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https://www.readbyqxmd.com/read/28415985/vitamin-d-related-gene-polymorphism-predict-treatment-response-to-pegylated-interferon-based-therapy-in-thai-chronic-hepatitis-c-patients
#1
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjaroen, Pisit Tangkijvanich, Sombat Treeprasertsuk, Panarat Thaimai, Rujipat Wasitthankasem, Yong Poovorawan, Piyawat Komolmit
BACKGROUND: Patients with chronic hepatitis C (HCV) infection have high prevalence of vitamin D deficiency. Genome-wide association study data has showed that several genetic variants within vitamin D cascade affect vitamin D function. This study aimed to determine whether genetic polymorphisms of genes in the vitamin D pathway are associated with treatment responses to pegylated interferon (PEG-IFN)-based therapy in patients with chronic HCV infection. METHODS: The study included 623 Thai patients from 2 university hospitals diagnosed with chronic HCV infection who were treated with a PEG-IFN and ribavirin...
April 17, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28382877/common-genetic-variants-are-associated-with-lower-serum-25-hydroxyvitamin-d-concentrations-across-the-year-among-children-at-northern-latitudes
#2
Rikke A Petersen, Lesli H Larsen, Camilla T Damsgaard, Louise B Sørensen, Mads F Hjorth, Rikke Andersen, Inge Tetens, Henrik Krarup, Christian Ritz, Arne Astrup, Kim F Michaelsen, Christian Mølgaard
In a longitudinal study including 642 healthy 8-11-year-old Danish children, we investigated associations between vitamin D dependent SNP and serum 25-hydroxyvitamin D (25(OH)D) concentrations across a school year (August-June). Serum 25(OH)D was measured three times for every child, which approximated measurements in three seasons (autumn, winter, spring). Dietary and supplement intake, physical activity, BMI and parathyroid hormone were likewise measured at each time point. In all, eleven SNP in four vitamin D-related genes: Cytochrome P450 subfamily IIR1 (CYP2R1); 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase-1(DHCR7/NADSYN1); group-specific complement (GC); and vitamin D receptor were genotyped...
April 6, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28362172/vitamin-d-signaling-pathways-confer-the-susceptibility-of-esophageal-squamous-cell-carcinoma-in-a-northern-chinese-population
#3
Jianzhou Yang, Haili Wang, Aifang Ji, Liang Ma, Jinsheng Wang, Changhong Lian, Zibai Wei, Lidong Wang
Experimental studies have determined the chemopreventive effects of vitamin D against the esophageal squamous cell carcinoma (ESCC); however, results from the epidemiological studies are not yet well established. The current study aimed to evaluate the associations between plasma vitamin D levels and variants on vitamin D metabolic-related genes with the risks for ESCC. A hospital-based case-control study was performed. Five hundred eighty-two ESCC patients and 569 controls were recruited in a Northern Chinese population...
March 31, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28357621/improved-campesterol-production-in-engineered-yarrowia-lipolytica-strains
#4
Yu Zhang, Ying Wang, Mingdong Yao, Hong Liu, Xiao Zhou, Wenhai Xiao, Yingjin Yuan
OBJECTIVES: To engineer Yarrowia lipolytica for improving the heterologous production of campesterol (a key precursor to manufacture pharmaceutical steroids). RESULTS: By screening 7-dehydrocholesterol reductase (DHCR7) from diverse species, DHCR7 from Danio rerio was the best candidate for campesterol synthesis. Overexpression of ACL (ATP: citrate lyase) or POX2 (peroxisome acyl-CoA oxidase 2) were key to improving campesterol production. The highest yield of campesterol was 942 mg/l was with the strain overexpressing POX2 in a 5 l bioreactor via high cell density fermentation process with a restricted supply of carbon sourc, sunflower seed oil...
