
Journal: Journal of inherited metabolic disease 20120501
Title: Cathelicidin LL-37: an antimicrobial peptide with a role in inflammatory skin disease.
Journal: Annals of dermatology 20120501
Title: Vitamin D inhibits human immunodeficiency virus type 1 and Mycobacterium tuberculosis infection in macrophages through the induction of autophagy.
Journal: PLoS pathogens 20120501
Title: Effect on the incidence of pneumonia of vitamin D supplementation by quarterly bolus dose to infants in Kabul: a randomised controlled superiority trial.
Journal: Lancet (London, England) 20120414
Title: Differential effect of cholesterol and its biosynthetic precursors on membrane dipole potential.
Journal: Biophysical journal 20120404
Title: ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.
Journal: Genes and immunity 20120401
Title: Effects of sunlight and diet on vitamin D status of pulmonary tuberculosis patients in Tbilisi, Georgia.
Journal: Nutrition (Burbank, Los Angeles County, Calif.) 20120401
Title: A novel 3-hydroxysteroid dehydrogenase that regulates reproductive development and longevity.
Journal: PLoS biology 20120401
Title: Steroids as central regulators of organismal development and lifespan.
Journal: PLoS biology 20120401
Title: Lanosterol induces mitochondrial uncoupling and protects dopaminergic neurons from cell death in a model for Parkinson's disease.
Journal: Cell death and differentiation 20120301
Title: Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.
Journal: Human genetics 20120301
Title: Human cytochrome P450scc (CYP11A1) catalyzes epoxide formation with ergosterol.
Journal: Drug metabolism and disposition: the biological fate of chemicals 20120301
Title: DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.
Journal: Neurobiology of disease 20120301
Title: Mitochondrial oxidative stress alters a pathway in Caenorhabditis elegans strongly resembling that of bile acid biosynthesis and secretion in vertebrates.
Journal: PLoS genetics 20120301
Title: Vitamin D and its role during pregnancy in attaining optimal health of mother and fetus.
Journal: Nutrients 20120301
Title: Vitamin D and respiratory infection in adults.
Journal: The Proceedings of the Nutrition Society 20120201
Title: Serum levels of 25-hydroxyvitamin D and survival in Norwegian patients with cancer of breast, colon, lung, and lymphoma: a population-based study.
Journal: Cancer causes & control : CCC 20120201
Title: The 3-methylglutaconic acidurias: what's new?
Journal: Journal of inherited metabolic disease 20120101
Title: Solar UV doses of young Americans and vitamin D3 production.
Journal: Environmental health perspectives 20120101
Title: Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.
Journal: Lipids 20120101
Title: The Role of Vitamin D and Vitamin D Receptor in Immunity to Leishmania major Infection.
Journal: Journal of parasitology research 20120101
Title: Vitamins A & D inhibit the growth of mycobacteria in radiometric culture.
Journal: PloS one 20120101
Title: Testing in mice the hypothesis that melanin is protective in malaria infections.
Journal: PloS one 20120101
Title: Prognostic effects of 25-hydroxyvitamin D levels in gastric cancer.
Journal: Journal of translational medicine 20120101
Title: Vitamin D and allergic disease: sunlight at the end of the tunnel?
Journal: Nutrients 20120101
Title: Theobald palm and his remarkable observation: how the sunshine vitamin came to be recognized.
Journal: Nutrients 20120101
Title: Focus on vitamin D, inflammation and type 2 diabetes.
Journal: Nutrients 20120101
Title: Anti-inflammatory effects of a topical preparation containing nicotinamide, retinol, and 7-dehydrocholesterol in patients with acne: a gene expression study.
Journal: Clinical, cosmetic and investigational dermatology 20120101
Title: Vitamin D in the light of current knowledge.
Journal: Srpski arhiv za celokupno lekarstvo 20120101
Title: Reno-endocrinal disorders: A basic understanding of the molecular genetics.
Journal: Indian journal of endocrinology and metabolism 20120101
Title: Rickets-vitamin D deficiency and dependency.
Journal: Indian journal of endocrinology and metabolism 20120101
Title: Solar radiation and vitamin D: mitigating environmental factors in autoimmune disease.
Journal: Journal of environmental and public health 20120101
Title: Association between Micronutrients (Vitamin A, D, Iron) and Schistosome-Specific Cytokine Responses in Zimbabweans Exposed to Schistosoma haematobium.
Journal: Journal of parasitology research 20120101
Title: Factors Associated with Vitamin D Deficiency and Inadequacy among Women of Childbearing Age in the United States.
Journal: ISRN obstetrics and gynecology 20120101
Title: Transcriptome analysis in tardigrade species reveals specific molecular pathways for stress adaptations.
Journal: Bioinformatics and biology insights 20120101
Title: Effects of adjunct low-dose vitamin d on relapsing-remitting multiple sclerosis progression: preliminary findings of a randomized placebo-controlled trial.
Journal: Multiple sclerosis international 20120101
Title: Fibroblast growth factor-23 helps explain the biphasic cardiovascular effects of vitamin D in chronic kidney disease.
Journal: International journal of biological sciences 20120101
Title: Lipid-regulating effect of traditional chinese medicine: mechanisms of actions.
Journal: Evidence-based complementary and alternative medicine : eCAM 20120101
Title: Vitamin D: The 'sunshine' vitamin.
Journal: Journal of pharmacology & pharmacotherapeutics 20120101
Title: Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.
Journal: PloS one 20120101
Title: Polymorphisms related to the serum 25-hydroxyvitamin D level and risk of myocardial infarction, diabetes, cancer and mortality. The Tromsø Study.
Journal: PloS one 20120101
Title: Sterol intermediates of cholesterol biosynthesis inhibit hair growth and trigger an innate immune response in cicatricial alopecia.
Journal: PloS one 20120101
Title: Variants in CPT1A, FADS1, and FADS2 are Associated with Higher Levels of Estimated Plasma and Erythrocyte Delta-5 Desaturases in Alaskan Eskimos.
Journal: Frontiers in genetics 20120101
Title: Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis.
Journal: PloS one 20120101
Title: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.
Journal: Biochimica et biophysica acta 20111201
Title: Coping with time scales in disease systems analysis: application to bone remodeling.
Journal: Journal of pharmacokinetics and pharmacodynamics 20111201
Title: Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity.
Journal: PLoS pathogens 20111201
Title: Ecdysteroid metabolism in crustaceans.
Journal: The Journal of steroid biochemistry and molecular biology 20111101
Title: Seasonal variation of serum 25-hydroxyvitamin D levels in adult patients with inflammatory bowel disease.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20111101
Title: Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Journal: Molecular genetics and metabolism 20111101
Title: 7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase.
Journal: The Journal of steroid biochemistry and molecular biology 20111101
Title: Benzothiadiazole (BTH) activates sterol pathway and affects vitamin D3 metabolism in Solanum malacoxylon cell cultures.
Journal: Plant cell reports 20111101
Title: Overexpression of hedgehog signaling is associated with epidermal tumor formation in vitamin D receptor-null mice.
Journal: The Journal of investigative dermatology 20111101
Title: Adrenal function in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20111101
Title: Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.
Journal: Yonsei medical journal 20111101
Title: Biosynthesis of cholesterol and other sterols.
Journal: Chemical reviews 20111012
Title: The Rieske oxygenase DAF-36 functions as a cholesterol 7-desaturase in steroidogenic pathways governing longevity.
