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https://www.readbyqxmd.com/read/29024632/quantitative-proteome-analysis-of-bovine-mammary-gland-reveals-protein-dynamic-changes-involved-in-peak-and-late-lactation-stages
#1
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...
October 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28972118/vulnerability-of-dhcr7-mutation-carriers-to-aripiprazole-and-trazodone-exposure
#2
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-dehyrocholesterol reductase (DHCR7) with a heterozygous carrier frequency of 1-3%. A defective DHCR7 causes accumulation of 7-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 synthesis in fibroblasts from DHCR7+/- human carriers and controls...
September 28, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28938476/fetal-and-maternal-genetic-variants-influencing-neonatal-vitamin-d-status
#3
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 (MoBa). 25OHD was assayed in maternal samples taken shortly after delivery and in cord samples...
August 18, 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
#4
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
#5
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
#6
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...
August 22, 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
#7
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
#8
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
https://www.readbyqxmd.com/read/28708512/insulin-during-in%C3%A2-vitro-oocyte-maturation-has-an-impact-on-development-mitochondria-and-cytoskeleton-in-bovine-day-8-blastocysts
#9
Denise Laskowski, Renée Båge, Patrice Humblot, Göran Andersson, Marc-André Sirard, Ylva Sjunnesson
Insulin is a key metabolic hormone that controls energy homeostasis in the body, including playing a specific role in regulating reproductive functions. Conditions associated with hyperinsulinemia can lower developmental rates in bovine in vitro embryo production and are linked to decreased fertility in humans, as in cases of obesity or type 2 diabetes. Embryo quality is important for fertility outcome and it can be assessed by choosing scoring standards for various characteristics, such as developmental stage, quality grade, cell number, mitochondrial pattern or actin cytoskeleton structure...
June 13, 2017: Theriogenology
https://www.readbyqxmd.com/read/28706201/genotypic-variability-based-association-identifies-novel-non-additive-loci-dhcr7-and-irf4-in-sero-negative-rheumatoid-arthritis
#10
Wen-Hua Wei, Sebastien Viatte, Tony R Merriman, Anne Barton, Jane Worthington
Sero-negative rheumatoid arthritis (RA) is a highly heterogeneous disorder with only a few additive loci identified to date. We report a genotypic variability-based genome-wide association study (vGWAS) of six cohorts of sero-negative RA recruited in Europe and the US that were genotyped with the Immunochip. A two-stage approach was used: (1) a mixed model to partition dichotomous phenotypes into an additive component and non-additive residuals on the liability scale and (2) the Levene's test to assess equality of the residual variances across genotype groups...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28703134/genetic-variants-underlying-vitamin-d-metabolism-and-vdr-tgf%C3%AE-1-smad3-interaction-may-impact-on-hcv-progression-a-study-based-on-dbgap-data-from-the-halt-c-study
#11
Laura A de Azevedo, Ursula Matte, Themis R da Silveira, Mário R Álvares-da-Silva
Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT-C study followed 692 chronic HCV patients over 4 years, evaluating clinical outcomes including worsening of fibrosis, hepatic decompensation (gastric/esophageal bleeding, CTP>7, ascites, spontaneous bacterial peritonitis and encephalopathy), development of hepatocellular carcinoma, and liver death...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28651595/identification-of-pathogenic-genes-and-upstream-regulators-in-age-related-macular-degeneration
#12
Bin Zhao, Mengya Wang, Jing Xu, Min Li, Yuhui Yu
BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in older individuals. Our study aims to identify the key genes and upstream regulators in AMD. METHODS: To screen pathogenic genes of AMD, an integrated analysis was performed by using the microarray datasets in AMD derived from the Gene Expression Omnibus (GEO) database. The functional annotation and potential pathways of differentially expressed genes (DEGs) were further discovered by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis...