March 29, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28296915/genetic-variation-in-the-vitamin-d-pathway-cyp2r1-gene-predicts-sustained-hbeag-seroconversion-in-chronic-hepatitis-b-patients-treated-with-pegylated-interferon-a-multicenter-study
#5
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjareon, Tawesak Tanwandee, Phunchai Charatcharoenwitthaya, Satawat Thongsawat, Apinya Leerapun, Teerha Piratvisuth, Rattana Boonsirichan, Chalermrat Bunchorntavakul, Chaowalit Pattanasirigool, Bubpha Pornthisarn, Supot Tantipanichtheerakul, Ekawee Sripariwuth, Woramon Jeamsripong, Teeranan Sanpajit, Yong Poovorawan, Piyawat Komolmit
Evidence of a role of vitamin D in the immune system is increasing. Low serum vitamin D is associated with increased hepatitis B virus replication. Genome-wide association study (GWAS) data has revealed a number of the single nucleotide polymorphisms (SNPs) within the vitamin D synthetic pathway that affect vitamin D functions. We aimed to determine the association between SNPs in the vitamin D gene cascade and response to pegylated interferon (PegIFN) therapy in hepatitis B e-antigen (HBeAg)-positive patients...
2017: PloS One
https://www.readbyqxmd.com/read/28258022/probes-for-protein-adduction-in-cholesterol-biosynthesis-disorders-alkynyl-lanosterol-as-a-viable-sterol-precursor
#6
Keri A Tallman, Hye-Young H Kim, Zeljka Korade, Thiago C Genaro-Mattos, Phillip A Wages, Wei Liu, Ned A Porter
The formation of lipid electrophile-protein adducts is associated with many disorders that involve perturbations of cellular redox status. The identities of adducted proteins and the effects of adduction on protein function are mostly unknown and an increased understanding of these factors may help to define the pathogenesis of various human disorders involving oxidative stress. 7-Dehydrocholesterol (7-DHC), the immediate biosynthetic precursor to cholesterol, is highly oxidizable and gives electrophilic oxysterols that adduct proteins readily, a sequence of events proposed to occur in Smith-Lemli-Opitz syndrome (SLOS), a human disorder resulting from an error in cholesterol biosynthesis...
February 24, 2017: Redox Biology
https://www.readbyqxmd.com/read/28250423/prevalence-of-four-mendelian-disorders-associated-with-autism-in-2392-affected-families
#7
Avi Saskin, Vanessa Fulginiti, Ashley H Birch, Yannis Trakadis
Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28220990/oxidative-stress-serotonergic-changes-and-decreased-ultrasonic-vocalizations-in-a-mouse-model-of-smith-lemli-opitz-syndrome
#8
N F Sharif, Z Korade, N A Porter, F E Harrison
Smith-Lemli-Opitz syndrome is an inherited monogenic disorder in which mutations to the 7-dehydrocholesterol (7-DHC) reductase (Dhcr7) gene lead to deficits in cholesterol synthesis. As a result, many patients suffer from gross physiological and neurological deficits. The purpose of this study was to identify a potential abnormal behavioral phenotype in a compound mutant mouse model for Smith-Lemli-Opitz disease (Dhcr7 (Δ3)(-5/)(T93M) ) to further validate the model and to provide potential targets for future therapeutic interventions...
February 21, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28202290/effect-of-psychotropic-drug-treatment-on-sterol-metabolism
#9
Željka Korade, Wei Liu, Emily B Warren, Kristan Armstrong, Ned A Porter, Christine Konradi
Cholesterol metabolism is vital for brain function. Previous work in cultured cells has shown that a number of psychotropic drugs inhibit the activity of 7-dehydrocholesterol reductase (DHCR7), an enzyme that catalyzes the final steps in cholesterol biosynthesis. This leads to the accumulation of 7-dehydrocholesterol (7DHC), a molecule that gives rise to oxysterols, vitamin D, and atypical neurosteroids. We examined levels of cholesterol and the cholesterol precursors desmosterol, lanosterol, 7DHC and its isomer 8-dehydrocholesterol (8DHC), in blood samples of 123 psychiatric patients on various antipsychotic and antidepressant drugs, and 85 healthy controls, to see if the observations in cell lines hold true for patients as well...