Journal: Aging cell 20111001
Title: Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20111001
Title: The determinants of serum vitamin D levels in participants in a melanoma case-control study living in a temperate climate.
Journal: Cancer causes & control : CCC 20111001
Title: The effects of 7-dehydrocholesterol on the structural properties of membranes.
Journal: Physical biology 20111001
Title: Circulating levels of vitamin D, vitamin D receptor polymorphisms, and colorectal adenoma: a meta-analysis.
Journal: Nutrition research and practice 20111001
Title: Immunoglobulin E receptor signaling and asthma.
Journal: The Journal of biological chemistry 20110923
Title: Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate.
Journal: The Journal of biological chemistry 20110923
Title: Structural requirements of virion-associated cholesterol for infectivity, buoyant density and apolipoprotein association of hepatitis C virus.
Journal: The Journal of general virology 20110901
Title: Vitamin D: the light side of sunshine.
Journal: European journal of clinical nutrition 20110901
Title: Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
Journal: PLoS genetics 20110901
Title: Nuclear receptor DHR4 controls the timing of steroid hormone pulses during Drosophila development.
Journal: PLoS biology 20110901
Title: Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.
Journal: The Journal of biological chemistry 20110819
Title: [Skeletal and extra-skeletal consequences of vitamin D deficiency].
Journal: Orvosi hetilap 20110814
Title: The conserved Rieske oxygenase DAF-36/Neverland is a novel cholesterol-metabolizing enzyme.
Journal: The Journal of biological chemistry 20110722
Title: Smith-Lemli-Opitz syndrome.
Journal: Expert reviews in molecular medicine 20110722
Title: Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20110701
Title: Determinants of vitamin D status: focus on genetic variations.
Journal: Current opinion in nephrology and hypertension 20110701
Title: Divergent effects of human cytomegalovirus and herpes simplex virus-1 on cellular metabolism.
Journal: PLoS pathogens 20110701
Title: An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20110601
Title: Cerebral accumulation of dietary derivable plant sterols does not interfere with memory and anxiety related behavior in Abcg5-/- mice.
Journal: Plant foods for human nutrition (Dordrecht, Netherlands) 20110601
Title: Vitamin D status in relation to glucose metabolism and type 2 diabetes in septuagenarians.
Journal: Diabetes care 20110601
Title: Vitamin d, and kidney disease.
Journal: Electrolyte & blood pressure : E & BP 20110601
Title: Environmental pathways to autoimmune diseases: the cases of primary biliary cirrhosis and multiple sclerosis.
Journal: Archives of medical science : AMS 20110601
Title: Circadian rhythm of cholesterol synthesis in mouse liver: a statistical analysis of the post-squalene metabolites in wild-type and Crem-knock-out mice.
Journal: Biochemical and biophysical research communications 20110520
Title: Vitamin D3 inhibits hedgehog signaling and proliferation in murine Basal cell carcinomas.
Journal: Cancer prevention research (Philadelphia, Pa.) 20110501
Title: Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.
Journal: Diabetes 20110501
Title: Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis.
Journal: Nature communications 20110501
Title: Prevalence of vitamin D deficiency among Turkish, Moroccan, Indian and sub-Sahara African populations in Europe and their countries of origin: an overview.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20110401
Title: Vitamin D: a hormone for all seasons.
Journal: Climacteric : the journal of the International Menopause Society 20110401
Title: Vitamin D supplementation in the pediatric rheumatology clinic.
Journal: Current rheumatology reports 20110401
Title: Vitamin D as a promising anticancer agent.
Journal: Indian journal of pharmacology 20110401
Title: Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Journal: American journal of medical genetics. Part A 20110401
Title: Ultrafast electrocyclic ring opening of 7-dehydrocholesterol in solution: the influence of solvent on excited state dynamics.
Journal: The Journal of chemical physics 20110314
Title: Sunlight exposure or vitamin D supplementation for vitamin D-deficient non-western immigrants: a randomized clinical trial.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20110301
Title: The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis.
Journal: Developmental biology 20110301
Title: Host defense against viral infection involves interferon mediated down-regulation of sterol biosynthesis.
Journal: PLoS biology 20110301
Title: Vitamin D dependent rickets type I.
Journal: Korean journal of pediatrics 20110201
Title: Vitamin D: evolutionary, physiological and health perspectives.
Journal: Current drug targets 20110101
Title: Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis.
Journal: Drug metabolism and disposition: the biological fate of chemicals 20110101
Title: Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.
Journal: Journal of medical case reports 20110101
Title: Differential gene expression in liver and small intestine from lactating rats compared to age-matched virgin controls detects increased mRNA of cholesterol biosynthetic genes.
Journal: BMC genomics 20110101
Title: Agreement of blood spot card measurements of vitamin D levels with serum, whole blood specimen types and a dietary recall instrument.
Journal: PloS one 20110101
Title: Lipid pathway alterations in Parkinson's disease primary visual cortex.
Journal: PloS one 20110101
Title: Modulation of gene expression in heart and liver of hibernating black bears (Ursus americanus).
Journal: BMC genomics 20110101
Title: The effect of light on critical illness.
Journal: Critical care (London, England) 20110101
Title: Transcriptomic analysis in a Drosophila model identifies previously implicated and novel pathways in the therapeutic mechanism in neuropsychiatric disorders.
Journal: Frontiers in neuroscience 20110101
Title: The Fruit Fly Drosophila melanogaster as a Model System to Study Cholesterol Metabolism and Homeostasis.
Journal: Cholesterol 20110101
Title: Misleading measures in Vitamin D analysis: a novel LC-MS/MS assay to account for epimers and isobars.
Journal: Nutrition journal 20110101
Title: Contribution of cholesterol and oxysterols in the physiopathology of cataract: implication for the development of pharmacological treatments.
Journal: Journal of ophthalmology 20110101
Title: Predominance of Th2 polarization by vitamin D through a STAT6-dependent mechanism.
Journal: Journal of neuroinflammation 20110101
Title: Shortcomings of vitamin D-based model simulations of seasonal influenza.
Journal: PloS one 20110101
Title: Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.
Journal: Dermato-endocrinology 20110101
Title: 1,25(OH)2D3 alters growth plate maturation and bone architecture in young rats with normal renal function.
Journal: PloS one 20110101
Title: A high protein diet during pregnancy affects hepatic gene expression of energy sensing pathways along ontogenesis in a porcine model.
Journal: PloS one 20110101
Title: Plasma concentrations of 25-hydroxyvitamin D among Jordanians: Effect of biological and habitual factors on vitamin D status.
Journal: BMC clinical pathology 20110101
Title: The hedgehog receptor patched is involved in cholesterol transport.
Journal: PloS one 20110101
Title: Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways.
Journal: PloS one 20110101
Title: Vitamin d, sunlight and prostate cancer risk.
Journal: Advances in preventive medicine 20110101
Title: Mechanism of resistance to dietary cholesterol.
Journal: Journal of lipids 20110101
Title: Enteric microbiome metabolites correlate with response to simvastatin treatment.
Journal: PloS one 20110101
Title: Expression and localization of microRNAs in perinatal rat pancreas: role of miR-21 in regulation of cholesterol metabolism.
Journal: PloS one 20110101
Title: Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.
