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https://www.readbyqxmd.com/read/29433144/smith-lemli-opitz-mutations-in-unexplained-stillbirths
#1
Karen J Gibbins, Uma M Reddy, George R Saade, Robert L Goldenberg, Donald J Dudley, Corette B Parker, Vanessa Thorsten, Halit Pinar, Radek Bukowski, Carol J Hogue, Robert M Silver
OBJECTIVE:  Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrocholesterol reductase (DHCR7). A total of 3% of Caucasians carry DHCR7 mutations, theoretically resulting in a homozygote frequency of 1/4000. However, SLOS occurs in only 1/20,000 to 60,000 live births. Our objective was to assess DHCR7 mutations in unexplained stillbirths. STUDY DESIGN:  Prospective, multicenter, population-based case-control study of all stillbirths and a representative sample of live births enrolled in five geographic areas...
February 12, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29352199/prevention-of-retinal-degeneration-in-a-rat-model-of-smith-lemli-opitz-syndrome
#2
Steven J Fliesler, Neal S Peachey, Josi Herron, Kelly M Hines, Nadav I Weinstock, Sriganesh Ramachandra Rao, Libin Xu
Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL. Formation and abnormal accumulation of 7DHC and 7DHC-derived oxysterols occur in SLOS patients and in rats treated with the DHCR7 inhibitor AY9944. The rat SLOS model exhibits progressive and irreversible retinal dysfunction and degeneration, which is only partially ameliorated by dietary CHOL supplementation...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343764/genome-wide-association-study-in-79-366-european-ancestry-individuals-informs-the-genetic-architecture-of-25-hydroxyvitamin-d-levels
#3
Xia Jiang, Paul F O'Reilly, Hugues Aschard, Yi-Hsiang Hsu, J Brent Richards, Josée Dupuis, Erik Ingelsson, David Karasik, Stefan Pilz, Diane Berry, Bryan Kestenbaum, Jusheng Zheng, Jianan Luan, Eleni Sofianopoulou, Elizabeth A Streeten, Demetrius Albanes, Pamela L Lutsey, Lu Yao, Weihong Tang, Michael J Econs, Henri Wallaschofski, Henry Völzke, Ang Zhou, Chris Power, Mark I McCarthy, Erin D Michos, Eric Boerwinkle, Stephanie J Weinstein, Neal D Freedman, Wen-Yi Huang, Natasja M Van Schoor, Nathalie van der Velde, Lisette C P G M de Groot, Anke Enneman, L Adrienne Cupples, Sarah L Booth, Ramachandran S Vasan, Ching-Ti Liu, Yanhua Zhou, Samuli Ripatti, Claes Ohlsson, Liesbeth Vandenput, Mattias Lorentzon, Johan G Eriksson, M Kyla Shea, Denise K Houston, Stephen B Kritchevsky, Yongmei Liu, Kurt K Lohman, Luigi Ferrucci, Munro Peacock, Christian Gieger, Marian Beekman, Eline Slagboom, Joris Deelen, Diana van Heemst, Marcus E Kleber, Winfried März, Ian H de Boer, Alexis C Wood, Jerome I Rotter, Stephen S Rich, Cassianne Robinson-Cohen, Martin den Heijer, Marjo-Riitta Jarvelin, Alana Cavadino, Peter K Joshi, James F Wilson, Caroline Hayward, Lars Lind, Karl Michaëlsson, Stella Trompet, M Carola Zillikens, Andre G Uitterlinden, Fernando Rivadeneira, Linda Broer, Lina Zgaga, Harry Campbell, Evropi Theodoratou, Susan M Farrington, Maria Timofeeva, Malcolm G Dunlop, Ana M Valdes, Emmi Tikkanen, Terho Lehtimäki, Leo-Pekka Lyytikäinen, Mika Kähönen, Olli T Raitakari, Vera Mikkilä, M Arfan Ikram, Naveed Sattar, J Wouter Jukema, Nicholas J Wareham, Claudia Langenberg, Nita G Forouhi, Thomas E Gundersen, Kay-Tee Khaw, Adam S Butterworth, John Danesh, Timothy Spector, Thomas J Wang, Elina Hyppönen, Peter Kraft, Douglas P Kiel
Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10-9 at rs8018720 in SEC23A, and P = 1...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29325163/trans-ethnic-evaluation-identifies-novel-low-frequency-loci-associated-with-25-hydroxyvitamin-d-concentrations
#4
Jaeyoung Hong, Kathryn E Hatchell, Jonathan P Bradfield, Bjonnes Andrew, Chesi Alessandra, Lai Chao-Qiang, Carl D Langefeld, Lingyi Lu, Yingchang Lu, Pamela L Lutsey, Solomon K Musani, Mike A Nalls, Cassianne Robinson-Cohen, Jeffery D Roizen, Richa Saxena, Katherine L Tucker, Julie T Ziegler, Dan E Arking, Joshua C Bis, Eric Boerwinkle, Erwin P Bottinger, Donald W Bowden, Vincente Gilsanz, Denise K Houston, Heidi J Kalkwarf, Andrea Kelly, Joan M Lappe, Yongmei Liu, Erin D Michos, Sharon E Oberfield, Nicholette D Palmer, Jerome I Rotter, Bishwa Sapkota, John A Shepherd, James G Wilson, Saonli Basu, Ian H de Boer, Jasmin Divers, Barry I Freedman, Struan F A Grant, Hakon Hakanarson, Tamara B Harris, Bryan R Kestenbaum, Stephen B Kritchevsky, Ruth J F Loos, Jill M Norris, Arnita F Norwood, Jose M Ordovas, James S Pankow, Bruce M Psaty, Dharambir K Sanhgera, Lynne E Wagenknecht, Babette S Zemel, James Meigs, Josée Dupuis, Jose C Florez, Thomas Wang, Ching-Ti Liu, Corinne D Engelman, Liana K Billings
Context: Vitamin D inadequacy is common in the adult population of the United States. While the genetic determinants underlying vitamin D inadequacy have been studied in people of European ancestry, less is known in Hispanic or African ancestry populations. Objective: The TRANSCEN-D (TRANS-ethniC Evaluation of vitamiN D GWAS) consortium was assembled to replicate genetic associations with 25-hydroxyvitamin D (25(OH)D) concentrations from the meta-analyses of European ancestry (SUNLIGHT) and to identify novel genetic variants related to vitamin D concentrations in African and Hispanic ancestries...
January 9, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29315215/association-between-vitamin-d-genetic-risk-score-and-cancer-risk-in-a-large-cohort-of-u-s-women
#5
Paulette D Chandler, Deirdre K Tobias, Lu Wang, Stephanie A Smith-Warner, Daniel I Chasman, Lynda Rose, Edward L Giovannucci, Julie E Buring, Paul M Ridker, Nancy R Cook, JoAnn E Manson, Howard D Sesso
Some observational studies suggest an inverse association between circulating 25-hydroxyvitamin D (25OHD) and cancer incidence and mortality. We conducted a Mendelian randomization analysis of the relationship between a vitamin D genetic risk score (GRS, range 0-10), comprised of five single nucleotide polymorphisms (SNPs) of vitamin D status in the DHCR7, CYP2R1 and GC genes and cancer risk among women. Analysis was performed in the Women's Genome Health Study (WGHS), including 23,294 women of European ancestry who were cancer-free at baseline and followed for 20 years for incident cancer...
January 9, 2018: Nutrients
https://www.readbyqxmd.com/read/29300326/computational-investigation-of-the-missense-mutations-in-dhcr7-gene-associated-with-smith-lemli-opitz-syndrome
#6
Yunhui Peng, Rebecca Myers, Wenxing Zhang, Emil Alexov
Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene (DHCR7) encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis pathway. Here we demonstrate that pathogenic mutations in DHCR7 protein are located either within the transmembrane region or are near the ligand-binding site, and are highly conserved among species. In contrast, non-pathogenic mutations observed in the general population are located outside the transmembrane region and have different effects on the conformational dynamics of DHCR7...