February 12, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28161533/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-patients-with-chronic-obstructive-pulmonary-disease-in-london-uk
#10
David A Jolliffe, Wai Yee James, Richard L Hooper, Neil C Barnes, Claire L Greiller, Kamrul Islam, Angshu Bhowmik, Peter M Timms, Raj K Rajakulasingam, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Robert T Walton, Christopher J Corrigan, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in patients with chronic obstructive pulmonary disease (COPD), yet a comprehensive analysis of environmental and genetic determinants of serum 25-hydroxyvitamin D (25[OH]D) concentration in patients with this condition is lacking. We conducted a multi-centre cross-sectional study in 278 COPD patients aged 41-92 years in London, UK. Details of potential environmental determinants of vitamin D status and COPD symptom control and severity were collected by questionnaire, and blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction...
February 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27978548/vitamin-d-receptor-genotype-vitamin-d3-supplementation-and-risk-of-colorectal-adenomas-a-randomized-clinical-trial
#11
Elizabeth L Barry, Janet L Peacock, Judy R Rees, Roberd M Bostick, Douglas J Robertson, Robert S Bresalier, John A Baron
Importance: Despite epidemiological and preclinical evidence suggesting that vitamin D and calcium inhibit colorectal carcinogenesis, daily supplementation with these nutrients for 3 to 5 years was not found to significantly reduce the risk of recurrent colorectal adenomas in a recent randomized clinical trial. Objective: To investigate whether common variants in 7 vitamin D and calcium pathway genes (VDR, GC, DHCR7, CYP2R1, CYP27B1, CYP24A1, and CASR) modify the effects of vitamin D3 or calcium supplementation on colorectal adenoma recurrence...
December 15, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27825992/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-adults-with-inhaled-corticosteroid-treated-asthma-in-london-uk
#12
REVIEW
David A Jolliffe, Kate Kilpin, Beverley D MacLaughlin, Claire L Greiller, Richard L Hooper, Neil C Barnes, Peter M Timms, Raj K Rajakulasingam, Angshu Bhowmik, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Christopher J Corrigan, Robert T Walton, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in children with asthma, and it associates with poor asthma control, reduced forced expiratory volume in one second (FEV1) and increased requirement for inhaled corticosteroids (ICS). Cross-sectional studies investigating the prevalence, determinants and clinical correlates of vitamin D deficiency in adults with asthma are lacking. We conducted a multi-centre cross-sectional study in 297 adults with a medical record diagnosis of ICS-treated asthma living in London, UK. Details of potential environmental determinants of vitamin D status, asthma control and medication use were collected by questionnaire; blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction, and participants underwent measurement of weight, height and fractional exhaled nitric oxide concentration (FeNO), spirometry and sputum induction for determination of lower airway eosinophil counts (n=35 sub-group)...
November 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27756067/determinants-of-neonatal-vitamin-d-levels-as-measured-on-neonatal-dried-blood-spot-samples
#13
Chloe A Smith, Cong Sun, Angela Pezic, Christine Rodda, Fergus Cameron, Katie Allen, Maria E Craig, John Carlin, Terry Dwyer, Robyn M Lucas, Darryl W Eyles, Andrew S Kemp, Justine A Ellis, Anne-Louise Ponsonby
BACKGROUND: Vitamin D deficiency is linked to adverse childhood health outcomes, yet data on the distribution and quantifiable determinants of neonatal 25-hydroxyvitamin D3 (25OHD) concentration, a vitamin D biomarker, are limited. OBJECTIVE: Our aim was to identify determinants of neonatal 25OHD concentration, measured using neonatal dried blood spots (DBS). METHODS: A total of 259 ethnically diverse children aged 0-16 years born in Victoria, Australia, were recruited...
