Gas chromatography-tandem mass spectrometry method for the simultaneous determination of oxysterols, plant sterols, and cholesterol precursors.

Clinical chemistry 20121101

A versatile fluorescence approach to kinetic studies of hydrocarbon autoxidations and their inhibition by radical-trapping antioxidants.

Chemical communications (Cambridge, England) 20121018

A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20121015

Enhancement of vitamin D metabolites in the eye following vitamin D3 supplementation and UV-B irradiation.

Current eye research 20121001

Mutations in the neverland gene turned Drosophila pachea into an obligate specialist species.

Science (New York, N.Y.) 20120928

A new class of selective and potent 7-dehydrocholesterol reductase inhibitors.

Journal of medicinal chemistry 20120913

The circadian control of skin and cutaneous photodamage.

Photochemistry and photobiology 20120901

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Journal of inherited metabolic disease 20120901

Smith-Lemli-Opitz syndrome among Arabs.

Clinical genetics 20120801

Amphotericin B/sterol co-loaded PEG-phospholipid micelles: effects of sterols on aggregation state and hemolytic activity of amphotericin B.

Pharmaceutical research 20120701

Allelic determinants of vitamin d insufficiency, bone mineral density, and bone fractures.

The Journal of clinical endocrinology and metabolism 20120701

7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.

Biochimica et biophysica acta 20120601

A further patient with van Maldergem syndrome.

European journal of medical genetics 20120601

Association of serum 25-hydroxyvitamin D levels with markers for metabolic syndrome in the elderly: a repeated measure analysis.

Journal of Korean medical science 20120601

Long term induction by pterostilbene results in autophagy and cellular differentiation in MCF-7 cells via ROS dependent pathway.

Molecular and cellular endocrinology 20120515

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 of inherited metabolic disease 20120501

Cathelicidin LL-37: an antimicrobial peptide with a role in inflammatory skin disease.

Annals of dermatology 20120501

Vitamin D inhibits human immunodeficiency virus type 1 and Mycobacterium tuberculosis infection in macrophages through the induction of autophagy.

PLoS pathogens 20120501

Effect on the incidence of pneumonia of vitamin D supplementation by quarterly bolus dose to infants in Kabul: a randomised controlled superiority trial.

Lancet (London, England) 20120414

Differential effect of cholesterol and its biosynthetic precursors on membrane dipole potential.

Biophysical journal 20120404

ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.

Genes and immunity 20120401

Effects of sunlight and diet on vitamin D status of pulmonary tuberculosis patients in Tbilisi, Georgia.

Nutrition (Burbank, Los Angeles County, Calif.) 20120401

A novel 3-hydroxysteroid dehydrogenase that regulates reproductive development and longevity.

PLoS biology 20120401

Steroids as central regulators of organismal development and lifespan.

PLoS biology 20120401

Lanosterol induces mitochondrial uncoupling and protects dopaminergic neurons from cell death in a model for Parkinson's disease.

Cell death and differentiation 20120301

Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.

Human genetics 20120301

Human cytochrome P450scc (CYP11A1) catalyzes epoxide formation with ergosterol.

Drug metabolism and disposition: the biological fate of chemicals 20120301

DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.

Neurobiology of disease 20120301

Mitochondrial oxidative stress alters a pathway in Caenorhabditis elegans strongly resembling that of bile acid biosynthesis and secretion in vertebrates.

PLoS genetics 20120301

Vitamin D and its role during pregnancy in attaining optimal health of mother and fetus.

Nutrients 20120301

Vitamin D and respiratory infection in adults.

The Proceedings of the Nutrition Society 20120201

Serum levels of 25-hydroxyvitamin D and survival in Norwegian patients with cancer of breast, colon, lung, and lymphoma: a population-based study.

Cancer causes & control : CCC 20120201

The 3-methylglutaconic acidurias: what's new?

Journal of inherited metabolic disease 20120101

Solar UV doses of young Americans and vitamin D3 production.

Environmental health perspectives 20120101

Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.

Lipids 20120101

The Role of Vitamin D and Vitamin D Receptor in Immunity to Leishmania major Infection.

Journal of parasitology research 20120101

Vitamins A & D inhibit the growth of mycobacteria in radiometric culture.

PloS one 20120101

Testing in mice the hypothesis that melanin is protective in malaria infections.

PloS one 20120101

Prognostic effects of 25-hydroxyvitamin D levels in gastric cancer.

Journal of translational medicine 20120101

Vitamin D and allergic disease: sunlight at the end of the tunnel?

Nutrients 20120101

Theobald palm and his remarkable observation: how the sunshine vitamin came to be recognized.

Nutrients 20120101

Focus on vitamin D, inflammation and type 2 diabetes.

Nutrients 20120101

Anti-inflammatory effects of a topical preparation containing nicotinamide, retinol, and 7-dehydrocholesterol in patients with acne: a gene expression study.

Clinical, cosmetic and investigational dermatology 20120101

Vitamin D in the light of current knowledge.

Srpski arhiv za celokupno lekarstvo 20120101

Reno-endocrinal disorders: A basic understanding of the molecular genetics.

Indian journal of endocrinology and metabolism 20120101

Rickets-vitamin D deficiency and dependency.

Indian journal of endocrinology and metabolism 20120101

Solar radiation and vitamin D: mitigating environmental factors in autoimmune disease.

Journal of environmental and public health 20120101

Association between Micronutrients (Vitamin A, D, Iron) and Schistosome-Specific Cytokine Responses in Zimbabweans Exposed to Schistosoma haematobium.

Journal of parasitology research 20120101

Factors Associated with Vitamin D Deficiency and Inadequacy among Women of Childbearing Age in the United States.

ISRN obstetrics and gynecology 20120101

Transcriptome analysis in tardigrade species reveals specific molecular pathways for stress adaptations.

Bioinformatics and biology insights 20120101

Effects of adjunct low-dose vitamin d on relapsing-remitting multiple sclerosis progression: preliminary findings of a randomized placebo-controlled trial.

Multiple sclerosis international 20120101

Fibroblast growth factor-23 helps explain the biphasic cardiovascular effects of vitamin D in chronic kidney disease.

International journal of biological sciences 20120101

Lipid-regulating effect of traditional chinese medicine: mechanisms of actions.

Evidence-based complementary and alternative medicine : eCAM 20120101

Vitamin D: The 'sunshine' vitamin.

Journal of pharmacology & pharmacotherapeutics 20120101

Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

PloS one 20120101

Polymorphisms related to the serum 25-hydroxyvitamin D level and risk of myocardial infarction, diabetes, cancer and mortality. The Tromsø Study.

PloS one 20120101

Sterol intermediates of cholesterol biosynthesis inhibit hair growth and trigger an innate immune response in cicatricial alopecia.

PloS one 20120101

Variants in CPT1A, FADS1, and FADS2 are Associated with Higher Levels of Estimated Plasma and Erythrocyte Delta-5 Desaturases in Alaskan Eskimos.

Frontiers in genetics 20120101

Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis.

PloS one 20120101

Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.

Biochimica et biophysica acta 20111201

Coping with time scales in disease systems analysis: application to bone remodeling.

Journal of pharmacokinetics and pharmacodynamics 20111201

Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity.

PLoS pathogens 20111201

Ecdysteroid metabolism in crustaceans.

The Journal of steroid biochemistry and molecular biology 20111101

Seasonal variation of serum 25-hydroxyvitamin D levels in adult patients with inflammatory bowel disease.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20111101

Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism 20111101

7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase.

The Journal of steroid biochemistry and molecular biology 20111101

Benzothiadiazole (BTH) activates sterol pathway and affects vitamin D3 metabolism in Solanum malacoxylon cell cultures.

Plant cell reports 20111101

Overexpression of hedgehog signaling is associated with epidermal tumor formation in vitamin D receptor-null mice.

The Journal of investigative dermatology 20111101

Adrenal function in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20111101

Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.

Yonsei medical journal 20111101

Biosynthesis of cholesterol and other sterols.

Chemical reviews 20111012

The Rieske oxygenase DAF-36 functions as a cholesterol 7-desaturase in steroidogenic pathways governing longevity.

Aging cell 20111001

Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome.

Journal of lipid research 20111001

The determinants of serum vitamin D levels in participants in a melanoma case-control study living in a temperate climate.

Cancer causes & control : CCC 20111001

The effects of 7-dehydrocholesterol on the structural properties of membranes.

Physical biology 20111001

Circulating levels of vitamin D, vitamin D receptor polymorphisms, and colorectal adenoma: a meta-analysis.

Nutrition research and practice 20111001

Immunoglobulin E receptor signaling and asthma.

The Journal of biological chemistry 20110923

Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate.

The Journal of biological chemistry 20110923

Structural requirements of virion-associated cholesterol for infectivity, buoyant density and apolipoprotein association of hepatitis C virus.

The Journal of general virology 20110901

Vitamin D: the light side of sunshine.

European journal of clinical nutrition 20110901

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

PLoS genetics 20110901

Nuclear receptor DHR4 controls the timing of steroid hormone pulses during Drosophila development.

PLoS biology 20110901

Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.

The Journal of biological chemistry 20110819

[Skeletal and extra-skeletal consequences of vitamin D deficiency].

Orvosi hetilap 20110814

The conserved Rieske oxygenase DAF-36/Neverland is a novel cholesterol-metabolizing enzyme.

The Journal of biological chemistry 20110722

Smith-Lemli-Opitz syndrome.

Expert reviews in molecular medicine 20110722

Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20110701

Determinants of vitamin D status: focus on genetic variations.

Current opinion in nephrology and hypertension 20110701

Divergent effects of human cytomegalovirus and herpes simplex virus-1 on cellular metabolism.

PLoS pathogens 20110701

An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.

Journal of lipid research 20110601

Cerebral accumulation of dietary derivable plant sterols does not interfere with memory and anxiety related behavior in Abcg5-/- mice.

Plant foods for human nutrition (Dordrecht, Netherlands) 20110601

Vitamin D status in relation to glucose metabolism and type 2 diabetes in septuagenarians.

Diabetes care 20110601

Vitamin d, and kidney disease.

Electrolyte & blood pressure : E & BP 20110601

Environmental pathways to autoimmune diseases: the cases of primary biliary cirrhosis and multiple sclerosis.

Archives of medical science : AMS 20110601

Circadian rhythm of cholesterol synthesis in mouse liver: a statistical analysis of the post-squalene metabolites in wild-type and Crem-knock-out mice.

Biochemical and biophysical research communications 20110520

Vitamin D3 inhibits hedgehog signaling and proliferation in murine Basal cell carcinomas.

Cancer prevention research (Philadelphia, Pa.) 20110501

Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.

Diabetes 20110501

Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis.

Nature communications 20110501

Prevalence of vitamin D deficiency among Turkish, Moroccan, Indian and sub-Sahara African populations in Europe and their countries of origin: an overview.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20110401

Vitamin D: a hormone for all seasons.

Climacteric : the journal of the International Menopause Society 20110401

Vitamin D supplementation in the pediatric rheumatology clinic.

Current rheumatology reports 20110401

Vitamin D as a promising anticancer agent.

Indian journal of pharmacology 20110401

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

American journal of medical genetics. Part A 20110401

Ultrafast electrocyclic ring opening of 7-dehydrocholesterol in solution: the influence of solvent on excited state dynamics.

The Journal of chemical physics 20110314

Sunlight exposure or vitamin D supplementation for vitamin D-deficient non-western immigrants: a randomized clinical trial.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20110301

The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis.

Developmental biology 20110301

Host defense against viral infection involves interferon mediated down-regulation of sterol biosynthesis.

PLoS biology 20110301

Vitamin D dependent rickets type I.

Korean journal of pediatrics 20110201

Vitamin D: evolutionary, physiological and health perspectives.

Current drug targets 20110101

Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis.

Drug metabolism and disposition: the biological fate of chemicals 20110101

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

Journal of medical case reports 20110101

Differential gene expression in liver and small intestine from lactating rats compared to age-matched virgin controls detects increased mRNA of cholesterol biosynthetic genes.

BMC genomics 20110101

Agreement of blood spot card measurements of vitamin D levels with serum, whole blood specimen types and a dietary recall instrument.

PloS one 20110101

Lipid pathway alterations in Parkinson's disease primary visual cortex.

PloS one 20110101

Modulation of gene expression in heart and liver of hibernating black bears (Ursus americanus).

BMC genomics 20110101

The effect of light on critical illness.

Critical care (London, England) 20110101

Transcriptomic analysis in a Drosophila model identifies previously implicated and novel pathways in the therapeutic mechanism in neuropsychiatric disorders.

