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Disease on EC 1.3.1.21 - 7-dehydrocholesterol reductase

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DISEASE
TITLE OF PUBLICATION
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7-dehydrocholesterol reductase deficiency
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.
Effect of psychotropic drug treatment on sterol metabolism.
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.
Molecular consequences of altered neuronal cholesterol biosynthesis.
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase.
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency.
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Recent insights into the Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia.
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Targeting 7-Dehydrocholesterol Reductase Integrates Cholesterol Metabolism and IRF3 Activation to Eliminate Infection.
Abortion, Habitual
Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
Abortion, Spontaneous
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Acute Coronary Syndrome
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome.
Adenocarcinoma
Vitamin D metabolic pathway genes and pancreatic cancer risk.
Adenoma
Vitamin D Receptor Genotype, Vitamin D3 Supplementation, and Risk of Colorectal Adenomas: A Randomized Clinical Trial.
Alzheimer Disease
DHCR7 rs12785878 T>C Polymorphism Is Associated With an Increased Risk of Early Onset of Alzheimer's Disease in Chinese Population.
Aneurysm
Renal Artery Aneurysm A Neverland Entity.
Angina, Unstable
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome.
Arthritis
Arthritis severity locus Cia4 is an early regulator of IL-6, IL-1?, and NF-?B activators' expression in pristane-induced arthritis.
Arthritis, Rheumatoid
Genotypic variability based association identifies novel non-additive loci DHCR7 and IRF4 in sero-negative rheumatoid arthritis.
Vitamin D Receptor Polymorphism and DHCR7 Contribute to the Abnormal Interplay Between Vitamin D and Lipid Profile in Rheumatoid Arthritis.
Atherosclerosis
A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness).
Autoimmune Diseases
Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: Review of genetic association studies.
Brain Diseases
Genetic variants underlying vitamin D metabolism and VDR-TGF?-1-SMAD3 interaction may impact on HCV progression: a study based on dbGaP data from the HALT-C study.
Carcinoma, Hepatocellular
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.
Genetic variants underlying vitamin D metabolism and VDR-TGF?-1-SMAD3 interaction may impact on HCV progression: a study based on dbGaP data from the HALT-C study.
Cataract
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.
Chlamydia Infections
Specific polymorphisms in the vitamin D metabolism pathway are not associated with susceptibility to Chlamydia trachomatis infection in humans.
Cholestasis
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
Cleft Lip
Holoprosencephaly: Clinical, anatomic, and molecular dimensions.
Cleft Palate
Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.
Coinfection
The Association of PNPLA3, COX-2 and DHCR7 Polymorphisms with Advanced Liver Fibrosis in Patients with HCV Mono- Infection and HCV/HIV Co-Infection
Colonic Neoplasms
Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.
Congenital Abnormalities
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Molecular consequences of altered neuronal cholesterol biosynthesis.
Craniofacial Abnormalities
Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Dandy-Walker Syndrome
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Diabetes Mellitus, Type 1
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.
Inherited Variation in Vitamin D Genes Is Associated With Predisposition to Autoimmune Disease Type 1 Diabetes.
Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.
Diabetes Mellitus, Type 2
A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness).
Association between circulating 25-hydroxyvitamin D and incident type 2 diabetes: a mendelian randomisation study.
Dyslipidemias
Heterozygous Nme7 Mutation Affects Glucose Tolerance in Male Rats.
Fatty Liver
Effects of Gene Variants Controlling Vitamin D Metabolism and Serum Levels on Hepatic Steatosis.
Heterozygous Nme7 Mutation Affects Glucose Tolerance in Male Rats.
Genetic Diseases, Inborn
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.
A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases.
Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.
Hearing Loss
Genotype-based databases for variants causing rare diseases.
Holoprosencephaly
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
Holoprosencephaly: Clinical, anatomic, and molecular dimensions.
Hypercholesterolemia
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.
Hypogonadism
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Infections
Association of vitamin D pathway genes polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.
Targeting 7-Dehydrocholesterol Reductase Integrates Cholesterol Metabolism and IRF3 Activation to Eliminate Infection.
The Association of PNPLA3, COX-2 and DHCR7 Polymorphisms with Advanced Liver Fibrosis in Patients with HCV Mono- Infection and HCV/HIV Co-Infection
Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients.
Insulin Resistance
Vitamin D metabolism-related genetic variants, dietary protein intake and improvement of insulin resistance in a 2 year weight-loss trial: POUNDS Lost.
Intellectual Disability
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Molecular consequences of altered neuronal cholesterol biosynthesis.
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
Liver Cirrhosis
Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.
The Association of PNPLA3, COX-2 and DHCR7 Polymorphisms with Advanced Liver Fibrosis in Patients with HCV Mono- Infection and HCV/HIV Co-Infection
Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients.