Journal: PloS one 20110101
Title: Insight into cross-talk between intra-amoebal pathogens.
Journal: BMC genomics 20110101
Title: Model-based clustering reveals vitamin D dependent multi-centrality hubs in a network of vitamin-related proteins.
Journal: BMC systems biology 20110101
Title: Biological sensors for solar ultraviolet radiation.
Journal: Sensors (Basel, Switzerland) 20110101
Title: Genome characterization of the oleaginous fungus Mortierella alpina.
Journal: PloS one 20110101
Title: The ELBA force field for coarse-grain modeling of lipid membranes.
Journal: PloS one 20110101
Title: The influence of the optical pulse shape on excited state dynamics in provitamin D3.
Journal: Faraday discussions 20110101
Title: The human cutaneous chemokine system.
Journal: Frontiers in immunology 20110101
Title: Timing is Everything: PTTH Mediated DHR4 Nucleocytoplasmic Trafficking Sets the Tempo of Drosophila Steroid Production.
Journal: Frontiers in endocrinology 20110101
Title: Continuous-flow synthesis of vitamin D3.
Journal: Chemical communications (Cambridge, England) 20101214
Title: Vitamin D status in psoriasis patients during different treatments with phototherapy.
Journal: Journal of photochemistry and photobiology. B, Biology 20101103
Title: Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20101101
Title: Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
Journal: The Journal of steroid biochemistry and molecular biology 20101101
Title: Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Journal: The Journal of steroid biochemistry and molecular biology 20101101
Title: A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
Journal: American journal of medical genetics. Part A 20101101
Title: Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome.
Journal: Neuroscience 20101027
Title: Vitamin D status of infants in northeastern rural Bangladesh: preliminary observations and a review of potential determinants.
Journal: Journal of health, population, and nutrition 20101001
Title: [Association between vitamin D deficiency and metabolic syndrome].
Journal: Revista medica de Chile 20101001
Title: The effect of tert-butyl hydroperoxide on hepatic transcriptome expression patterns in the striped sea bream (Lithognathus mormyrus; Teleostei).
Journal: Free radical research 20100901
Title: Antipsychotic drugs regulate hedgehog signaling by modulation of 7-dehydrocholesterol reductase levels.
Journal: Molecular pharmacology 20100901
Title: New insights into the molecular mechanisms of general anaesthetics.
Journal: British journal of pharmacology 20100901
Title: Evolution of the calcium paradigm: the relation between vitamin D, serum calcium and calcium absorption.
Journal: Nutrients 20100901
Title: Adaptation of cholesterol synthesis to fasting and TNF-alpha: profiling cholesterol intermediates in the liver, brain, and testis.
Journal: The Journal of steroid biochemistry and molecular biology 20100801
Title: Origin of 7-dehydrocholesterol (provitamin D) in the skin.
Journal: The Journal of investigative dermatology 20100801
Title: Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20100801
Title: Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20100801
Title: Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20100701
Title: Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
Journal: Molecular & cellular proteomics : MCP 20100701
Title: Genome-wide association study of circulating vitamin D levels.
Journal: Human molecular genetics 20100701
Title: Circulating 25-hydroxyvitamin D and risk of pancreatic cancer: Cohort Consortium Vitamin D Pooling Project of Rarer Cancers.
Journal: American journal of epidemiology 20100701
Title: Overview of the Cohort Consortium Vitamin D Pooling Project of Rarer Cancers.
Journal: American journal of epidemiology 20100701
Title: Vitamin D and bone health: potential mechanisms.
Journal: Nutrients 20100701
Title: Influence of the nature of the sterol on the behavior of palmitic acid/sterol mixtures and their derived liposomes.
Journal: Biochimica et biophysica acta 20100601
Title: Non-molting glossy/shroud encodes a short-chain dehydrogenase/reductase that functions in the 'Black Box' of the ecdysteroid biosynthesis pathway.
Journal: Development (Cambridge, England) 20100601
Title: Low vitamin D status: definition, prevalence, consequences, and correction.
Journal: Endocrinology and metabolism clinics of North America 20100601
Title: Regulation of bile acid synthesis by fat-soluble vitamins A and D.
Journal: The Journal of biological chemistry 20100507
Title: Light, including ultraviolet.
Journal: Journal of autoimmunity 20100501
Title: Season of birth and risk for adult onset glioma.
Journal: International journal of environmental research and public health 20100501
Title: The relationship between ultraviolet radiation exposure and vitamin D status.
Journal: Nutrients 20100501
Title: Haloperidol disrupts lipid rafts and impairs insulin signaling in SH-SY5Y cells.
Journal: Neuroscience 20100428
Title: Vitamin D and human skeletal muscle.
Journal: Scandinavian journal of medicine & science in sports 20100401
Title: Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.
Journal: Human molecular genetics 20100401
Title: 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.
Journal: The Analyst 20100401
Title: Vitamin D and cardiovascular disease.
Journal: Nutrients 20100401
Title: Inverse association between serum 25(OH) vitamin D levels and non-melanoma skin cancer in elderly men.
Journal: Cancer causes & control : CCC 20100301
Title: Genetics of autistic disorders: review and clinical implications.
Journal: European child & adolescent psychiatry 20100301
Title: UV-B-triggered induction of vitamin D3 metabolism differentially affects antimicrobial peptide expression in keratinocytes.
Journal: The Journal of allergy and clinical immunology 20100301
Title: Ascorbic Acid and gene expression: another example of regulation of gene expression by small molecules?
Journal: Current genomics 20100301
Title: Vitamin D status during pregnancy and aspects of offspring health.
Journal: Nutrients 20100301
Title: Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.
Journal: Journal of the American Chemical Society 20100224
Title: Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics 20100215
Title: A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
Journal: European journal of pediatrics 20100101
Title: The effects of sterol structure upon sterol esterification.
Journal: Atherosclerosis 20100101
Title: The yin and yang of vitamin D receptor (VDR) signaling in neoplastic progression: operational networks and tissue-specific growth control.
Journal: Biochemical pharmacology 20100101
Title: Changes in cholesterol biosynthetic and transport pathways after excitotoxicity.
Journal: Journal of neurochemistry 20100101
Title: Possible Health Implications and Low Vitamin D Status during Childhood and Adolescence: An Updated Mini Review.
Journal: International journal of endocrinology 20100101
Title: Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20100101
Title: Simvastatin does not affect vitamin d status, but low vitamin d levels are associated with dyslipidemia: results from a randomised, controlled trial.
Journal: International journal of endocrinology 20100101
Title: Vitamin d levels and lipid response to atorvastatin.
Journal: International journal of endocrinology 20100101
Title: Does vitamin d deficiency cause hypertension? Current evidence from clinical studies and potential mechanisms.
Journal: International journal of endocrinology 20100101
Title: A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
Journal: Journal of Korean medical science 20100101
Title: Comparative transcriptomic analysis of follicle-enclosed oocyte maturational and developmental competence acquisition in two non-mammalian vertebrates.
Journal: BMC genomics 20100101
Title: Is the action spectrum for the UV-induced production of previtamin D3 in human skin correct?
Journal: Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology 20100101
Title: Temperature increase prevails over acidification in gene expression modulation of amastigote differentiation in Leishmania infantum.
Journal: BMC genomics 20100101
Title: Vitamin D metabolism.
Journal: Dermatologic therapy 20100101
Title: Analyzing adherence to prenatal supplement: does pill count measure up?