Frontiers in neuroscience 20110101

The Fruit Fly Drosophila melanogaster as a Model System to Study Cholesterol Metabolism and Homeostasis.

Cholesterol 20110101

Misleading measures in Vitamin D analysis: a novel LC-MS/MS assay to account for epimers and isobars.

Nutrition journal 20110101

Contribution of cholesterol and oxysterols in the physiopathology of cataract: implication for the development of pharmacological treatments.

Journal of ophthalmology 20110101

Predominance of Th2 polarization by vitamin D through a STAT6-dependent mechanism.

Journal of neuroinflammation 20110101

Shortcomings of vitamin D-based model simulations of seasonal influenza.

PloS one 20110101

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.

Dermato-endocrinology 20110101

1,25(OH)2D3 alters growth plate maturation and bone architecture in young rats with normal renal function.

PloS one 20110101

A high protein diet during pregnancy affects hepatic gene expression of energy sensing pathways along ontogenesis in a porcine model.

PloS one 20110101

Plasma concentrations of 25-hydroxyvitamin D among Jordanians: Effect of biological and habitual factors on vitamin D status.

BMC clinical pathology 20110101

The hedgehog receptor patched is involved in cholesterol transport.

PloS one 20110101

Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways.

PloS one 20110101

Vitamin d, sunlight and prostate cancer risk.

Advances in preventive medicine 20110101

Mechanism of resistance to dietary cholesterol.

Journal of lipids 20110101

Enteric microbiome metabolites correlate with response to simvastatin treatment.

PloS one 20110101

Expression and localization of microRNAs in perinatal rat pancreas: role of miR-21 in regulation of cholesterol metabolism.

PloS one 20110101

Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.

PloS one 20110101

Insight into cross-talk between intra-amoebal pathogens.

BMC genomics 20110101

Model-based clustering reveals vitamin D dependent multi-centrality hubs in a network of vitamin-related proteins.

BMC systems biology 20110101

Biological sensors for solar ultraviolet radiation.

Sensors (Basel, Switzerland) 20110101

Genome characterization of the oleaginous fungus Mortierella alpina.

PloS one 20110101

The ELBA force field for coarse-grain modeling of lipid membranes.

PloS one 20110101

The influence of the optical pulse shape on excited state dynamics in provitamin D3.

Faraday discussions 20110101

The human cutaneous chemokine system.

Frontiers in immunology 20110101

Timing is Everything: PTTH Mediated DHR4 Nucleocytoplasmic Trafficking Sets the Tempo of Drosophila Steroid Production.

Frontiers in endocrinology 20110101

Continuous-flow synthesis of vitamin D3.

Chemical communications (Cambridge, England) 20101214

Vitamin D status in psoriasis patients during different treatments with phototherapy.

Journal of photochemistry and photobiology. B, Biology 20101103

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.

Journal of lipid research 20101101

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.

The Journal of steroid biochemistry and molecular biology 20101101

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

The Journal of steroid biochemistry and molecular biology 20101101

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

American journal of medical genetics. Part A 20101101

Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome.

Neuroscience 20101027

Vitamin D status of infants in northeastern rural Bangladesh: preliminary observations and a review of potential determinants.

Journal of health, population, and nutrition 20101001

[Association between vitamin D deficiency and metabolic syndrome].

Revista medica de Chile 20101001

The effect of tert-butyl hydroperoxide on hepatic transcriptome expression patterns in the striped sea bream (Lithognathus mormyrus; Teleostei).

Free radical research 20100901

Antipsychotic drugs regulate hedgehog signaling by modulation of 7-dehydrocholesterol reductase levels.

Molecular pharmacology 20100901

New insights into the molecular mechanisms of general anaesthetics.

British journal of pharmacology 20100901

Evolution of the calcium paradigm: the relation between vitamin D, serum calcium and calcium absorption.

Nutrients 20100901

Adaptation of cholesterol synthesis to fasting and TNF-alpha: profiling cholesterol intermediates in the liver, brain, and testis.

The Journal of steroid biochemistry and molecular biology 20100801

Origin of 7-dehydrocholesterol (provitamin D) in the skin.

The Journal of investigative dermatology 20100801

Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20100801

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20100801

Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome.

Journal of lipid research 20100701

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.

Molecular & cellular proteomics : MCP 20100701

Genome-wide association study of circulating vitamin D levels.

Human molecular genetics 20100701

Circulating 25-hydroxyvitamin D and risk of pancreatic cancer: Cohort Consortium Vitamin D Pooling Project of Rarer Cancers.

American journal of epidemiology 20100701

Overview of the Cohort Consortium Vitamin D Pooling Project of Rarer Cancers.

American journal of epidemiology 20100701

Vitamin D and bone health: potential mechanisms.

Nutrients 20100701

Influence of the nature of the sterol on the behavior of palmitic acid/sterol mixtures and their derived liposomes.

Biochimica et biophysica acta 20100601

Non-molting glossy/shroud encodes a short-chain dehydrogenase/reductase that functions in the 'Black Box' of the ecdysteroid biosynthesis pathway.

Development (Cambridge, England) 20100601

Low vitamin D status: definition, prevalence, consequences, and correction.

Endocrinology and metabolism clinics of North America 20100601

Regulation of bile acid synthesis by fat-soluble vitamins A and D.

The Journal of biological chemistry 20100507

Light, including ultraviolet.

Journal of autoimmunity 20100501

Season of birth and risk for adult onset glioma.

International journal of environmental research and public health 20100501

The relationship between ultraviolet radiation exposure and vitamin D status.

Nutrients 20100501

Haloperidol disrupts lipid rafts and impairs insulin signaling in SH-SY5Y cells.

Neuroscience 20100428

Vitamin D and human skeletal muscle.

Scandinavian journal of medicine & science in sports 20100401

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

Human molecular genetics 20100401

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.

The Analyst 20100401

Vitamin D and cardiovascular disease.

Nutrients 20100401

Inverse association between serum 25(OH) vitamin D levels and non-melanoma skin cancer in elderly men.

Cancer causes & control : CCC 20100301

Genetics of autistic disorders: review and clinical implications.

European child & adolescent psychiatry 20100301

UV-B-triggered induction of vitamin D3 metabolism differentially affects antimicrobial peptide expression in keratinocytes.

