keyword
https://read.qxmd.com/read/36863431/mechanism-for-the-selective-uptake-of-macular-carotenoids-mediated-by-the-hdl-cholesterol-receptor-sr-bi
#21
JOURNAL ARTICLE
Binxing Li, Evan W George, Preejith Vachali, Fu-Yen Chang, Aruna Gorusupudi, Ranganathan Arunkumar, Nathan A Giauque, Zihe Wan, Jeanne M Frederick, Paul S Bernstein
The macular carotenoids lutein and zeaxanthin are taken up from the bloodstream into the human retina through a selective process, for which the HDL cholesterol receptor scavenger receptor BI (SR-BI) in the cells of retinal pigment epithelium (RPE) is thought to be a key mediator. However, the mechanism of SR-BI-mediated selective uptake of macular carotenoids is still not fully understood. Here, we investigate possible mechanisms using biological assays and cultured HEK293 cells, a cell line without endogenous SR-BI expression...
March 1, 2023: Experimental Eye Research
https://read.qxmd.com/read/36648309/targeted-sequencing-of-a-gene-panel-in-patients-with-familial-hypercholesterolemia-from-southern-poland
#22
JOURNAL ARTICLE
Justyna Totoń-Żurańska, Paweł Wołkow, Maria Kapusta, Małgorzata Wójcik, Jerzy Starzyk, Ewa Kawalec, Barbara Idzior-Waluś, Małgorzata Waluś-Miarka
INTRODUCTION: Familial hypercholesterolemia (FH) is an autosomal dominant monogenic lipid metabolism disorder, characterized by significantly elevated LDL-cholesterol and premature ischemic heart disease. FH is caused by mutations in LDLR, APOB and PCSK9 genes, however, they account for about 40% of FH cases. In order to obtain a FH genetic diagnosis, the sequencing of other genes involved in the lipid metabolism might be useful. OBJECTIVES: This study aimed to describe genetic variants in genes associated with FH in a group of patients from the Małopolska region of Southern Poland, using a targeted next generation sequencing (NGS) technology...
January 17, 2023: Polish Archives of Internal Medicine
https://read.qxmd.com/read/36468410/progression-of-lipase-activity-and-pancreatic-lipase-immunoreactivity-in-dogs-hospitalized-for-acute-pancreatitis-and-correlation-with-clinical-features
#23
JOURNAL ARTICLE
Claudia Cueni, Natalie Hofer-Inteeworn, Claudia Kümmerle-Fraune, Claudia Müller, Peter Hendrik Kook
BACKGROUND: Lipase activity and pancreatic lipase immunoreactivity (PLI) have not been compared in dogs hospitalized for acute pancreatitis (AP). OBJECTIVES: To describe the progression of lipase activity and PLI, and correlations with clinicopathologic features in dogs with AP. ANIMALS: Thirty-nine dogs with AP based on clinical signs and lipase activity >350 U/L (reference interval [RI], 24-108 U/L). METHODS: Retrospective study...
December 5, 2022: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/36419110/whole-exome-sequencing-identifies-novel-protein-altering-variants-associated-with-serum-apolipoprotein-and-lipid-concentrations
#24
JOURNAL ARTICLE
Niina Sandholm, Ronja Hotakainen, Jani K Haukka, Fanny Jansson Sigfrids, Emma H Dahlström, Anni A Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Valma Harjutsalo, Carol Forsblom, Per-Henrik Groop
BACKGROUND: Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the burden of circulating lipoproteins. While common genetic variants modestly affect the serum lipid concentrations, rare genetic mutations can cause monogenic forms of hypercholesterolemia and other genetic disorders of lipid metabolism...
November 23, 2022: Genome Medicine
https://read.qxmd.com/read/36372100/genetic-mimicry-analysis-reveals-the-specific-lipases-targeted-by-the-angptl3-angptl8-complex-and-angptl4
#25
JOURNAL ARTICLE
Fredrik Landfors, Elin Chorell, Sander Kersten
Angiopoietin-like proteins ANGPTL3, ANGPTL4, and ANGPTL8 are involved in regulating plasma lipids. In-vitro and animal-based studies point to lipoprotein lipase (LPL) and endothelial lipase (EL, LIPG) as key targets of ANGPTLs. To examine the ANGPTL mechanisms for plasma lipid modulation in humans, we pursued a genetic mimicry analysis of enhancing or suppressing variants in the LPL, LIPG, LIPC, ANGPTL3, ANGPTL4, and ANGPTL8 genes using data on 248 metabolic parameters derived from over 110,000 non-fasted individuals in the UK Biobank and validated in over 13,000 overnight fasted individuals from 11 other European populations...
November 10, 2022: Journal of Lipid Research
https://read.qxmd.com/read/36349532/the-interindividual-variability-of-phytofluene-bioavailability-is-associated-with-a-combination-of-single-nucleotide-polymorphisms
#26
JOURNAL ARTICLE
Mark Pretzel Zumaraga, Patrick Borel, Romain Bott, Marion Nowicki, Denis Lairon, Charles Desmarchelier
SCOPE: Phytofluene is a colorless carotenoid with potential health benefits that displays a higher bioavailability compared to carotenoids such as lutein, β-carotene or lycopene. Several studies suggest its bioavailability displays an elevated interindividual variability. We here aimed to investigate whether a combination of SNPs was associated with this variability. METHODS AND RESULTS: Thirty-seven healthy adult males consumed a test meal that provided phytofluene from a tomato puree...