Journal: International journal of endocrinology 20100101
Title: Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.
Journal: Advances in experimental medicine and biology 20100101
Title: Alterations in the homeostasis of phospholipids and cholesterol by antitumor alkylphospholipids.
Journal: Lipids in health and disease 20100101
Title: Products of vitamin D3 or 7-dehydrocholesterol metabolism by cytochrome P450scc show anti-leukemia effects, having low or absent calcemic activity.
Journal: PloS one 20100101
Title: Increases in summer serum 25-hydroxyvitamin D (25OHD) concentrations in elderly subjects in São Paulo, Brazil vary with age, gender and ethnicity.
Journal: BMC endocrine disorders 20100101
Title: Cholesterol induces specific spatial and orientational order in cholesterol/phospholipid membranes.
Journal: PloS one 20100101
Title: Can preening contribute to influenza A virus infection in wild waterbirds?
Journal: PloS one 20100101
Title: Quantifying the vitamin D3 synthesizing potential of UVB lamps at specific distances over time.
Journal: Zoo biology 20100101
Title: Vitamin D in combination cancer treatment.
Journal: Journal of Cancer 20100101
Title: Fall prevention and vitamin D in the elderly: an overview of the key role of the non-bone effects.
Journal: Journal of neuroengineering and rehabilitation 20100101
Title: Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.
Journal: Critical care (London, England) 20100101
Title: A systematic review of the role of vitamin insufficiencies and supplementation in COPD.
Journal: Respiratory research 20100101
Title: Vitamin D in health and disease: current perspectives.
Journal: Nutrition journal 20100101
Title: Complex and multidimensional lipid raft alterations in a murine model of Alzheimer's disease.
Journal: International journal of Alzheimer's disease 20100101
Title: A novel statistical algorithm for gene expression analysis helps differentiate pregnane X receptor-dependent and independent mechanisms of toxicity.
Journal: PloS one 20100101
Title: Oxidative damage in lymphocytes of copper smelter workers correlated to higher levels of excreted arsenic.
Journal: Mediators of inflammation 20100101
Title: [The role of cholesterol in embryogenesis and the Smith-Lemli-Opitzov syndrom].
Journal: Ceskoslovenska fysiologie 20100101
Title: Role of vitamin d in the prevention of pancreatic cancer.
Journal: Journal of nutrition and metabolism 20100101
Title: Laboratory aspects relating to the detection and prevention of frailty.
Journal: International journal of preventive medicine 20100101
Title: A Comparative Study of 25 (OH) Vitamin D Serum Levels in Patients with Multiple Sclerosis and Control Group in Isfahan, Iran.
Journal: International journal of preventive medicine 20100101
Title: Authors' Reply to: Comment on 'In vitro model of vitamin D(3) (cholecalciferol) synthesis by UV radiation: Dose-response relationships' by W.J. Olds, A.R. McKinley, M.R. Moore and M.G. Kimlin, J. Photochem. Photobiol. B: Biol. 93 (2008) 88-93.
Journal: Journal of photochemistry and photobiology. B, Biology 20091202
Title: Vitamin D, a neuro-immunomodulator: implications for neurodegenerative and autoimmune diseases.
Journal: Psychoneuroendocrinology 20091201
Title: Studies on the Black Box: incorporation of 3-oxo-7-dehydrocholesterol into ecdysteroids by Drosophila melanogaster and Manduca sexta.
Journal: Insect biochemistry and molecular biology 20091001
Title: [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].
Journal: Zeitschrift fur Geburtshilfe und Neonatologie 20091001
Title: Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes.
Journal: Journal of the American Chemical Society 20090916
Title: A (13)C solid-state NMR analysis of vitamin D compounds.
Journal: Solid state nuclear magnetic resonance 20090901
Title: Expression of 25-hydroxyvitamin D-1alpha-hydroxylase (1alphaOHase, CYP27B1) splice variants in HaCaT keratinocytes and other skin cells: modulation by culture conditions and UV-B treatment in vitro.
Journal: Anticancer research 20090901
Title: REV-ERBalpha participates in circadian SREBP signaling and bile acid homeostasis.
Journal: PLoS biology 20090901
Title: A population-based cohort study on sun habits and endometrial cancer.
Journal: British journal of cancer 20090804
Title: Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Journal: The Journal of steroid biochemistry and molecular biology 20090801
Title: Severe osteomalacia presenting with multiple vertebral fractures: a case report and review of the literature.
Journal: Endocrine 20090801
Title: Increased levels of 25 hydroxyvitamin D and 1,25-dihydroxyvitamin D after rosuvastatin treatment: a novel pleiotropic effect of statins?
Journal: Cardiovascular drugs and therapy 20090801
Title: Development of a new isotopically labeled internal standard for ergosterol measurement by GC/MS.
Journal: Journal of environmental monitoring : JEM 20090801
Title: Combined gas chromatographic/mass spectrometric analysis of cholesterol precursors and plant sterols in cultured cells.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20090715
Title: Light-activated molecular conductivity in the photoreactions of vitamin D3.
Journal: The journal of physical chemistry. A 20090618
Title: NRIF is a regulator of neuronal cholesterol biosynthesis genes.
Journal: Journal of molecular neuroscience : MN 20090601
Title: Age-dependent increase in desmosterol restores DRM formation and membrane-related functions in cholesterol-free DHCR24-/- mice.
Journal: Neurochemical research 20090601
Title: Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.
Journal: Pediatric research 20090601
Title: Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
Journal: American journal of medical genetics. Part A 20090601
Title: Comment on 'In vitro model of vitamin D(3) (cholecalciferol) synthesis by UV radiation: dose-response relationships' by W.J. Olds, A.R. McKinley, M.R. Moore and M.G. Kimlin, J. Photochem. Photobiol. B: Biol. 93 (2008) 88-93.
Journal: Journal of photochemistry and photobiology. B, Biology 20090504
Title: Identification of an overabundant cholesterol precursor in hepatitis B virus replicating cells by untargeted lipid metabolite profiling.
Journal: Journal of the American Chemical Society 20090415
Title: Molecular consequences of altered neuronal cholesterol biosynthesis.
Journal: Journal of neuroscience research 20090301
Title: Social approach in genetically engineered mouse lines relevant to autism.
Journal: Genes, brain, and behavior 20090301
Title: Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Journal: General physiology and biophysics 20090301
Title: Role of the vitamin D3 pathway in healthy and diseased skin--facts, contradictions and hypotheses.
Journal: Experimental dermatology 20090201
Title: Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.
Journal: PLoS genetics 20090201
Title: Drosophila melanogaster as a model organism of brain diseases.
Journal: International journal of molecular sciences 20090201
Title: Proteomic analysis of the sterol-mediated signaling pathway in Caenorhabditis elegans.
Journal: Methods in molecular biology (Clifton, N.J.) 20090101
Title: Sequential metabolism of 7-dehydrocholesterol to steroidal 5,7-dienes in adrenal glands and its biological implication in the skin.
Journal: PloS one 20090101
Title: Regulation of clock-controlled genes in mammals.
Journal: PloS one 20090101
Title: Evidence that the intra-amoebal Legionella drancourtii acquired a sterol reductase gene from eukaryotes.
Journal: BMC research notes 20090101
Title: Influence of the cystic fibrosis transmembrane conductance regulator on expression of lipid metabolism-related genes in dendritic cells.
Journal: Respiratory research 20090101
Title: Smoothened adopts multiple active and inactive conformations capable of trafficking to the primary cilium.
Journal: PloS one 20090101
Title: Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.
Journal: PathoGenetics 20090101
Title: Osteomalacia and vitamin D deficiency in a psychiatric rehabilitation unit: case report and survey.
Journal: BMC research notes 20090101
Title: VITA-D: cholecalciferol substitution in vitamin D deficient kidney transplant recipients: a randomized, placebo-controlled study to evaluate the post-transplant outcome.
Journal: Trials 20090101
Title: Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis.
Journal: PloS one 20090101
Title: 20-Hydroxycholecalciferol, product of vitamin D3 hydroxylation by P450scc, decreases NF-kappaB activity by increasing IkappaB alpha levels in human keratinocytes.
Journal: PloS one 20090101
Title: Pigmentation and vitamin D metabolism in Caucasians: low vitamin D serum levels in fair skin types in the UK.
Journal: PloS one 20090101
Title: Discovery of novel genetic networks associated with 19 economically important traits in beef cattle.
Journal: International journal of biological sciences 20090101
Title: Asthma and genes encoding components of the vitamin D pathway.
Journal: Respiratory research 20090101
Title: Seasonal genetic influence on serum 25-hydroxyvitamin D levels: a twin study.
Journal: PloS one 20090101
Title: Recent advances in the pathogenesis of syndromic autisms.
Journal: International journal of pediatrics 20090101
Title: Estradiol stimulates vasodilatory and metabolic pathways in cultured human endothelial cells.
Journal: PloS one 20090101
Title: Epithelial Cell Gene Expression Induced by Intracellular Staphylococcus aureus.
Journal: International journal of microbiology 20090101
Title: Vitamin D deficiency, atherosclerosis and cancer.
Journal: Bratislavske lekarske listy 20090101
Title: Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.
Journal: Journal of inherited metabolic disease 20081201
Title: Revisiting oocyte-somatic cell interactions: in search of novel intrafollicular predictors and regulators of oocyte developmental competence.
Journal: Molecular human reproduction 20081201
Title: Short-term fatty acid intervention elicits differential gene expression responses in adipose tissue from lean and overweight men.
Journal: Genes & nutrition 20081201
Title: Microsomal antiestrogen-binding site ligands induce growth control and differentiation of human breast cancer cells through the modulation of cholesterol metabolism.
Journal: Molecular cancer therapeutics 20081201
Title: In vitro model of vitamin D3 (cholecalciferol) synthesis by UV radiation: dose-response relationships.
Journal: Journal of photochemistry and photobiology. B, Biology 20081113
Title: Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.
Journal: Fertility and sterility 20081101
Title: Comparison of cholesterol and its direct precursors along the biosynthetic pathway: effects of cholesterol, desmosterol and 7-dehydrocholesterol on saturated and unsaturated lipid bilayers.
Journal: The Journal of chemical physics 20081021
Title: Gas chromatographic-mass spectrometric analyses of cholesterol and its precursors in rat plasma as tert-butyldimethylsilyl derivatives.
Journal: Clinica chimica acta; international journal of clinical chemistry 20081001
Title: Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development.
Journal: Journal of pediatric hematology/oncology 20080901
Title: Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
Journal: Journal of pediatric hematology/oncology 20080901
Title: The use of calcium and vitamin D in the management of osteoporosis.
Journal: Therapeutics and clinical risk management 20080801
Title: Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20080701
Title: Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome.
Journal: Biochimica et biophysica acta 20080601
Title: Clinical challenges in the management of osteoporosis.
Journal: Clinical interventions in aging 20080601
Title: Differential effects of cholesterol and its immediate biosynthetic precursors on membrane organization.
Journal: Biochemistry 20080520
Title: Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Journal: European journal of human genetics : EJHG 20080501
Title: Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Journal: Journal of medical genetics 20080401
Title: Discovery and progress in our understanding of the regulated secretory pathway in neuroendocrine cells.
Journal: Histochemistry and cell biology 20080301
Title: Oxysterols: novel biologic roles for the 21st century.
Journal: Steroids 20080201
Title: Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 20080101
Title: Neuroimmune mechanisms in patients with atopic dermatitis during chronic stress.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV 20080101
Title: Osteomalacia in an HIV-infected man receiving rifabutin, a cytochrome P450 enzyme inducer: a case report.
Journal: Annals of clinical microbiology and antimicrobials 20080101
Title: Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
Journal: European journal of medical genetics 20080101
Title: Daphnia Halloween genes that encode cytochrome P450s mediating the synthesis of the arthropod molting hormone: evolutionary implications.
Journal: BMC evolutionary biology 20080101
Title: Altered expression patterns of lipid metabolism genes in an animal model of HCV core-related, nonobese, modest hepatic steatosis.
Journal: BMC genomics 20080101
Title: Sunlight, UV-radiation, vitamin D and skin cancer: how much sunlight do we need?
Journal: Advances in experimental medicine and biology 20080101
Title: Transcriptome analysis reveals new insight into appressorium formation and function in the rice blast fungus Magnaporthe oryzae.
Journal: Genome biology 20080101
Title: Functional genomics reveals increases in cholesterol biosynthetic genes and highly unsaturated fatty acid biosynthesis after dietary substitution of fish oil with vegetable oils in Atlantic salmon (Salmo salar).
Journal: BMC genomics 20080101
Title: Chlamydial genes shed light on the evolution of photoautotrophic eukaryotes.
Journal: BMC evolutionary biology 20080101
Title: An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases.
Journal: BMC developmental biology 20080101
Title: Histone deacetylase inhibitors: a new mode for inhibition of cholesterol metabolism.
Journal: BMC genomics 20080101
Title: Dynamical modeling of the cholesterol regulatory pathway with Boolean networks.
Journal: BMC systems biology 20080101
Title: The Hedgehog protein family.
Journal: Genome biology 20080101
Title: Influenza and ultraviolet germicidal irradiation.
Journal: Virology journal 20080101
Title: Vitamin D or hormone D deficiency in autoimmune rheumatic diseases, including undifferentiated connective tissue disease.
Journal: Arthritis research & therapy 20080101
Title: Determination of key intermediates in cholesterol and bile acid biosynthesis by stable isotope dilution mass spectrometry.
Journal: Analytical chemistry insights 20080101
Title: Vitamin D and skin physiology: a D-lightful story.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20071201
Title: Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS.
Journal: Biochemical and biophysical research communications 20071123
Title: Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.
Journal: Journal of perinatology : official journal of the California Perinatal Association 20071101
Title: Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
Journal: Journal of inherited metabolic disease 20071101
Title: Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
Journal: Journal of child neurology 20071101
Title: Expression and p75 neurotrophin receptor dependence of cholesterol synthetic enzymes in adult mouse brain.
Journal: Neurobiology of aging 20071001
Title: Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Journal: Steroids 20071001
Title: UVB therapy increases 25(OH) vitamin D syntheses in postmenopausal women with psoriasis.
Journal: Photodermatology, photoimmunology & photomedicine 20071001
Title: Plasma vitamin D and risk of colorectal cancer: the Japan Public Health Center-Based Prospective Study.
Journal: British journal of cancer 20070806
Title: Role of sterol type on lateral pressure profiles of lipid membranes affecting membrane protein functionality: Comparison between cholesterol, desmosterol, 7-dehydrocholesterol and ketosterol.