The Journal of allergy and clinical immunology 20100301

Ascorbic Acid and gene expression: another example of regulation of gene expression by small molecules?

Current genomics 20100301

Vitamin D status during pregnancy and aspects of offspring health.

Nutrients 20100301

Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.

Journal of the American Chemical Society 20100224

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

American journal of medical genetics. Part C, Seminars in medical genetics 20100215

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.

European journal of pediatrics 20100101

The effects of sterol structure upon sterol esterification.

Atherosclerosis 20100101

The yin and yang of vitamin D receptor (VDR) signaling in neoplastic progression: operational networks and tissue-specific growth control.

Biochemical pharmacology 20100101

Changes in cholesterol biosynthetic and transport pathways after excitotoxicity.

Journal of neurochemistry 20100101

Possible Health Implications and Low Vitamin D Status during Childhood and Adolescence: An Updated Mini Review.

International journal of endocrinology 20100101

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20100101

Simvastatin does not affect vitamin d status, but low vitamin d levels are associated with dyslipidemia: results from a randomised, controlled trial.

International journal of endocrinology 20100101

Vitamin d levels and lipid response to atorvastatin.

International journal of endocrinology 20100101

Does vitamin d deficiency cause hypertension? Current evidence from clinical studies and potential mechanisms.

International journal of endocrinology 20100101

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Journal of Korean medical science 20100101

Comparative transcriptomic analysis of follicle-enclosed oocyte maturational and developmental competence acquisition in two non-mammalian vertebrates.

BMC genomics 20100101

Is the action spectrum for the UV-induced production of previtamin D3 in human skin correct?

Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology 20100101

Temperature increase prevails over acidification in gene expression modulation of amastigote differentiation in Leishmania infantum.

BMC genomics 20100101

Vitamin D metabolism.

Dermatologic therapy 20100101

Analyzing adherence to prenatal supplement: does pill count measure up?

International journal of endocrinology 20100101

Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.

Advances in experimental medicine and biology 20100101

Alterations in the homeostasis of phospholipids and cholesterol by antitumor alkylphospholipids.

Lipids in health and disease 20100101

Products of vitamin D3 or 7-dehydrocholesterol metabolism by cytochrome P450scc show anti-leukemia effects, having low or absent calcemic activity.

PloS one 20100101

Increases in summer serum 25-hydroxyvitamin D (25OHD) concentrations in elderly subjects in São Paulo, Brazil vary with age, gender and ethnicity.

BMC endocrine disorders 20100101

Cholesterol induces specific spatial and orientational order in cholesterol/phospholipid membranes.

PloS one 20100101

Can preening contribute to influenza A virus infection in wild waterbirds?

PloS one 20100101

Quantifying the vitamin D3 synthesizing potential of UVB lamps at specific distances over time.

Zoo biology 20100101

Vitamin D in combination cancer treatment.

Journal of Cancer 20100101

Fall prevention and vitamin D in the elderly: an overview of the key role of the non-bone effects.

Journal of neuroengineering and rehabilitation 20100101

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.

Critical care (London, England) 20100101

A systematic review of the role of vitamin insufficiencies and supplementation in COPD.

Respiratory research 20100101

Vitamin D in health and disease: current perspectives.

Nutrition journal 20100101

Complex and multidimensional lipid raft alterations in a murine model of Alzheimer's disease.

International journal of Alzheimer's disease 20100101

A novel statistical algorithm for gene expression analysis helps differentiate pregnane X receptor-dependent and independent mechanisms of toxicity.

PloS one 20100101

Oxidative damage in lymphocytes of copper smelter workers correlated to higher levels of excreted arsenic.

Mediators of inflammation 20100101

[The role of cholesterol in embryogenesis and the Smith-Lemli-Opitzov syndrom].

Ceskoslovenska fysiologie 20100101

Role of vitamin d in the prevention of pancreatic cancer.

Journal of nutrition and metabolism 20100101

Laboratory aspects relating to the detection and prevention of frailty.

International journal of preventive medicine 20100101

A Comparative Study of 25 (OH) Vitamin D Serum Levels in Patients with Multiple Sclerosis and Control Group in Isfahan, Iran.

International journal of preventive medicine 20100101

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 of photochemistry and photobiology. B, Biology 20091202

Vitamin D, a neuro-immunomodulator: implications for neurodegenerative and autoimmune diseases.

Psychoneuroendocrinology 20091201

Studies on the Black Box: incorporation of 3-oxo-7-dehydrocholesterol into ecdysteroids by Drosophila melanogaster and Manduca sexta.

Insect biochemistry and molecular biology 20091001

[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].

Zeitschrift fur Geburtshilfe und Neonatologie 20091001

Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes.

Journal of the American Chemical Society 20090916

A (13)C solid-state NMR analysis of vitamin D compounds.

Solid state nuclear magnetic resonance 20090901

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.

Anticancer research 20090901

REV-ERBalpha participates in circadian SREBP signaling and bile acid homeostasis.

PLoS biology 20090901

A population-based cohort study on sun habits and endometrial cancer.

British journal of cancer 20090804

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.

The Journal of steroid biochemistry and molecular biology 20090801

Severe osteomalacia presenting with multiple vertebral fractures: a case report and review of the literature.

Endocrine 20090801

Increased levels of 25 hydroxyvitamin D and 1,25-dihydroxyvitamin D after rosuvastatin treatment: a novel pleiotropic effect of statins?

Cardiovascular drugs and therapy 20090801

Development of a new isotopically labeled internal standard for ergosterol measurement by GC/MS.

Journal of environmental monitoring : JEM 20090801

Combined gas chromatographic/mass spectrometric analysis of cholesterol precursors and plant sterols in cultured cells.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20090715

Light-activated molecular conductivity in the photoreactions of vitamin D3.

The journal of physical chemistry. A 20090618

NRIF is a regulator of neuronal cholesterol biosynthesis genes.

Journal of molecular neuroscience : MN 20090601

Age-dependent increase in desmosterol restores DRM formation and membrane-related functions in cholesterol-free DHCR24-/- mice.

Neurochemical research 20090601

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.

Pediatric research 20090601

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.

American journal of medical genetics. Part A 20090601

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 of photochemistry and photobiology. B, Biology 20090504

Identification of an overabundant cholesterol precursor in hepatitis B virus replicating cells by untargeted lipid metabolite profiling.

Journal of the American Chemical Society 20090415

Molecular consequences of altered neuronal cholesterol biosynthesis.

Journal of neuroscience research 20090301

Social approach in genetically engineered mouse lines relevant to autism.

Genes, brain, and behavior 20090301

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

General physiology and biophysics 20090301

Role of the vitamin D3 pathway in healthy and diseased skin--facts, contradictions and hypotheses.

Experimental dermatology 20090201

Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.

PLoS genetics 20090201

Drosophila melanogaster as a model organism of brain diseases.

International journal of molecular sciences 20090201

Proteomic analysis of the sterol-mediated signaling pathway in Caenorhabditis elegans.

Methods in molecular biology (Clifton, N.J.) 20090101

Sequential metabolism of 7-dehydrocholesterol to steroidal 5,7-dienes in adrenal glands and its biological implication in the skin.

PloS one 20090101

Regulation of clock-controlled genes in mammals.

PloS one 20090101

Evidence that the intra-amoebal Legionella drancourtii acquired a sterol reductase gene from eukaryotes.

BMC research notes 20090101

Influence of the cystic fibrosis transmembrane conductance regulator on expression of lipid metabolism-related genes in dendritic cells.

Respiratory research 20090101

Smoothened adopts multiple active and inactive conformations capable of trafficking to the primary cilium.

PloS one 20090101

Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

PathoGenetics 20090101

Osteomalacia and vitamin D deficiency in a psychiatric rehabilitation unit: case report and survey.

BMC research notes 20090101

VITA-D: cholecalciferol substitution in vitamin D deficient kidney transplant recipients: a randomized, placebo-controlled study to evaluate the post-transplant outcome.

Trials 20090101

Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis.

PloS one 20090101

20-Hydroxycholecalciferol, product of vitamin D3 hydroxylation by P450scc, decreases NF-kappaB activity by increasing IkappaB alpha levels in human keratinocytes.

PloS one 20090101

Pigmentation and vitamin D metabolism in Caucasians: low vitamin D serum levels in fair skin types in the UK.

PloS one 20090101

Discovery of novel genetic networks associated with 19 economically important traits in beef cattle.

International journal of biological sciences 20090101

Asthma and genes encoding components of the vitamin D pathway.

Respiratory research 20090101

Seasonal genetic influence on serum 25-hydroxyvitamin D levels: a twin study.

PloS one 20090101

Recent advances in the pathogenesis of syndromic autisms.

International journal of pediatrics 20090101

Estradiol stimulates vasodilatory and metabolic pathways in cultured human endothelial cells.

PloS one 20090101

Epithelial Cell Gene Expression Induced by Intracellular Staphylococcus aureus.

International journal of microbiology 20090101

Vitamin D deficiency, atherosclerosis and cancer.

Bratislavske lekarske listy 20090101

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.

Journal of inherited metabolic disease 20081201

Revisiting oocyte-somatic cell interactions: in search of novel intrafollicular predictors and regulators of oocyte developmental competence.

Molecular human reproduction 20081201

Short-term fatty acid intervention elicits differential gene expression responses in adipose tissue from lean and overweight men.

Genes & nutrition 20081201

Microsomal antiestrogen-binding site ligands induce growth control and differentiation of human breast cancer cells through the modulation of cholesterol metabolism.

Molecular cancer therapeutics 20081201

In vitro model of vitamin D3 (cholecalciferol) synthesis by UV radiation: dose-response relationships.

Journal of photochemistry and photobiology. B, Biology 20081113

Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.

Fertility and sterility 20081101

Comparison of cholesterol and its direct precursors along the biosynthetic pathway: effects of cholesterol, desmosterol and 7-dehydrocholesterol on saturated and unsaturated lipid bilayers.

The Journal of chemical physics 20081021

Gas chromatographic-mass spectrometric analyses of cholesterol and its precursors in rat plasma as tert-butyldimethylsilyl derivatives.

Clinica chimica acta; international journal of clinical chemistry 20081001

Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development.

Journal of pediatric hematology/oncology 20080901

Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.

Journal of pediatric hematology/oncology 20080901

The use of calcium and vitamin D in the management of osteoporosis.

Therapeutics and clinical risk management 20080801

Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome.

Journal of lipid research 20080701

Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome.

Biochimica et biophysica acta 20080601

Clinical challenges in the management of osteoporosis.

Clinical interventions in aging 20080601

Differential effects of cholesterol and its immediate biosynthetic precursors on membrane organization.

Biochemistry 20080520

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

European journal of human genetics : EJHG 20080501

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics 20080401

Discovery and progress in our understanding of the regulated secretory pathway in neuroendocrine cells.

Histochemistry and cell biology 20080301

Oxysterols: novel biologic roles for the 21st century.

Steroids 20080201

Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 20080101

Neuroimmune mechanisms in patients with atopic dermatitis during chronic stress.

Journal of the European Academy of Dermatology and Venereology : JEADV 20080101

Osteomalacia in an HIV-infected man receiving rifabutin, a cytochrome P450 enzyme inducer: a case report.

Annals of clinical microbiology and antimicrobials 20080101

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

European journal of medical genetics 20080101

Daphnia Halloween genes that encode cytochrome P450s mediating the synthesis of the arthropod molting hormone: evolutionary implications.

BMC evolutionary biology 20080101

Altered expression patterns of lipid metabolism genes in an animal model of HCV core-related, nonobese, modest hepatic steatosis.

BMC genomics 20080101

Sunlight, UV-radiation, vitamin D and skin cancer: how much sunlight do we need?

Advances in experimental medicine and biology 20080101

Transcriptome analysis reveals new insight into appressorium formation and function in the rice blast fungus Magnaporthe oryzae.

Genome biology 20080101

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).

BMC genomics 20080101

Chlamydial genes shed light on the evolution of photoautotrophic eukaryotes.

BMC evolutionary biology 20080101

An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases.

BMC developmental biology 20080101

Histone deacetylase inhibitors: a new mode for inhibition of cholesterol metabolism.

BMC genomics 20080101

Dynamical modeling of the cholesterol regulatory pathway with Boolean networks.

BMC systems biology 20080101

The Hedgehog protein family.

Genome biology 20080101

Influenza and ultraviolet germicidal irradiation.

Virology journal 20080101

Vitamin D or hormone D deficiency in autoimmune rheumatic diseases, including undifferentiated connective tissue disease.

Arthritis research & therapy 20080101

Determination of key intermediates in cholesterol and bile acid biosynthesis by stable isotope dilution mass spectrometry.

Analytical chemistry insights 20080101

Vitamin D and skin physiology: a D-lightful story.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20071201

Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS.

Biochemical and biophysical research communications 20071123

Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.

Journal of perinatology : official journal of the California Perinatal Association 20071101

Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Journal of inherited metabolic disease 20071101

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Journal of child neurology 20071101

Expression and p75 neurotrophin receptor dependence of cholesterol synthetic enzymes in adult mouse brain.

Neurobiology of aging 20071001

Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Steroids 20071001

UVB therapy increases 25(OH) vitamin D syntheses in postmenopausal women with psoriasis.

Photodermatology, photoimmunology & photomedicine 20071001

Plasma vitamin D and risk of colorectal cancer: the Japan Public Health Center-Based Prospective Study.

British journal of cancer 20070806

Role of sterol type on lateral pressure profiles of lipid membranes affecting membrane protein functionality: Comparison between cholesterol, desmosterol, 7-dehydrocholesterol and ketosterol.

Journal of structural biology 20070801

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

American journal of medical genetics. Part A 20070801

The high prevalence of vitamin D insufficiency across Australian populations is only partly explained by season and latitude.

Environmental health perspectives 20070801

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Prenatal diagnosis 20070701

Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS.

Biochemical and biophysical research communications 20070629

Inhibition of poly(adenosine diphosphate-ribose) polymerase by the active form of vitamin D.

International journal of molecular medicine 20070601

Oxysterols: functional significance in fetal development and the maintenance of normal retinal function.

Current opinion in lipidology 20070601

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Journal of inherited metabolic disease 20070601

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.

Molecular genetics and metabolism 20070501

Factors that influence the cutaneous synthesis and dietary sources of vitamin D.

Archives of biochemistry and biophysics 20070415

Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.

Journal of inherited metabolic disease 20070401

Effects of Atorvastatin on vitamin D levels in patients with acute ischemic heart disease.

The American journal of cardiology 20070401

Cholesterol starvation induces differentiation of human leukemia HL-60 cells.

Cancer research 20070401

Prevention of prion propagation by dehydrocholesterol reductase inhibitors in cultured cells and a therapeutic trial in mice.

Biological & pharmaceutical bulletin 20070401

Photoprotection by 1,25 dihydroxyvitamin D3 is associated with an increase in p53 and a decrease in nitric oxide products.

The Journal of investigative dermatology 20070301

In vivo relevance for photoprotection by the vitamin D rapid response pathway.

The Journal of steroid biochemistry and molecular biology 20070301

Reintroduction of a classic vitamin D ultraviolet source.

The Journal of steroid biochemistry and molecular biology 20070301

Wavelength-dependent induction of CYP24A1-mRNA after UVB-triggered calcitriol synthesis in cultured human keratinocytes.

The Journal of investigative dermatology 20070101

Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.

BMC developmental biology 20070101

Vitamin D inadequacy in Belgian postmenopausal osteoporotic women.

BMC public health 20070101

Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer.

BMC cancer 20070101

Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism.

Bioinformation 20070101

7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: roles of NADPH oxidase, mitochondria, and lipid rafts.

Free radical biology & medicine 20061201

Retinoids in the treatment of skin aging: an overview of clinical efficacy and safety.

Clinical interventions in aging 20061201

Dermal fibroblasts pretreated with a sterol Delta7-reductase inhibitor produce 25-hydroxyvitamin D3 upon UVB irradiation.

Journal of photochemistry and photobiology. B, Biology 20061002

Steroid structural requirements for interaction of ostreolysin, a lipid-raft binding cytolysin, with lipid monolayers and bilayers.

Biochimica et biophysica acta 20061001

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

American journal of medical genetics. Part A 20061001

A dual role for 7-dehydrocholesterol reductase in regulating Hedgehog signalling?

Development (Cambridge, England) 20061001

[Smith-Lemli-Opitz syndrome].

Nihon rinsho. Japanese journal of clinical medicine 20060928

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 of cellular biochemistry 20060901

Initial studies on an in vivo action spectrum for melanoma induction.

Progress in biophysics and molecular biology 20060901

Who, what, where and when-influences on cutaneous vitamin D synthesis.

Progress in biophysics and molecular biology 20060901

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Birth defects research. Part A, Clinical and molecular teratology 20060901

Cholesterol precursors stabilize ordinary and ceramide-rich ordered lipid domains (lipid rafts) to different degrees. Implications for the Bloch hypothesis and sterol biosynthesis disorders.

The Journal of biological chemistry 20060804

Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.

Developmental dynamics : an official publication of the American Association of Anatomists 20060801

Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion.

PLoS biology 20060801

Vitamin D deficiency: A global perspective.

Arquivos brasileiros de endocrinologia e metabologia 20060801

Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.

Free radical biology & medicine 20060715

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

Journal of lipid research 20060701

Neverland is an evolutionally conserved Rieske-domain protein that is essential for ecdysone synthesis and insect growth.

Development (Cambridge, England) 20060701

Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.

Biochemical and biophysical research communications 20060623

A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation.

American journal of physiology. Gastrointestinal and liver physiology 20060601

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase.

Development (Cambridge, England) 20060601

UVB-induced production of 1,25-dihydroxyvitamin D3 and vitamin D activity in human keratinocytes pretreated with a sterol delta7-reductase inhibitor.

Journal of cellular biochemistry 20060501

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.

Journal of cell science 20060501

Oxidation of cholesterol by a biomimetic oxidant, cetyltrimethylammonium dichromate.

The Journal of organic chemistry 20060428

Hormonal control of C. elegans dauer formation and life span by a Rieske-like oxygenase.

Developmental cell 20060401

Nystatin-induced lipid vesicles permeabilization is strongly dependent on sterol structure.

Biochimica et biophysica acta 20060401

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Human molecular genetics 20060315

Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.

Experimental eye research 20060301

Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.

Experimental eye research 20060301

Dietary approaches that delay age-related diseases.

Clinical interventions in aging 20060301

Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome.

Free radical biology & medicine 20060215

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.

Pediatrics 20060201

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

Journal of lipid research 20060101

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Clinical genetics 20060101

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

European journal of medical genetics 20060101

Burn-induced bone loss: importance, mechanisms, and management.

Journal of burns and wounds 20060101

Drug-induced activation of SREBP-controlled lipogenic gene expression in CNS-related cell lines: marked differences between various antipsychotic drugs.

BMC neuroscience 20060101

Female Iberian wall lizards prefer male scents that signal a better cell-mediated immune response.

Biology letters 20051222

Recent insights into the Smith-Lemli-Opitz syndrome.

Clinical genetics 20051101

A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis.

Development (Cambridge, England) 20051101

Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.

Prenatal diagnosis 20051101

Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease.

The Journal of neuroscience : the official journal of the Society for Neuroscience 20051026

Cholesterol biosynthesis and the pro-apoptotic effects of the p75 nerve growth factor receptor in PC12 pheochromocytoma cells.

Brain research. Molecular brain research 20051003

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.

The British journal of dermatology 20051001

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.

American journal of medical genetics. Part A 20050915

Season of diagnosis is a prognostic factor in Hodgkin's lymphoma: a possible role of sun-induced vitamin D.

British journal of cancer 20050905

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

Birth defects research. Part A, Clinical and molecular teratology 20050801

Enzymatic metabolism of ergosterol by cytochrome p450scc to biologically active 17alpha,24-dihydroxyergosterol.

Chemistry & biology 20050801

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

American journal of medical genetics. Part A 20050730

A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study.

Chemistry and physics of lipids 20050701

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Human mutation 20050701

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Molecular genetics and metabolism 20050701

Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells.

Molecular endocrinology (Baltimore, Md.) 20050601

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Molecular genetics and metabolism 20050601

Methylation of CpG islands in the rat 7-dehydrocholesterol reductase promoter suppresses transcriptional activation.

Molecules and cells 20050430

Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression.

Brain research. Developmental brain research 20050421

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Human mutation 20050401

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Journal of medical genetics 20050401

SNAIL vs vitamin D receptor expression in colon cancer: therapeutics implications.

British journal of cancer 20050328

Cholesterol-producing transgenic Caenorhabditis elegans lives longer due to newly acquired enhanced stress resistance.

Biochemical and biophysical research communications 20050325

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism 20050201

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

American journal of medical genetics. Part A 20050115

Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.

Journal of inherited metabolic disease 20050101

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.

Journal of inherited metabolic disease 20050101

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Journal of human genetics 20050101

The vitamin D3 pathway in human skin and its role for regulation of biological processes.

Photochemistry and photobiology 20050101

Differential gene expression in anatomical compartments of the human eye.

Genome biology 20050101

Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.

Developmental neuroscience 20050101

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.

Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 20050101

Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.

Journal of inherited metabolic disease 20050101

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Clinical genetics 20041201

Alpha-tocopherol affects androgen metabolism in male rat.

Annals of the New York Academy of Sciences 20041201

Lovastatin exacerbates atypical absence seizures with only minimal effects on brain sterols.

Journal of lipid research 20041101

Long-term effects of sterol depletion in C. elegans: sterol content of synchronized wild-type and mutant populations.

Journal of lipid research 20041101

Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.

Pediatric research 20041101

A novel pathway for sequential transformation of 7-dehydrocholesterol and expression of the P450scc system in mammalian skin.

European journal of biochemistry 20041101

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers.

The American journal of psychiatry 20041101

Enzyme blockade: a nonradioactive method to determine the absolute rate of cholesterol synthesis in the brain.

Journal of lipid research 20041001

Sterol-derived hormone(s) controls entry into diapause in Caenorhabditis elegans by consecutive activation of DAF-12 and DAF-16.

PLoS biology 20041001

Molecular characterization of the microsomal tamoxifen binding site.

The Journal of biological chemistry 20040806

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Journal of medical genetics 20040801

Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.

Archives of ophthalmology (Chicago, Ill. : 1960) 20040801

[Vitamin D: synthesis, metabolism, regulation, and an assessment of its deficiency in patients with chronic renal disease].

Vnitrni lekarstvi 20040701

[New relevance of vitamin D3 metabolism in the skin].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 20040501

Role for tumor necrosis factor-alpha in UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in cultured keratinocytes.

The Journal of steroid biochemistry and molecular biology 20040501

Dietary alpha-tocopherol affects differential gene expression in rat testes.

IUBMB life 20040501

DD-RT-PCR identifies 7-dehydrocholesterol reductase as a key marker of early Leydig cell steroidogenesis.

Molecular and cellular endocrinology 20040430

Investigation of completed suicide and genes involved in cholesterol metabolism.

Journal of affective disorders 20040401

Effect of sterols on beta-amyloid peptide (AbetaP 1-40) channel formation and their properties in planar lipid membranes.

Biophysical journal 20040401

[DNA microarray reveals changes in gene expression of endothelial cells under shear stress].

Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi 20040401

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20040301

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.

Biochemical and biophysical research communications 20040227

Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.

Journal of lipid research 20040201

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

American journal of medical genetics. Part A 20040201

Effect of clothing varieties on solar photosynthesis of previtamin D3: an in vitro study.

Photodermatology, photoimmunology & photomedicine 20040201

Synthesis of vitamin D in skin after burns.

Lancet (London, England) 20040124

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Neuroradiology 20040101

The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production.

Steroids 20040101

Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome.

BMC developmental biology 20040101

Normal human epidermal keratinocytes treated with 7-dehydrocholesterol express increased levels of heat shock protein.

Journal of cosmetic science 20040101

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism 20040101

Vitamin D and skin: new aspects for dermatology.

Experimental dermatology 20040101

Identification of natural ligands of retinoic acid receptor-related orphan receptor alpha ligand-binding domain expressed in Sf9 cells--a mass spectrometry approach.

Analytical biochemistry 20031201

Novel sterols synthesized via the CYP27A1 metabolic pathway.

Archives of biochemistry and biophysics 20031201

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20031201

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

American journal of medical genetics. Part A 20031115

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 20031001

What controls variation in human skin color?

PLoS biology 20031001

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A 20030915

Versatile photosensitization system for 1O2-mediated oxidation of alkenes based on nafion-supported platinum(II) terpyridyl acetylide complex.

Organic letters 20030904

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

Steroids 20030801

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Human molecular genetics 20030701

Susceptibilities of phospholipid vesicles containing different sterols to amphotericin B-loaded lysophosphatidylcholine micelles.