2017: Neonatology
https://www.readbyqxmd.com/read/27732326/genetic-variants-in-the-vitamin-d-pathway-25-oh-d-levels-and-mortality-in-a-large-population-based-cohort-study
#14
José Manuel Ordóñez-Mena, Haifa Maalmi, Ben Schöttker, Kai-Uwe Saum, Bernd Holleczek, Thomas J Wang, Barbara Burwinkel, Hermann Brenner
Context: Low 25-hydroxyvitamin D [25(OH)D] concentrations have been consistently associated with excess mortality in epidemiological studies, but this association could be due to confounding by health impairments associated with low 25(OH)D levels. An association of vitamin D-related genetic variants with all-cause mortality could strengthen the claims of causality, because this association is assumed to be unaffected by confounding. Objective: To assess the associations of low 25(OH)D with mortality in the presence or absence of genetic variants in the vitamin D pathway...
February 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27697512/dhcr7-a-vital-enzyme-switch-between-cholesterol-and-vitamin-d-production
#15
REVIEW
Anika V Prabhu, Winnie Luu, Dianfan Li, Laura J Sharpe, Andrew J Brown
The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol reductase (DHCR7). Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality, highlighting the importance of this enzyme in human development and survival. Besides serving as a substrate for DHCR7, 7-dehydrocholesterol is also a precursor of vitamin D via the action of ultraviolet light on the skin...
October 2016: Progress in Lipid Research
https://www.readbyqxmd.com/read/27594614/association-of-vitamin-d-levels-and-risk-of-ovarian-cancer-a-mendelian-randomization-study
#16
Jue-Sheng Ong, Gabriel Cuellar-Partida, Yi Lu, Peter A Fasching, Alexander Hein, Stefanie Burghaus, Matthias W Beckmann, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Adriaan Vanderstichele, Jennifer Anne Doherty, Mary Anne Rossing, Jenny Chang-Claude, Ursula Eilber, Anja Rudolph, Shan Wang-Gohrke, Marc T Goodman, Natalia Bogdanova, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo B Runnebaum, Natalia Antonenkova, Ralf Butzow, Arto Leminen, Heli Nevanlinna, Liisa M Pelttari, Robert P Edwards, Joseph L Kelley, Francesmary Modugno, Kirsten B Moysich, Roberta B Ness, Rikki Cannioto, Estrid Høgdall, Claus K Høgdall, Allan Jensen, Graham G Giles, Fiona Bruinsma, Susanne K Kjaer, Michelle At Hildebrandt, Dong Liang, Karen H Lu, Xifeng Wu, Maria Bisogna, Fanny Dao, Douglas A Levine, Daniel W Cramer, Kathryn L Terry, Shelley S Tworoger, Meir Stampfer, Stacey Missmer, Line Bjorge, Helga B Salvesen, Reidun K Kopperud, Katharina Bischof, Katja Kh Aben, Lambertus A Kiemeney, Leon Fag Massuger, Angela Brooks-Wilson, Sara H Olson, Valerie McGuire, Joseph H Rothstein, Weiva Sieh, Alice S Whittemore, Linda S Cook, Nhu D Le, C Blake Gilks, Jacek Gronwald, Anna Jakubowska, Jan Lubiński, Tomasz Kluz, Honglin Song, Jonathan P Tyrer, Nicolas Wentzensen, Louise Brinton, Britton Trabert, Jolanta Lissowska, John R McLaughlin, Steven A Narod, Catherine Phelan, Hoda Anton-Culver, Argyrios Ziogas, Diana Eccles, Ian Campbell, Simon A Gayther, Aleksandra Gentry-Maharaj, Usha Menon, Susan J Ramus, Anna H Wu, Agnieszka Dansonka-Mieszkowska, Jolanta Kupryjanczyk, Agnieszka Timorek, Lukasz Szafron, Julie M Cunningham, Brooke L Fridley, Stacey J Winham, Elisa V Bandera, Elizabeth M Poole, Terry K Morgan, Harvey A Risch, Ellen L Goode, Joellen M Schildkraut, Celeste L Pearce, Andrew Berchuck, Paul Dp Pharoah, Georgia Chenevix-Trench, Puya Gharahkhani, Rachel E Neale, Penelope M Webb, Stuart MacGregor
BACKGROUND: In vitro and observational epidemiological studies suggest that vitamin D may play a role in cancer prevention. However, the relationship between vitamin D and ovarian cancer is uncertain, with observational studies generating conflicting findings. A potential limitation of observational studies is inadequate control of confounding. To overcome this problem, we used Mendelian randomization (MR) to evaluate the association between single nucleotide polymorphisms (SNPs) associated with circulating 25-hydroxyvitamin D [25(OH)D] concentration and risk of ovarian cancer...
October 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27520299/phosphorylation-regulates-activity-of-7-dehydrocholesterol-reductase-dhcr7-a-terminal-enzyme-of-cholesterol-synthesis
#17
Anika V Prabhu, Winnie Luu, Laura J Sharpe, Andrew J Brown
Cholesterol is essential for survival, but too much or too little can cause disease. Thus, cholesterol levels must be kept within close margins. 7-dehydrocholesterol reductase (DHCR7) is a terminal enzyme of cholesterol synthesis, and is essential for embryonic development. Largely, DHCR7 research is associated with the developmental disease Smith-Lemli-Opitz syndrome, which is caused by mutations in the DHCR7 gene. However, little is known about what regulates DHCR7 activity. Here we provide evidence that phosphorylation plays a role in controlling DHCR7 activity, which may provide a means to divert flux from cholesterol synthesis to vitamin D production...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27513191/a-placebo-controlled-trial-of-simvastatin-therapy-in-smith-lemli-opitz-syndrome
#18
Christopher A Wassif, Lisa Kratz, Susan E Sparks, Courtney Wheeler, Simona Bianconi, Andrea Gropman, Karim A Calis, Richard I Kelley, Elaine Tierney, Forbes D Porter
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/cognitive impairment syndrome characterized by the accumulation of 7-dehydrocholesterol, a precursor sterol of cholesterol. Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor that crosses the blood-brain barrier, has been proposed for the treatment of SLOS based on in vitro and in vivo studies suggesting that simvastatin increases the expression of hypomorphic DHCR7 alleles. METHODS: Safety and efficacy of simvastatin therapy in 23 patients with mild to typical SLOS were evaluated in a randomized, double-blind, placebo-controlled trial...
March 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27401223/investigation-of-7-dehydrocholesterol-reductase-pathway-to-elucidate-off-target-prenatal-effects-of-pharmaceuticals-a-systematic-review
#19
REVIEW
M R Boland, N P Tatonetti
Mendelian diseases contain important biological information regarding developmental effects of gene mutations that can guide drug discovery and toxicity efforts. In this review, we focus on Smith-Lemli-Opitz syndrome (SLOS), a rare Mendelian disease characterized by compound heterozygous mutations in 7-dehydrocholesterol reductase (DHCR7) resulting in severe fetal deformities. We present a compilation of SLOS-inducing DHCR7 mutations and the geographic distribution of those mutations in healthy and diseased populations...
October 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27334845/7-dehydrocholesterol-efficiently-supports-ret-signaling-in-a-mouse-model-of-smith-opitz-lemli-syndrome
#20
Myriam Gou-Fàbregas, Anna Macià, Carlos Anerillas, Marta Vaquero, Mariona Jové, Sanjay Jain, Joan Ribera, Mario Encinas
Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol synthesis. Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developmental malformations. Among them, renal agenesis or hypoplasia, decreased innervation of the gut, and ptosis are consistent with impaired Ret signaling. Ret is a receptor tyrosine kinase that achieves full activity when recruited to lipid rafts. Mice mutant for Ret are born with no kidneys and enteric neurons, and display sympathetic nervous system defects causing ptosis...
June 23, 2016: Scientific Reports
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