January 4, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29287921/the-effect-of-age-and-gender-on-the-genetic-regulation-of-serum-25-hydroxyvitamin-d-the-fin-d2d-population-based-study
#7
Maija E Miettinen, Melissa C Smart, Leena Kinnunen, Sirkka Keinänen-Kiukaanniemi, Leena Moilanen, Hannu Puolijoki, Juha Saltevo, Heikki Oksa, Graham A Hitman, Jaakko Tuomilehto, Markku Peltonen
In addition to sunlight and dietary sources, several genes in the metabolic pathway of vitamin D affect serum 25-hydroxyvitamin D (25OHD) concentration. It is not known whether this genetic regulation is influenced by host characteristics. We investigated the effect of age and gender on the genetic regulation of serum 25OHD concentration. In total, 2868 Finnish men and women aged 45-74 years participated in FIN-D2D population-based health survey in 2007. Of the 2822 participants that had serum 25OHD concentration available, 2757 were successfully genotyped...
December 26, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29232835/expression-profile-of-genes-regulating-steroid-biosynthesis-and-metabolism-in-human-ovarian-granulosa-cells-a-primary-culture-approach
#8
Wiesława Kranc, Maciej Brązert, Katarzyna Ożegowska, Mariusz J Nawrocki, Joanna Budna, Piotr Celichowski, Marta Dyszkiewicz-Konwińska, Maurycy Jankowski, Michal Jeseta, Leszek Pawelczyk, Małgorzata Bruska, Michał Nowicki, Maciej Zabel, Bartosz Kempisty
Because of the deep involvement of granulosa cells in the processes surrounding the cycles of menstruation and reproduction, there is a great need for a deeper understanding of the ways in which they function during the various stages of those cycles. One of the main ways in which the granulosa cells influence the numerous sex associated processes is hormonal interaction. Expression of steroid sex hormones influences a range of both primary and secondary sexual characteristics, as well as regulate the processes of oogenesis, folliculogenesis, ovulation, and pregnancy...
December 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29153269/vitamin-d-pathway-gene-polymorphisms-influenced-vitamin-d-level-among-pregnant-women
#9
Bule Shao, Shuying Jiang, Xiamusiye Muyiduli, Shuojia Wang, Minjia Mo, Minchao Li, Zhaopin Wang, Yunxian Yu
AIMS: To explore the relationship between vitamin D pathway genes, gene-environment interactions and vitamin D level among southeast Chinese pregnant women. METHODS: 759 participants from Zhoushan Pregnant Women Cohort (ZPWC) study, were enrolled from August 2011 to April 2014 in China. Plasma 25(OH)D levels and genetic variants in vitamin D pathway (NADSYN1/DHCR7, GC, CYP3A4, CYP2R1, CYP27A1, CYP27B1, VDR, CYP24A1, and LRP2) were measured using the blood sample collected at the first trimester...
November 7, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29143981/high-plasma-25-hydroxyvitamin-d-and-high-risk-of-non-melanoma-skin-cancer-a-mendelian-randomisation-study-of-97849-individuals
#10
U C Winsløw, B G Nordestgaard, S Afzal
BACKGROUND: High plasma 25-hydroxyvitamin D (25 (OH)D) concentration has been associated observationally with high risk of non-melanoma skin cancer, while many studies suggest that vitamin D could have a protective effect on cancer. The true association between vitamin D and risk of skin cancer remains unclear. OBJECTIVES: In this Mendelian randomisation study we tested the hypothesis that genetically high plasma 25(OH)D protects against non-melanoma skin cancer...