Journal of biochemistry 20030701

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Annals of human genetics 20030501

Yeast-like symbiotes as a sterol source in anobiid beetles (Coleoptera, Anobiidae): possible metabolic pathways from fungal sterols to 7-dehydrocholesterol.

Archives of insect biochemistry and physiology 20030401

Demonstration of UVB-induced synthesis of 1 alpha,25-dihydroxyvitamin D3 (calcitriol) in human skin by microdialysis.

Archives of dermatological research 20030401

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

Birth defects research. Part A, Clinical and molecular teratology 20030301

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.

American journal of medical genetics. Part A 20030130

Protein prenyltransferases.

Genome biology 20030101

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.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 20030101

[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 20030101

Chemical and photolytical transformation of biomedically significant compounds in the presence of deuterated solvents.

Journal of photochemistry and photobiology. B, Biology 20030101

Smith-Lemli-Opitz syndrome: a review, case report and dental implications.

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

Extrarenal sites of calcitriol synthesis: the particular role of the skin.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer 20030101

Simvastatin treatment in the SLO syndrome: a safe approach?

American journal of medical genetics 20021122

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

American journal of human genetics 20021001

Ternary gradient elution markedly improves silver-ion high performance liquid chromatography of unsaturated sterols.

Steroids 20021001

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion.

Journal of lipid research 20021001

Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome.

Journal of internal medicine 20021001

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.

American journal of medical genetics 20020901

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.

Prenatal diagnosis 20020901

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.

Biological & pharmaceutical bulletin 20020801

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Molecular and cellular probes 20020801

Cholesterol induce oligomerization of Vibrio vulnificus cytolysin specifically.

Experimental & molecular medicine 20020731

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.

American journal of medical genetics 20020715

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

American journal of medical genetics 20020615

Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene.

Biochimica et biophysica acta 20020607

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

Journal of medical genetics 20020601

A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.

Chemistry and physics of lipids 20020501

Reductive metabolism of an alpha,beta-ketoalkyne, 4-phenyl-3-butyn-2-one, by rat liver preparations.

Drug metabolism and disposition: the biological fate of chemicals 20020401

Influence of simvastatin, pravastatin, and BM 15.766 on neutral sterols in liver and testis of guinea pigs.

Metabolism: clinical and experimental 20020401

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Molecular genetics and metabolism 20020401

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

American journal of medical genetics 20020215

Developmental sensitivity of associative learning to cholesterol synthesis inhibitors.

Behavioural brain research 20020201

Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20020125

Brain sterols in the AY-9944 rat model of atypical absence seizures.

Epilepsia 20020101

Cholesterol and development: the RSH ('Smith-Lemli-Opitz') syndrome and related conditions.

Pediatric pathology & molecular medicine 20020101

Evolution of UV-B regulation and protection in plants.

Advances in space research : the official journal of the Committee on Space Research (COSPAR) 20020101

DHCR7 and Smith-Lemli-Opitz syndrome.

Clinical and investigative medicine. Medecine clinique et experimentale 20011201

A little cholesterol in time...

Clinical and investigative medicine. Medecine clinique et experimentale 20011201

UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in an in vitro human skin equivalent model.

The Journal of investigative dermatology 20011101

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.

American journal of medical genetics 20011101

Molecular cloning and structural analysis of human sterol C5 desaturase.

Biochimica et biophysica acta 20011031

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

American journal of medical genetics 20011015

A cholesterol-lowering drug reduces beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease.

Neurobiology of disease 20011001

Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis.

Cancer letters 20010920

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.

The Journal of clinical investigation 20010915

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

American journal of medical genetics 20010915

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.

The Journal of biological chemistry 20010907

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.

American journal of medical genetics 20010901

Provitamins and vitamins D₂and D₃in Cladina spp. over a latitudinal gradient: possible correlation with UV levels.

Journal of photochemistry and photobiology. B, Biology 20010901

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

American journal of medical genetics 20010722

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.

American journal of medical genetics 20010722

Woc (without children) gene control of ecdysone biosynthesis in Drosophila melanogaster.

Molecular and cellular endocrinology 20010705

The interactions of amphotericin B with various sterols in relation to its possible use in anticancer therapy.

Biophysical chemistry 20010702

[Smith-Lemli-Opitz syndrome].

Anales espanoles de pediatria 20010701

Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis.

Journal of lipid research 20010701

[Relationship between changes in skin lipids by ultraviolet exposure and the cell toxicity].

Nihon eiseigaku zasshi. Japanese journal of hygiene 20010701

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Clinical genetics 20010601

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.

The Journal of biological chemistry 20010525

Observations on serum 25-hydroxyvitamin D and calcium concentrations from wild-caught and captive neotropical bats, Artibeus jamaicensis.

General and comparative endocrinology 20010501

Effects of treatment with deoxycholic acid and chenodeoxycholic acid on the hepatic synthesis of cholesterol and bile acids in healthy subjects.

Hepatology (Baltimore, Md.) 20010501

Sterols in blood of normal and Smith-Lemli-Opitz subjects.

Journal of lipid research 20010501

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Annals of human genetics 20010501

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

American journal of medical genetics 20010422

Comparative behavior of sterols in phosphatidylcholine-sterol monolayer films.

Biochimica et biophysica acta 20010402

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Human molecular genetics 20010315

Mutations in the human DHCR7 gene.

Human mutation 20010301

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.

Journal of lipid research 20010301

Cholesterol favors phase separation of sphingomyelin.

Biophysical chemistry 20010215

Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.

Developmental dynamics : an official publication of the American Association of Anatomists 20010201

Deuterated delta 7-cholestenol analogues as mechanistic probes for wild-type and mutated delta 7-sterol-C5(6)-desaturase.

Biochemistry 20010109

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism 20010101

Fatty acid steryl, stanyl, and steroid esters by esterification and transesterification in vacuo using Candida rugosa lipase as catalyst.

Journal of agricultural and food chemistry 20010101

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

European journal of human genetics : EJHG 20010101

Inborn errors of sterol biosynthesis.

Annual review of genomics and human genetics 20010101

Sterol methyltransferase 1 controls the level of cholesterol in plants.

The Plant cell 20000601

Cholesterol 7alpha-hydroxylase. 2. Biochemical properties and participation of endogenous cholesterol in the assay in vitro.

European journal of biochemistry 19750616