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https://www.readbyqxmd.com/read/29522525/using-genome-wide-association-studies-to-identify-common-qtl-regions-in-three-different-genetic-backgrounds-based-on-iberian-pig-breed
#1
Ángel M Martínez-Montes, Almudena Fernández, María Muñoz, Jose Luis Noguera, Josep M Folch, Ana I Fernández
One of the major limitation for the application of QTL results in pig breeding and QTN identification has been the limited number of QTL effects validated in different animal material. The aim of the current work was to validate QTL regions through joint and specific genome wide association and haplotype analyses for growth, fatness and premier cut weights in three different genetic backgrounds, backcrosses based on Iberian pigs, which has a major role in the analysis due to its high productive relevance. The results revealed nine common QTL regions, three segregating in all three backcrosses on SSC1, 0-3 Mb, for body weight, on SSC2, 3-9 Mb, for loin bone-in weight, and on SSC7, 3 Mb, for shoulder weight, and six segregating in two of the three backcrosses, on SSC2, SSC4, SSC6 and SSC10 for backfat thickness, shoulder and ham weights...
2018: PloS One
https://www.readbyqxmd.com/read/29514927/a-vcp-inhibitor-substrate-trapping-approach-vista-enables-proteomic-profiling-of-endogenous-erad-substrates
#2
Edmond Y Huang, Milton To, Erica Tran, Lorraine T Ador Dionisio, Hyejin J Cho, Katherine L M Baney, Camille I Pataki, James A Olzmann
Endoplasmic reticulum (ER)-associated degradation (ERAD) mediates the proteasomal clearance of proteins from the early secretory pathway. In this process, ubiquitinated substrates are extracted from membrane-embedded dislocation complexes by the AAA ATPase VCP and targeted to the cytosolic 26S proteasome. In addition to its well-established role in the degradation of misfolded proteins, ERAD also regulates the abundance of key proteins such as enzymes involved in cholesterol synthesis. However, due to the lack of generalizable methods, our understanding of the scope of proteins targeted by ERAD remains limited...
March 7, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29514138/effects-of-gene-variants-controlling-vitamin-d-metabolism-and-serum-levels-on-hepatic-steatosis
#3
Małgorzata Jamka, Anita Arslanow, Annika Bohner, Marcin Krawczyk, Susanne N Weber, Frank Grünhage, Frank Lammert, Caroline S Stokes
BACKGROUND/AIMS: Common genetic variations in vitamin D metabolism are associated with liver stiffness. Whether these genes are implicated in hepatic steatosis remains unclear. Here we aimed to analyse the association of common vitamin D pathway gene variants with liver steatosis. METHODS: Liver steatosis was assessed non-invasively in 241 patients with chronic liver conditions by controlled attenuation parameter (CAP). The following polymorphisms were genotyped using TaqMan assays: group-specific component (GC) rs7041, 7-dehydrocholesterol reductase (DHCR7) rs12785878, cytochrome P450 2R1 (CYP2R1) rs10741657, -vitamin D receptor (VDR) rs7974353...
March 7, 2018: Digestion
https://www.readbyqxmd.com/read/29455191/smith-lemli-opitz-syndrome-clinical-and-biochemical-correlates
#4
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29454312/effects-of-a-wide-range-of-dietary-forage-to-concentrate-ratios-on-nutrient-utilization-and-hepatic-transcriptional-profiles-in-limit-fed-holstein-heifers
#5
Haitao Shi, Jun Zhang, Shengli Li, Shoukun Ji, Zhijun Cao, Hongtao Zhang, Yajing Wang
BACKGROUND: Improving the efficiency of animal production is a relentless pursuit of ruminant producers. Energy utilization and partition can be affected by dietary composition and nutrient availability. Furthermore, the liver is the central metabolic intersection in cattle. However, the specific metabolic changes in the liver under conditions of limit-feeding remain unclear and require further study. The present study aimed to elucidate the effects of a wide range of dietary forage:concentrate ratios (F:C) on energy utilization, and identify potential changes in molecular metabolism by analyzing hepatic transcriptional profiles...
February 17, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29433144/smith-lemli-opitz-mutations-in-unexplained-stillbirths
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
April 2018: 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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