June 26, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28641477/application-of-whole-genome-sequencing-technology-in-the-investigation-of-genetic-causes-of-fetal-perinatal-and-early-infant-death
#13
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid Ma Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek, Deon J Venter
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28594127/no-clear-support-for-a-role-for-vitamin-d-in-parkinson-s-disease-a-mendelian-randomization-study
#14
Susanna C Larsson, Andrew B Singleton, Mike A Nalls, J Brent Richards
BACKGROUND: Observational studies have found that relative to healthy controls, patients with Parkinson's disease have lower circulating concentrations of 25-hydroxyvitamin D, a clinical biomarker of vitamin D status. However, the causality of this association is uncertain. We undertook a Mendelian randomization study to investigate whether genetically decreased 25-hydroxyvitamin D concentrations are associated with PD to minimize confounding and prevent bias because of reverse causation...
June 8, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28586461/genetically-low-vitamin-d-concentrations-and-myopic-refractive-error-a-mendelian-randomization-study
#15
Gabriel Cuellar-Partida, Katie M Williams, Seyhan Yazar, Jeremy A Guggenheim, Alex W Hewitt, Cathy Williams, Jie Jin Wang, Pik-Fang Kho, Seang Mei Saw, Ching-Yu Cheng, Tien Yin Wong, Tin Aung, Terri L Young, J Willem L Tideman, Jost B Jonas, Paul Mitchell, Robert Wojciechowski, Dwight Stambolian, Pirro Hysi, Christopher J Hammond, David A Mackey, Robyn M Lucas, Stuart MacGregor
Background: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and myopia. However, in such studies it is difficult to separate the effects of time outdoors and vitamin D levels. In this work we use Mendelian randomization (MR) to assess if genetically determined 25(OH)D levels contribute to the degree of myopia...
June 6, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28575224/response-to-antenatal-cholecalciferol-supplementation-is-associated-with-common-vitamin-d-related-genetic-variants
#16
RANDOMIZED CONTROLLED TRIAL
Rebecca J Moon, Nicholas C Harvey, Cyrus Cooper, Stefania D'Angelo, Elizabeth M Curtis, Sarah R Crozier, Sheila J Barton, Sian M Robinson, Keith M Godfrey, Nikki J Graham, John W Holloway, Nicholas J Bishop, Stephen Kennedy, Aris T Papageorghiou, Inez Schoenmakers, Robert Fraser, Saurabh V Gandhi, Ann Prentice, Hazel M Inskip, M Kassim Javaid
Context: Single-nucleotide polymorphisms (SNPs) in genes related to vitamin D metabolism have been associated with serum 25-hydroxyvitamin D [25(OH)D] concentration, but these relationships have not been examined following antenatal cholecalciferol supplementation. Objective: To determine whether SNPs in DHCR7, CYP2R1, CYP24A1, and GC are associated with the response to gestational cholecalciferol supplementation. Design: Within-randomization group analysis of the Maternal Vitamin D Osteoporosis Study trial of antenatal cholecalciferol supplementation...
August 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#17
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28484475/de-novo-sequencing-and-transcriptome-analysis-reveal-key-genes-regulating-steroid-metabolism-in-leaves-roots-adventitious-roots-and-calli-of-periploca-sepium-bunge
#18
Jian Zhang, Xinglin Li, Fuping Lu, Shanying Wang, Yunhe An, Xiaoxing Su, Xiankuan Li, Lin Ma, Guangjian Han
Periploca sepium Bunge is a traditional medicinal plant, whose root bark is important for Chinese herbal medicine. Its major bioactive compounds are C21 steroids and periplocin, a kind of cardiac glycoside, which are derived from the steroid synthesis pathway. However, research on P. sepium genome or transcriptomes and their related genes has been lacking for a long time. In this study we estimated this species nuclear genome size at 170 Mb (using flow cytometry). Then, RNA sequencing of four different tissue samples of P...
2017: Frontiers in Plant Science
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
#19
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
#20
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...
March 2017: British Journal of Nutrition
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