Journal: Journal of structural biology 20070801
Title: De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
Journal: American journal of medical genetics. Part A 20070801
Title: The high prevalence of vitamin D insufficiency across Australian populations is only partly explained by season and latitude.
Journal: Environmental health perspectives 20070801
Title: Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
Journal: Prenatal diagnosis 20070701
Title: Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS.
Journal: Biochemical and biophysical research communications 20070629
Title: Inhibition of poly(adenosine diphosphate-ribose) polymerase by the active form of vitamin D.
Journal: International journal of molecular medicine 20070601
Title: Oxysterols: functional significance in fetal development and the maintenance of normal retinal function.
Journal: Current opinion in lipidology 20070601
Title: Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Journal: Journal of inherited metabolic disease 20070601
Title: Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.
Journal: Molecular genetics and metabolism 20070501
Title: Factors that influence the cutaneous synthesis and dietary sources of vitamin D.
Journal: Archives of biochemistry and biophysics 20070415
Title: Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.
Journal: Journal of inherited metabolic disease 20070401
Title: Effects of Atorvastatin on vitamin D levels in patients with acute ischemic heart disease.
Journal: The American journal of cardiology 20070401
Title: Cholesterol starvation induces differentiation of human leukemia HL-60 cells.
Journal: Cancer research 20070401
Title: Prevention of prion propagation by dehydrocholesterol reductase inhibitors in cultured cells and a therapeutic trial in mice.
Journal: Biological & pharmaceutical bulletin 20070401
Title: Photoprotection by 1,25 dihydroxyvitamin D3 is associated with an increase in p53 and a decrease in nitric oxide products.
Journal: The Journal of investigative dermatology 20070301
Title: In vivo relevance for photoprotection by the vitamin D rapid response pathway.
Journal: The Journal of steroid biochemistry and molecular biology 20070301
Title: Reintroduction of a classic vitamin D ultraviolet source.
Journal: The Journal of steroid biochemistry and molecular biology 20070301
Title: Wavelength-dependent induction of CYP24A1-mRNA after UVB-triggered calcitriol synthesis in cultured human keratinocytes.
Journal: The Journal of investigative dermatology 20070101
Title: Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.
Journal: BMC developmental biology 20070101
Title: Vitamin D inadequacy in Belgian postmenopausal osteoporotic women.
Journal: BMC public health 20070101
Title: Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer.
Journal: BMC cancer 20070101
Title: Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism.
Journal: Bioinformation 20070101
Title: 7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: roles of NADPH oxidase, mitochondria, and lipid rafts.
Journal: Free radical biology & medicine 20061201
Title: Retinoids in the treatment of skin aging: an overview of clinical efficacy and safety.
Journal: Clinical interventions in aging 20061201
Title: Dermal fibroblasts pretreated with a sterol Delta7-reductase inhibitor produce 25-hydroxyvitamin D3 upon UVB irradiation.
Journal: Journal of photochemistry and photobiology. B, Biology 20061002
Title: Steroid structural requirements for interaction of ostreolysin, a lipid-raft binding cytolysin, with lipid monolayers and bilayers.
Journal: Biochimica et biophysica acta 20061001
Title: DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
Journal: American journal of medical genetics. Part A 20061001
Title: A dual role for 7-dehydrocholesterol reductase in regulating Hedgehog signalling?
Journal: Development (Cambridge, England) 20061001
Title: [Smith-Lemli-Opitz syndrome].
Journal: Nihon rinsho. Japanese journal of clinical medicine 20060928
Title: UVB-induced 1,25(OH)2D3 production and vitamin D activity in intestinal CaCo-2 cells and in THP-1 macrophages pretreated with a sterol Delta7-reductase inhibitor.
Journal: Journal of cellular biochemistry 20060901
Title: Initial studies on an in vivo action spectrum for melanoma induction.
Journal: Progress in biophysics and molecular biology 20060901
Title: Who, what, where and when-influences on cutaneous vitamin D synthesis.
Journal: Progress in biophysics and molecular biology 20060901
Title: Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Journal: Birth defects research. Part A, Clinical and molecular teratology 20060901
Title: Cholesterol precursors stabilize ordinary and ceramide-rich ordered lipid domains (lipid rafts) to different degrees. Implications for the Bloch hypothesis and sterol biosynthesis disorders.
Journal: The Journal of biological chemistry 20060804
Title: Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists 20060801
Title: Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion.
Journal: PLoS biology 20060801
Title: Vitamin D deficiency: A global perspective.
Journal: Arquivos brasileiros de endocrinologia e metabologia 20060801
Title: Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.
Journal: Free radical biology & medicine 20060715
Title: The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols.
Journal: Journal of lipid research 20060701
Title: Neverland is an evolutionally conserved Rieske-domain protein that is essential for ecdysone synthesis and insect growth.
Journal: Development (Cambridge, England) 20060701
Title: Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.
Journal: Biochemical and biophysical research communications 20060623
Title: A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation.
Journal: American journal of physiology. Gastrointestinal and liver physiology 20060601
Title: Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase.
Journal: Development (Cambridge, England) 20060601
Title: UVB-induced production of 1,25-dihydroxyvitamin D3 and vitamin D activity in human keratinocytes pretreated with a sterol delta7-reductase inhibitor.
Journal: Journal of cellular biochemistry 20060501
Title: Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.
Journal: Journal of cell science 20060501
Title: Oxidation of cholesterol by a biomimetic oxidant, cetyltrimethylammonium dichromate.
Journal: The Journal of organic chemistry 20060428
Title: Hormonal control of C. elegans dauer formation and life span by a Rieske-like oxygenase.
Journal: Developmental cell 20060401
Title: Nystatin-induced lipid vesicles permeabilization is strongly dependent on sterol structure.
Journal: Biochimica et biophysica acta 20060401
Title: Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Journal: Human molecular genetics 20060315
Title: Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.
Journal: Experimental eye research 20060301
Title: Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.
Journal: Experimental eye research 20060301
Title: Dietary approaches that delay age-related diseases.
Journal: Clinical interventions in aging 20060301
Title: Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome.
Journal: Free radical biology & medicine 20060215
Title: Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Journal: Pediatrics 20060201
Title: A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20060101
Title: Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
Journal: Clinical genetics 20060101
Title: SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
Journal: European journal of medical genetics 20060101
Title: Burn-induced bone loss: importance, mechanisms, and management.
Journal: Journal of burns and wounds 20060101
Title: Drug-induced activation of SREBP-controlled lipogenic gene expression in CNS-related cell lines: marked differences between various antipsychotic drugs.
Journal: BMC neuroscience 20060101
Title: Female Iberian wall lizards prefer male scents that signal a better cell-mediated immune response.
Journal: Biology letters 20051222
Title: Recent insights into the Smith-Lemli-Opitz syndrome.
Journal: Clinical genetics 20051101
Title: A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis.
Journal: Development (Cambridge, England) 20051101
Title: Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.
Journal: Prenatal diagnosis 20051101
Title: Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience 20051026
Title: Cholesterol biosynthesis and the pro-apoptotic effects of the p75 nerve growth factor receptor in PC12 pheochromocytoma cells.