Lung Neoplasms
No Association of Vitamin D Pathway Genetic Variants with Cancer Risks in a Population-Based Cohort of German Older Adults.
Multiple Sclerosis
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.
Muscular Diseases
Genotype-based databases for variants causing rare diseases.
Neoplasm Metastasis
Germline genetics of cancer of unknown primary (CUP) and its specific subtypes.
Neoplasms
An Integrative In Silico Mathematical Modelling Study of The Anti-Cancer Effect of Clove Extract ( Syzygium aromaticum ) Combined with In Vitro Metabolomics Study Using 1HNMR Spectroscopy.
Association between Vitamin D Genetic Risk Score and Cancer Risk in a Large Cohort of U.S. Women.
Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis.
Cholesterol epoxide hydrolase and cancer.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
No Association of Vitamin D Pathway Genetic Variants with Cancer Risks in a Population-Based Cohort of German Older Adults.
Neural Tube Defects
Holoprosencephaly: Clinical, anatomic, and molecular dimensions.
Neuroblastoma
Prevention of prion propagation by dehydrocholesterol reductase inhibitors in cultured cells and a therapeutic trial in mice.
Niemann-Pick Disease, Type C
microRNAs: A connection between cholesterol metabolism and neurodegeneration.
Non-alcoholic Fatty Liver Disease
Association of vitamin D levels and vitamin D-related gene polymorphisms with liver fibrosis in patients with biopsy-proven nonalcoholic fatty liver disease.
Non-ST Elevated Myocardial Infarction
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome.
Obesity
Effects of Gene Variants Controlling Vitamin D Metabolism and Serum Levels on Hepatic Steatosis.
Genetic association analysis of vitamin D pathway with obesity traits.
Ovarian Neoplasms
Distinct cholesterogenic and lipidogenic gene expression patterns in ovarian cancer - a new pool of biomarkers.
Paralysis
Amyloid-beta induced paralysis is reduced by cholecalciferol through inhibition of the steroid-signaling pathway in an Alzheimer model of Caenorhabditis elegans.
Perinatal Death
Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.
Prostatic Neoplasms
Vitamin D Pathway and Other Related Polymorphisms and Risk of Prostate Cancer: Results from the Prostate Cancer Prevention Trial.
Retinal Degeneration
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention.
Retinoblastoma
Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells.
Skin Diseases
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.
Sleep Deprivation
Separating the contribution of glucocorticoids and wakefulness to the molecular and electrophysiological correlates of sleep homeostasis.
Smith-Lemli-Opitz Syndrome
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome.
A new class of selective and potent 7-dehydrocholesterol reductase inhibitors.
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome.
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.
Adrenal function in Smith-Lemli-Opitz syndrome.
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
Alterations in membrane caveolae and BK(Ca) channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz Syndrome.
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.
Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome.
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Characterization of large deletions in the DHCR7 gene.
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.
Cholesterol-Mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate.
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
DHCR7 and Smith-Lemli-Opitz syndrome.
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
DHCR7: A vital enzyme switch between cholesterol and vitamin D production.
Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis.
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Estrogen enhances secretion of apolipoprotein B-100 containing lipoproteins by BeWo cells.
Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis.
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome.
Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Lesions in the sterol delta reductase gene of Arabidopsis cause dwarfism due to a block in brassinosteroid biosynthesis.
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
Marked alteration of sterol metabolism and composition without compromising retinal development or function.
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment.
microRNAs: A connection between cholesterol metabolism and neurodegeneration.
Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature.
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/?-catenin defects in neuronal cholesterol synthesis phenotypes.
Molecular cloning and expression of the human delta7-sterol reductase.
Molecular consequences of altered neuronal cholesterol biosynthesis.
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome.
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase.
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency.
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.
Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis.
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.
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.
Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis.
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.
Quantitative proteomic analysis of inborn errors of cholesterol synthesis: Identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis.
Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia.
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
Sterols in blood of normal and Smith-Lemli-Opitz subjects.
Subcellular localization of sterol biosynthesis enzymes.
The function of cholesterol in embryogenesis.
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome.
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy.
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Vulnerability of
[Historical aspects of the Smith-Lemli-Opitz syndrome].
[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]
Squamous Cell Carcinoma of Head and Neck
Prognostic value of lipid metabolism-related genes in head and neck squamous cell carcinoma.
ST Elevation Myocardial Infarction
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome.
Stillbirth
Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.
Thyroid Neoplasms
Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.
Virus Diseases
Targeting 7-Dehydrocholesterol Reductase Integrates Cholesterol Metabolism and IRF3 Activation to Eliminate Infection.
Vitamin D Deficiency
An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome.
Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status.
Vitamin D Receptor Polymorphism and DHCR7 Contribute to the Abnormal Interplay Between Vitamin D and Lipid Profile in Rheumatoid Arthritis.
Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors.