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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
#1
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
#2
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...
October 19, 2016: 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
#3
José Manuel Ordónez-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 going along 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...
October 12, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27697512/dhcr7-a-vital-enzyme-switch-between-cholesterol-and-vitamin-d-production
#4
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...
September 30, 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
#5
Jue-Sheng Ong, Gabriel Cuellar-Partida, Yi Lu, Australian Ovarian Cancer Study, 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...
September 4, 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
#6
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
#7
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...
August 11, 2016: 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
#8
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
#9
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...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27331016/erbb3-rs2292239-as-primary-type-1-diabetes-association-locus-among-non-hla-genes-in-chinese
#10
Chengjun Sun, Haiyan Wei, Xiuli Chen, Zhuhui Zhao, Hongwei Du, Wenhui Song, Yu Yang, Miaoying Zhang, Wei Lu, Zhou Pei, Li Xi, Jian Yan, Dijing Zhi, Ruoqian Cheng, Feihong Luo
Type 1 diabetes (T1D) is an autoimmune disease that has strong contribution of genetic factors to its etiology. We aimed to assess the genetic association between non-HLA genes and T1D in a Chinese case-control cohort recruited from multiple centers consisting of 364 patients with T1D and 719 unrelated healthy children. We genotyped 55 single nucleotide polymorphisms (SNP) markers located in 16 non-HLA genes (VTCN1, PTPN22, CTLA4, SUMO4, CD274, IL2RA, INS, DHCR7, ERBB3, VDR, CYP27B1, CD69, CD276, PTPN2, UBASH3A, and IL2RB) using SNaPshot multiple single-base extension methods...
September 2016: Meta Gene
https://www.readbyqxmd.com/read/27097157/inhibitors-of-7-dehydrocholesterol-reductase-screening-of-a-collection-of-pharmacologically-active-compounds-in-neuro2a-cells
#11
Hye-Young H Kim, Zeljka Korade, Keri A Tallman, Wei Liu, C David Weaver, Karoly Mirnics, Ned A Porter
A small library of pharmacologically active compounds (the NIH Clinical Collection) was assayed in Neuro2a cells to determine their effect on the last step in the biosynthesis of cholesterol, the transformation of 7-dehydrocholesterol (7-DHC) to cholesterol promoted by 7-dehydrocholesterol reductase, DHCR7. Of some 727 compounds in the NIH Clinical Collection, over 30 compounds significantly increased 7-DHC in Neuro2a cells when assayed at 1 μM. Active compounds that increased 7-DHC with a Z-score of +3 or greater generally gave rise to modest decreases in desmosterol and increases in lanosterol levels...
May 16, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27066502/dhcr7-regulates-palatal-shelf-fusion-through-regulation-of-shh-and-bmp2-expression
#12
Wen-lin Xiao, Dai-zun Zhang, Hong Xu, Cui-zhu Zhuang
The aim of this study was to investigate the effect of the 7-dehydrocholesterol reductase (Dhcr7) gene and identify signaling pathways involved in regulation of embryonic palatogenesis. The expression of Dhcr7 and its protein product were examined during murine normal embryonic palatogenesis via a reverse transcription polymerase chain reaction (RT-PCR) and Western blot (WB). RNA interference (RNAi) technology was used to inhibit Dhcr7 expression in a palatal shelf culture in vitro. The effects of Dhcr7 on palatogenesis and palatal fusion were examined by scanning electron microscopy (SEM)...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27052530/common-variants-in-cholesterol-synthesis-and-transport-related-genes-associate-with-circulating-cholesterol-responses-to-intakes-of-conventional-dairy-products-in-healthy-individuals
#13
Mohammad Mh Abdullah, Audrey Cyr, Marie-Claude Lépine, Peter K Eck, Patrick Couture, Benoît Lamarche, Peter Jh Jones
BACKGROUND: Dairy intake has been associated with varying impacts on circulating cholesterol concentrations across nutritional epidemiology and intervention studies, with findings attributed mainly to differences in the nature of dairy products consumed or study designs. The contribution of the genomic architecture to such observations has yet to be revealed. OBJECTIVE: We assessed the impact of multiple common genetic variations in cholesterol-related genes on responses of serum cholesterol to the recommended amount of dairy product intake in Canada...
May 2016: Journal of Nutrition
https://www.readbyqxmd.com/read/26998835/modeling-smith-lemli-opitz-syndrome-with-induced-pluripotent-stem-cells-reveals-a-causal-role-for-wnt-%C3%AE-catenin-defects-in-neuronal-cholesterol-synthesis-phenotypes
#14
Kevin R Francis, Amy N Ton, Yao Xin, Peter E O'Halloran, Christopher A Wassif, Nasir Malik, Ian M Williams, Celine V Cluzeau, Niraj S Trivedi, William J Pavan, Wonhwa Cho, Heiner Westphal, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. SLOS results in cognitive impairment, behavioral abnormalities and nervous system defects, though neither affected cell types nor impaired signaling pathways are fully understood. Whether 7DHC accumulation or cholesterol loss is primarily responsible for disease pathogenesis is also unclear. Using induced pluripotent stem cells (iPSCs) from subjects with SLOS, we identified cellular defects that lead to precocious neuronal specification within SLOS derived neural progenitors...
April 2016: Nature Medicine
https://www.readbyqxmd.com/read/26976653/sterols-and-oxysterols-in-plasma-from-smith-lemi-opitz-syndrome-patients
#15
William J Griffiths, Jonas Abdel-Khalik, Peter J Crick, Michael Ogundare, Cedric H Shackleton, Karin Tuschl, Mei Kwun Kwok, Brian W Bigger, Andrew A Morris, Akira Honda, Libin Xu, Ned A Porter, Ingemar Björkhem, Peter T Clayton, Yuqin Wang
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ(7)-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be multiple mechanisms responsible for SLOS pathology. In an effort to learn more of the aetiology of SLOS we have analysed plasma from SLOS patients to search for metabolites derived from 7-DHC which may be responsible for some of the pathology...
March 11, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/26969503/the-p-phe174ser-mutation-is-associated-with-mild-forms-of-smith-lemli-opitz-syndrome
#16
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani
BACKGROUND: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, typical dysmorphic facial features, and variable degrees of developmental delay and intellectual disability (ID). SLOS has a broad phenotypic spectrum, ranging from multiple congenital malformation syndrome, to mild developmental delay and minor malformations...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/26959888/germline-genetics-of-cancer-of-unknown-primary-cup-and-its-specific-subtypes
#17
Kari Hemminki, Bowang Chen, Abhishek Kumar, Olle Melander, Jonas Manjer, Göran Hallmans, Ulrika Pettersson-Kymmer, Claes Ohlsson, Gunnar Folprecht, Harald Löffler, Alwin Krämer, Asta Försti
Cancer of unknown primary site (CUP) is a fatal cancer diagnosed through metastases at various organs. Little is known about germline genetics of CUP which appears worth of a search in view of reported familial associations in CUP. In the present study, samples from CUP patients were identified from 2 Swedish biobanks and a German clinical trial, totaling 578 CUP patients and 7628 regionally matched controls. Diagnostic data specified the organ where metastases were diagnosed. We carried out a genome-wide association study on CUP cases and controls...
April 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/26919959/identification-of-environmental-quaternary-ammonium-compounds-as-direct-inhibitors-of-cholesterol-biosynthesis
#18
Josi Herron, Rosalyn C Reese, Keri A Tallman, Rohini Narayanaswamy, Ned A Porter, Libin Xu
In this study, we aim to identify environmental molecules that can inhibit cholesterol biosynthesis, potentially leading to the same biochemical defects as observed in cholesterol biosynthesis disorders, which are often characterized by congenital malformations and developmental delay. Using the Distributed Structure-Searchable Toxicity (DSSTox) Database Network developed by EPA, we first carried out in silico screening of environmental molecules that display structures similar to AY9944, a known potent inhibitor of 3β-hydroxysterol-Δ(7)-reductase (DHCR7)-the last step of cholesterol biosynthesis...
June 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/26887953/cholesterol-mediated-degradation-of-7-dehydrocholesterol-reductase-switches-the-balance-from-cholesterol-to-vitamin-d-synthesis
#19
Anika V Prabhu, Winnie Luu, Laura J Sharpe, Andrew J Brown
Cholesterol is detrimental to human health in excess but is also essential for normal embryogenesis. Hence, enzymes involved in its synthesis possess many layers of regulation to achieve balanced cholesterol levels. 7-Dehydrocholesterol reductase (DHCR7) is the terminal enzyme of cholesterol synthesis in the Kandutsch-Russell pathway, converting 7-dehydrocholesterol (7DHC) to cholesterol. In the absence of functional DHCR7, accumulation of 7DHC and a lack of cholesterol production leads to the devastating developmental disorder, Smith-Lemli-Opitz syndrome...
April 15, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26867646/specific-polymorphisms-in-the-vitamin-d-metabolism-pathway-are-not-associated-with-susceptibility-to-chlamydia-trachomatis-infection-in-humans
#20
Esmée Lanjouw, Ivan Branković, Jolein Pleijster, Joke Spaargaren, Christian J P A Hoebe, Henk J van Kranen, Sander Ouburg, Servaas A Morré
Chlamydia trachomatis is the most common sexually transmitted bacterium worldwide. Its often asymptomatic course of infection increases chances of transmission, and increases risk of late complications. Genetic variations in the host immune system are known to impact the course of infections. Recent studies have shown a positive impact of vitamin D on the regulation of the immune system. This study assesses the impact of eight polymorphisms in five genes [VDR (rs1544410 G > A, rs2228570 C > T), CYP27B1 (rs10877012 G > T), DHCR7 (rs7944926 G > A, rs3829251 G > A), GC (rs3755967) and CYP2R1 (rs10741657 G > A, rs2060793 G > A)] on susceptibility to Chlamydia infections in humans...
April 2016: Pathogens and Disease
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