November 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29038561/vitamin-d-and-cognitive-function-a-mendelian-randomisation-study
#11
Jane Maddock, Ang Zhou, Alana Cavadino, Elżbieta Kuźma, Yanchun Bao, Melissa C Smart, Kai-Uwe Saum, Ben Schöttker, Jorgen Engmann, Marie Kjærgaard, Ville Karhunen, Yiqiang Zhan, Terho Lehtimäki, Suvi P Rovio, Liisa Byberg, Jari Lahti, Pedro Marques-Vidal, Abhijit Sen, Laura Perna, Henrik Schirmer, Archana Singh-Manoux, Juha Auvinen, Nina Hutri-Kähönen, Mika Kähönen, Lena Kilander, Katri Räikkönen, Håkan Melhus, Erik Ingelsson, Idris Guessous, Katja E Petrovic, Helena Schmidt, Reinhold Schmidt, Peter Vollenweider, Lars Lind, Johan G Eriksson, Karl Michaëlsson, Olli T Raitakari, Sara Hägg, Nancy L Pedersen, Karl-Heinz Herzig, Marjo-Riitta Järvelin, Juha Veijola, Mika Kivimaki, Rolf Jorde, Hermann Brenner, Meena Kumari, Chris Power, David J Llewellyn, Elina Hyppönen
The causal nature of the association between hypovitaminosis D and poor cognitive function in mid- to later-life is uncertain. Using a Mendelian randomisation(MR) approach, we examined the causal relationship between 25(OH)D and cognitive function. Data came from 172,349 participants from 17 cohorts. DHCR7(rs12785878), CYP2R1 rs12794714) and their combined synthesis score were chosen to proxy 25(OH)D. Cognitive tests were standardised into global and memory scores. Analyses were stratified by 25(OH)D tertiles, sex and age...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29033534/multicellular-tumor-spheroids-of-human-uveal-melanoma-induce-genes-associated-with-anoikis-resistance-lipogenesis-and-ssxs
#12
Charlotte Ness, Øystein Garred, Nils A Eide, Theresa Kumar, Ole K Olstad, Thomas P Bærland, Goran Petrovski, Morten C Moe, Agate Noer
PURPOSE: Uveal melanoma (UM) has a high propensity for metastatic spread, and approximately 40-50% of patients die of metastatic disease. Metastases can be found at the time of diagnosis but also several years after the tumor has been removed. The survival of disseminated cancer cells is known to be linked to anchorage independence, anoikis resistance, and an adaptive cellular metabolism. The cultivation of cancer cells as multicellular tumor spheroids (MCTS) by anchorage-independent growth enriches for a more aggressive phenotype...
2017: Molecular Vision
https://www.readbyqxmd.com/read/29024632/quantitative-proteome-analysis-of-bovine-mammary-gland-reveals-protein-dynamic-changes-involved-in-peak-and-late-lactation-stages
#13
Xianrui Zheng, Chao Ning, Yichun Dong, Pengju Zhao, Junhui Li, Ziyao Fan, Jiang Li, Ying Yu, Raphael Mrode, Jian-Feng Liu
Mammary gland is an important organ for milk synthesis and secretion. It undergoes dramatic physiological changes to adapt the shift from peak to late lactation stage. Protein plays a final very vital role in many life functions, and the protein changes during different lactation stages potentially reflect the biology of lactation and the functions of mammary gland in cows. In current study, we adopted tandem mass tags label-based quantitative analysis technique and to investigate proteome changes occurring in bovine mammary gland from peak to late lactation stages...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28972118/vulnerability-of-dhcr7-mutation-carriers-to-aripiprazole-and-trazodone-exposure
#14
Zeljka Korade, Thiago C Genaro-Mattos, Keri A Tallman, Wei Liu, Krassimira A Garbett, Katalin Koczok, Istvan Balogh, Karoly Mirnics, Ned A Porter
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1-3%. A defective DHCR7 causes accumulation of 7-dehydrocholesterol (DHC), which is a highly oxidizable and toxic compound. Recent studies suggest that several antipsychotics, including the highly prescribed pharmaceuticals, aripiprazole (ARI) and trazodone (TRZ), increase 7-DHC levels in vitro and in humans. Our investigation was designed to compare the effects of ARI and TRZ on cholesterol (Chol) synthesis in fibroblasts from DHCR7(+/-) human carriers and controls (CTRs)...