Journal: Brain research. Molecular brain research 20051003
Title: Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
Journal: The British journal of dermatology 20051001
Title: Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
Journal: American journal of medical genetics. Part A 20050915
Title: Season of diagnosis is a prognostic factor in Hodgkin's lymphoma: a possible role of sun-induced vitamin D.
Journal: British journal of cancer 20050905
Title: Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Journal: Birth defects research. Part A, Clinical and molecular teratology 20050801
Title: Enzymatic metabolism of ergosterol by cytochrome p450scc to biologically active 17alpha,24-dihydroxyergosterol.
Journal: Chemistry & biology 20050801
Title: DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
Journal: American journal of medical genetics. Part A 20050730
Title: A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study.
Journal: Chemistry and physics of lipids 20050701
Title: Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
Journal: Human mutation 20050701
Title: Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Journal: Molecular genetics and metabolism 20050701
Title: Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells.
Journal: Molecular endocrinology (Baltimore, Md.) 20050601
Title: Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
Journal: Molecular genetics and metabolism 20050601
Title: Methylation of CpG islands in the rat 7-dehydrocholesterol reductase promoter suppresses transcriptional activation.
Journal: Molecules and cells 20050430
Title: Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression.
Journal: Brain research. Developmental brain research 20050421
Title: Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Journal: Human mutation 20050401
Title: DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
Journal: Journal of medical genetics 20050401
Title: SNAIL vs vitamin D receptor expression in colon cancer: therapeutics implications.
Journal: British journal of cancer 20050328
Title: Cholesterol-producing transgenic Caenorhabditis elegans lives longer due to newly acquired enhanced stress resistance.
Journal: Biochemical and biophysical research communications 20050325
Title: 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Journal: Molecular genetics and metabolism 20050201
Title: Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Journal: American journal of medical genetics. Part A 20050115
Title: Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
Journal: Journal of inherited metabolic disease 20050101
Title: Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.
Journal: Journal of inherited metabolic disease 20050101
Title: R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Journal: Journal of human genetics 20050101
Title: The vitamin D3 pathway in human skin and its role for regulation of biological processes.
Journal: Photochemistry and photobiology 20050101
Title: Differential gene expression in anatomical compartments of the human eye.
Journal: Genome biology 20050101
Title: Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.
Journal: Developmental neuroscience 20050101
Title: A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
Journal: Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 20050101
Title: Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
Journal: Journal of inherited metabolic disease 20050101
Title: DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
Journal: Clinical genetics 20041201
Title: Alpha-tocopherol affects androgen metabolism in male rat.
Journal: Annals of the New York Academy of Sciences 20041201
Title: Lovastatin exacerbates atypical absence seizures with only minimal effects on brain sterols.
Journal: Journal of lipid research 20041101
Title: Long-term effects of sterol depletion in C. elegans: sterol content of synchronized wild-type and mutant populations.
Journal: Journal of lipid research 20041101
Title: Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
Journal: Pediatric research 20041101
Title: A novel pathway for sequential transformation of 7-dehydrocholesterol and expression of the P450scc system in mammalian skin.
Journal: European journal of biochemistry 20041101
Title: Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers.
Journal: The American journal of psychiatry 20041101
Title: Enzyme blockade: a nonradioactive method to determine the absolute rate of cholesterol synthesis in the brain.
Journal: Journal of lipid research 20041001
Title: Sterol-derived hormone(s) controls entry into diapause in Caenorhabditis elegans by consecutive activation of DAF-12 and DAF-16.
Journal: PLoS biology 20041001
Title: Molecular characterization of the microsomal tamoxifen binding site.
Journal: The Journal of biological chemistry 20040806
Title: Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
Journal: Journal of medical genetics 20040801
Title: Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.
Journal: Archives of ophthalmology (Chicago, Ill. : 1960) 20040801
Title: [Vitamin D: synthesis, metabolism, regulation, and an assessment of its deficiency in patients with chronic renal disease].
Journal: Vnitrni lekarstvi 20040701
Title: [New relevance of vitamin D3 metabolism in the skin].
Journal: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 20040501
Title: Role for tumor necrosis factor-alpha in UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in cultured keratinocytes.
Journal: The Journal of steroid biochemistry and molecular biology 20040501
Title: Dietary alpha-tocopherol affects differential gene expression in rat testes.
Journal: IUBMB life 20040501
Title: DD-RT-PCR identifies 7-dehydrocholesterol reductase as a key marker of early Leydig cell steroidogenesis.
Journal: Molecular and cellular endocrinology 20040430
Title: Investigation of completed suicide and genes involved in cholesterol metabolism.
Journal: Journal of affective disorders 20040401
Title: Effect of sterols on beta-amyloid peptide (AbetaP 1-40) channel formation and their properties in planar lipid membranes.
Journal: Biophysical journal 20040401
Title: [DNA microarray reveals changes in gene expression of endothelial cells under shear stress].
Journal: Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi 20040401
Title: Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20040301
Title: A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
Journal: Biochemical and biophysical research communications 20040227
Title: Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.
Journal: Journal of lipid research 20040201
Title: Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
Journal: American journal of medical genetics. Part A 20040201
Title: Effect of clothing varieties on solar photosynthesis of previtamin D3: an in vitro study.
Journal: Photodermatology, photoimmunology & photomedicine 20040201
Title: Synthesis of vitamin D in skin after burns.
Journal: Lancet (London, England) 20040124
Title: MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
Journal: Neuroradiology 20040101
Title: The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production.
Journal: Steroids 20040101
Title: Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome.
Journal: BMC developmental biology 20040101
Title: Normal human epidermal keratinocytes treated with 7-dehydrocholesterol express increased levels of heat shock protein.
Journal: Journal of cosmetic science 20040101
Title: Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Journal: Molecular genetics and metabolism 20040101
Title: Vitamin D and skin: new aspects for dermatology.
Journal: Experimental dermatology 20040101
Title: Identification of natural ligands of retinoic acid receptor-related orphan receptor alpha ligand-binding domain expressed in Sf9 cells--a mass spectrometry approach.
Journal: Analytical biochemistry 20031201
Title: Novel sterols synthesized via the CYP27A1 metabolic pathway.
Journal: Archives of biochemistry and biophysics 20031201
Title: Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20031201
Title: Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
Journal: American journal of medical genetics. Part A 20031115
Title: Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.
Journal: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 20031001
Title: What controls variation in human skin color?
Journal: PLoS biology 20031001
Title: Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics. Part A 20030915
Title: Versatile photosensitization system for 1O2-mediated oxidation of alkenes based on nafion-supported platinum(II) terpyridyl acetylide complex.
Journal: Organic letters 20030904
Title: 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.
Journal: Steroids 20030801
Title: Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Journal: Human molecular genetics 20030701
Title: Susceptibilities of phospholipid vesicles containing different sterols to amphotericin B-loaded lysophosphatidylcholine micelles.
Journal: Journal of biochemistry 20030701
Title: Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Journal: Annals of human genetics 20030501
Title: Yeast-like symbiotes as a sterol source in anobiid beetles (Coleoptera, Anobiidae): possible metabolic pathways from fungal sterols to 7-dehydrocholesterol.
Journal: Archives of insect biochemistry and physiology 20030401
Title: Demonstration of UVB-induced synthesis of 1 alpha,25-dihydroxyvitamin D3 (calcitriol) in human skin by microdialysis.
Journal: Archives of dermatological research 20030401
Title: Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
Journal: Birth defects research. Part A, Clinical and molecular teratology 20030301
Title: Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
Journal: American journal of medical genetics. Part A 20030130
Title: Protein prenyltransferases.
Journal: Genome biology 20030101
Title: Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 20030101
Title: [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 20030101
Title: Chemical and photolytical transformation of biomedically significant compounds in the presence of deuterated solvents.
Journal: Journal of photochemistry and photobiology. B, Biology 20030101
Title: Smith-Lemli-Opitz syndrome: a review, case report and dental implications.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 20030101
Title: Extrarenal sites of calcitriol synthesis: the particular role of the skin.
Journal: Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer 20030101
Title: Simvastatin treatment in the SLO syndrome: a safe approach?
Journal: American journal of medical genetics 20021122
Title: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
Journal: American journal of human genetics 20021001
Title: Ternary gradient elution markedly improves silver-ion high performance liquid chromatography of unsaturated sterols.
Journal: Steroids 20021001
Title: Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion.
Journal: Journal of lipid research 20021001
Title: Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome.
Journal: Journal of internal medicine 20021001
Title: Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.
Journal: American journal of medical genetics 20020901
Title: Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
Journal: Prenatal diagnosis 20020901
Title: Stimulative effects of (22E,24R)-ergosta-7,22-diene-3beta,5alpha,6beta-triol from fruiting bodies of Tricholoma auratum, on a mouse osteoblastic cell line, MC3T3-E1.
Journal: Biological & pharmaceutical bulletin 20020801
Title: Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
Journal: Molecular and cellular probes 20020801
Title: Cholesterol induce oligomerization of Vibrio vulnificus cytolysin specifically.
Journal: Experimental & molecular medicine 20020731
Title: Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Journal: American journal of medical genetics 20020715
Title: Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
Journal: American journal of medical genetics 20020615
Title: Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene.
Journal: Biochimica et biophysica acta 20020607
Title: Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
Journal: Journal of medical genetics 20020601
Title: A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.
Journal: Chemistry and physics of lipids 20020501
Title: Reductive metabolism of an alpha,beta-ketoalkyne, 4-phenyl-3-butyn-2-one, by rat liver preparations.
Journal: Drug metabolism and disposition: the biological fate of chemicals 20020401
Title: Influence of simvastatin, pravastatin, and BM 15.766 on neutral sterols in liver and testis of guinea pigs.
Journal: Metabolism: clinical and experimental 20020401
Title: Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
Journal: Molecular genetics and metabolism 20020401
Title: Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
Journal: American journal of medical genetics 20020215
Title: Developmental sensitivity of associative learning to cholesterol synthesis inhibitors.
Journal: Behavioural brain research 20020201
Title: Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20020125
Title: Brain sterols in the AY-9944 rat model of atypical absence seizures.
Journal: Epilepsia 20020101
Title: Cholesterol and development: the RSH ('Smith-Lemli-Opitz') syndrome and related conditions.
Journal: Pediatric pathology & molecular medicine 20020101
Title: Evolution of UV-B regulation and protection in plants.
Journal: Advances in space research : the official journal of the Committee on Space Research (COSPAR) 20020101
Title: DHCR7 and Smith-Lemli-Opitz syndrome.
Journal: Clinical and investigative medicine. Medecine clinique et experimentale 20011201
Title: A little cholesterol in time...
Journal: Clinical and investigative medicine. Medecine clinique et experimentale 20011201
Title: UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in an in vitro human skin equivalent model.
Journal: The Journal of investigative dermatology 20011101
Title: Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics 20011101
Title: Molecular cloning and structural analysis of human sterol C5 desaturase.
Journal: Biochimica et biophysica acta 20011031
Title: Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics 20011015
Title: A cholesterol-lowering drug reduces beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease.
Journal: Neurobiology of disease 20011001
Title: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis.
Journal: Cancer letters 20010920
Title: 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Journal: The Journal of clinical investigation 20010915
Title: Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
Journal: American journal of medical genetics 20010915
Title: Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, and ceramide.
Journal: The Journal of biological chemistry 20010907
Title: Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics 20010901
Title: Provitamins and vitamins D₂and D₃in Cladina spp. over a latitudinal gradient: possible correlation with UV levels.
Journal: Journal of photochemistry and photobiology. B, Biology 20010901
Title: Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
Journal: American journal of medical genetics 20010722
Title: Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.
Journal: American journal of medical genetics 20010722
Title: Woc (without children) gene control of ecdysone biosynthesis in Drosophila melanogaster.
Journal: Molecular and cellular endocrinology 20010705
Title: The interactions of amphotericin B with various sterols in relation to its possible use in anticancer therapy.
Journal: Biophysical chemistry 20010702
Title: [Smith-Lemli-Opitz syndrome].
Journal: Anales espanoles de pediatria 20010701
Title: Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis.
Journal: Journal of lipid research 20010701
Title: [Relationship between changes in skin lipids by ultraviolet exposure and the cell toxicity].
Journal: Nihon eiseigaku zasshi. Japanese journal of hygiene 20010701
Title: The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
Journal: Clinical genetics 20010601
Title: Cholesterol biosynthesis from lanosterol. A concerted role for Sp1 and NF-Y-binding sites for sterol-mediated regulation of rat 7-dehydrocholesterol reductase gene expression.
Journal: The Journal of biological chemistry 20010525
Title: Observations on serum 25-hydroxyvitamin D and calcium concentrations from wild-caught and captive neotropical bats, Artibeus jamaicensis.
Journal: General and comparative endocrinology 20010501
Title: Effects of treatment with deoxycholic acid and chenodeoxycholic acid on the hepatic synthesis of cholesterol and bile acids in healthy subjects.
Journal: Hepatology (Baltimore, Md.) 20010501
Title: Sterols in blood of normal and Smith-Lemli-Opitz subjects.
Journal: Journal of lipid research 20010501
Title: Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
Journal: Annals of human genetics 20010501
Title: DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
Journal: American journal of medical genetics 20010422
Title: Comparative behavior of sterols in phosphatidylcholine-sterol monolayer films.
Journal: Biochimica et biophysica acta 20010402
Title: Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Journal: Human molecular genetics 20010315
Title: Mutations in the human DHCR7 gene.
Journal: Human mutation 20010301
Title: Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
Journal: Journal of lipid research 20010301
Title: Cholesterol favors phase separation of sphingomyelin.
Journal: Biophysical chemistry 20010215
Title: Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists 20010201
Title: Deuterated delta 7-cholestenol analogues as mechanistic probes for wild-type and mutated delta 7-sterol-C5(6)-desaturase.
Journal: Biochemistry 20010109
Title: Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Journal: Molecular genetics and metabolism 20010101
Title: Fatty acid steryl, stanyl, and steroid esters by esterification and transesterification in vacuo using Candida rugosa lipase as catalyst.
Journal: Journal of agricultural and food chemistry 20010101
Title: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Journal: European journal of human genetics : EJHG 20010101
Title: Inborn errors of sterol biosynthesis.
Journal: Annual review of genomics and human genetics 20010101
Title: Sterol methyltransferase 1 controls the level of cholesterol in plants.
Journal: The Plant cell 20000601
Title: Cholesterol 7alpha-hydroxylase. 2. Biochemical properties and participation of endogenous cholesterol in the assay in vitro.
Journal: European journal of biochemistry 19750616
Title: Xu L, et al. Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies. J Am Chem Soc. 2010 Feb 24;132(7):2222-32.