November 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28938476/fetal-and-maternal-genetic-variants-influencing-neonatal-vitamin-d-status
#15
Ketil Størdal, Karl Mårild, German Tapia, Margareta Haugen, Arieh S Cohen, Benedicte A Lie, Lars C Stene
Objective: Several genetic polymorphisms determine vitamin D status. We aimed to estimate the strength of association of established 25-hydroyxvitamin D (25OHD)-associated variants in the mother and in the fetus, with 25OHD concentration in newborn umbilical cord plasma. Methods: We randomly selected 578 mother and child dyads from the prospective Norwegian Mother and Child Cohort study. 25OHD was assayed in maternal samples taken shortly after delivery and in cord samples...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28864453/no-association-of-vitamin-d-pathway-genetic-variants-with-cancer-risks-in-a-population-based-cohort-of-german-older-adults
#16
José Manuel Ordóñez-Mena, Ben Schöttker, Kai U Saum, Bernd Holleczek, Barbara Burwinkel, Thomas J Wang, Hermann Brenner
Background: Several investigations assessed the association of vitamin D receptor (VDR) SNPs with cancer risk. Less is known about the implications of other vitamin D pathway SNPs on cancer risk.Methods: In a population-based cohort study of 9,949 German older adults, we used Cox regression to assess the association of 6 SNPs in the VDR, vitamin D-binding protein (GC), 7-dehydrocholesterol reductase (DHCR7), vitamin D 25-hydroxylase (CYP2R1), and vitamin D 24-hydroxylase (CYP24A1) genes with total and site-specific cancer incidence endpoints...
September 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28834607/association-of-baseline-vitamin-d-level-with-genetic-determinants-and-virologic-response-in-patients-with-chronic-hepatitis-b
#17
Rui Yu, Deming Tan, Qin Ning, Junqi Niu, Xuefan Bai, Shijun Chen, Jun Cheng, Yanyan Yu, Hao Wang, Min Xu, Guangfeng Shi, Mobin Wan, Xinyue Chen, Hong Tang, Jifang Sheng, Xiaoguang Dou, Junping Shi, Hong Ren, Maorong Wang, Hongfei Zhang, Zhiliang Gao, Chengwei Chen, Hong Ma, Jidong Jia, Jinlin Hou, Qing Xie, Jian Sun
AIM: The role of vitamin D in individuals with chronic hepatitis B (CHB) is unclear. We aimed to explore the association of baseline vitamin D level with genetic determinants and week-104 treatment outcome in CHB patients. METHODS: Baseline serum 25-hydroxycholecalciferol [25(OH)D] levels and genetic polymorphism within GC, DHCR7 and CYP2R1 were determined in stored serum of 560 patients who were enrolled into a multicenter, randomized, controlled study and completed the 104-week telbivudine monotherapy or telbivudine-based optimized therapy...
August 23, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28830874/single-nucleotide-polymorphisms-in-vitamin-d-related-genes-may-modify-vitamin-d-breast-cancer-associations
#18
Katie M O'Brien, Dale P Sandler, H Karimi Kinyamu, Jack A Taylor, Clarice R Weinberg
BACKGROUND: We previously observed that high serum 25-hydroxyvitamin D [25(OH)D] (>38.0 ng/mL) was inversely associated with breast cancer. Here, we examined effect modification by single nucleotide polymorphisms (SNPs) in vitamin D-related genes. METHODS: The Sister Study enrolled 50,884 US women who had a sister with breast cancer, but who had never had breast cancer themselves. Using a case-cohort design, we compared 1,524 women who developed breast cancer within 5 years to 1,810 randomly selected participants...
October 25, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#19
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28760944/vitamin-d-hypertension-and-ischemic-stroke-in-116-655-individuals-from-the-general-population-a-genetic-study
#20
Shoaib Afzal, Børge G Nordestgaard
Observational studies indicate that low concentrations of plasma 25-hydroxyvitamin D (25(OH)D) are associated with high blood pressure, hypertension, and ischemic stroke. However, whether these associations are causal remain unknown. A total of 116 655 white individuals of Danish descent from the general population were genotyped for genetic variants in DHCR7 and CYP2R1 affecting plasma 25(OH)D concentrations; 35 517 had plasma 25(OH)D measurements. Primary outcomes were blood pressure, hypertension, and ischemic stroke...
July 31, 2017: Hypertension
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