November 9, 2022: Molecular Nutrition & Food Research
https://read.qxmd.com/read/36274132/downregulation-of-tusc3-promotes-emt-and-hepatocellular-carcinoma-progression-through-lipc-akt-axis
#27
JOURNAL ARTICLE
Ruxia Deng, Xiansheng Lu, Chang Hong, Rui Cai, Ping Wang, Le Xiong, Xiaoyu Wang, Qiaoyu Chen, Jie Lin
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common and malignant tumors in the digestive tract. Tumor Suppressor Candidate 3 (TUSC3) is one subunit of the endoplasmic reticulum Oligosaccharyl transferase (OST) complex, which plays an important role in N-glycosylation during the protein folding process. However, the role of TUSC3 in the initiation and progression of HCC has not been mentioned yet. In the present study, we aim to investigate the effects of TUSC3 on the initiation and progression of HCC...
October 23, 2022: Journal of Translational Medicine
https://read.qxmd.com/read/36184229/genetic-factors-help-explain-the-variable-responses-of-young-children-with-cystic-fibrosis-to-vitamin-d-supplements
#28
JOURNAL ARTICLE
HuiChuan J Lai, Jie Song, Qiongshi Lu, Sangita G Murali, Manavalan Gajapathy, Brandon M Wilk, Donna M Brown, Elizabeth A Worthey, Philip M Farrell
BACKGROUND & AIMS: Children with cystic fibrosis (CF) are susceptible to fat-soluble vitamin deficiencies unless supplemented, but even large doses of vitamin D may not prevent low 25-hydroxyvitamin D (25OHD) concentrations. The explanation for these vitamin D non-responders has been elusive. We utilized data from whole genome sequencing (WGS) to test the hypothesis that genetic variations predict responsiveness to vitamin D supplementation in a prospective cohort study of children with CF in the first 3 years of life...
October 2022: Clinical Nutrition ESPEN
https://read.qxmd.com/read/36171780/interactive-effects-of-the-low-carbohydrate-diet-score-and-genetic-risk-score-on-hypo-hdl-cholesterolemia-among-korean-adults-a-cross-sectional-analysis-from-the-ansan-and-ansung-study-of-the-korean-genome-and-epidemiology-study
#29
JOURNAL ARTICLE
SoHyun Park, Min-Jae Jang, Min Young Park, Jun-Mo Kim, Sangah Shin
This cross-sectional study investigated the interaction between the genetic risk score (GRS) and abnormal high-density lipoprotein (HDL) cholesterol lipid levels, which are modified by low-carbohydrate diets (LCDs) and their effects on the prevalence of hypo-HDL-cholesterolemia (hypo-HDL-C) in Korean adults. Baseline data were obtained from the Ansan and Ansung study of the Korean Genome and Epidemiology Study (KoGES), conducted from 2001 to 2002, that targeted 8,314 Korean adults aged 40-69 years, including old men (47...
September 2022: Food Science & Nutrition
https://read.qxmd.com/read/36082566/-association-analysis-of-seven-single-nucleotide-polymorphisms-identified-by-genome-wide-association-study-with-age-related-macular-degeneration-among-ethnic-han-chinese-population
#30
JOURNAL ARTICLE
Guo Huang, Huan Li, Jialing Xiao, Liang Wang, Huijuan Xu, Chuntao Lei, Man Yu, Ping Shuai, Yuping Liu, Bo Gong, Zhenglin Yang
OBJECTIVE: To assess the association of 7 single nucleotide polymorphisms (SNPs) including rs13278062 (TNFRSF10A), rs3750846 (ARMS2-HTRA1), rs429358 (APOE), rs5817082 (CEPT), rs2043085 (LIPC), rs1626340 (TGFBR1), and rs8135665 (SLC16A8) identified through genome-wide association study (GWAS) with age-related macular degeneration (AMD) among ethnic Han Chinese from Sichuan, China. METHODS: A cohort of 576 AMD patients and 572 healthy controls were enrolled in a case-control study...
September 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/36067277/gain-of-function-variants-in-lipid-genes-enhance-biological-insight-and-point-toward-therapeutic-opportunities
#31
EDITORIAL
Sylvia Stankov, Cecilia Vitali, Daniel J Rader
No abstract text is available yet for this article.
September 6, 2022: Circulation
https://read.qxmd.com/read/36055244/integrating-transcriptomics-metabolomics-and-gwas-helps-reveal-molecular-mechanisms-for-metabolite-levels-and-disease-risk
#32
JOURNAL ARTICLE
Xianyong Yin, Debraj Bose, Annie Kwon, Sarah C Hanks, Anne U Jackson, Heather M Stringham, Ryan Welch, Anniina Oravilahti, Lilian Fernandes Silva, Adam E Locke, Christian Fuchsberger, Susan K Service, Michael R Erdos, Lori L Bonnycastle, Johanna Kuusisto, Nathan O Stitziel, Ira M Hall, Jean Morrison, Samuli Ripatti, Aarno Palotie, Nelson B Freimer, Francis S Collins, Karen L Mohlke, Laura J Scott, Eric B Fauman, Charles Burant, Michael Boehnke, Markku Laakso, Xiaoquan Wen
Transcriptomics data have been integrated with genome-wide association studies (GWASs) to help understand disease/trait molecular mechanisms. The utility of metabolomics, integrated with transcriptomics and disease GWASs, to understand molecular mechanisms for metabolite levels or diseases has not been thoroughly evaluated. We performed probabilistic transcriptome-wide association and locus-level colocalization analyses to integrate transcriptomics results for 49 tissues in 706 individuals from the GTEx project, metabolomics results for 1,391 plasma metabolites in 6,136 Finnish men from the METSIM study, and GWAS results for 2,861 disease traits in 260,405 Finnish individuals from the FinnGen study...
October 6, 2022: American Journal of Human Genetics
https://read.qxmd.com/read/36038828/pulmonary-embolism-and-529-human-blood-metabolites-genetic-correlation-and-two-sample-mendelian-randomization-study
#33
JOURNAL ARTICLE
Ruoyang Feng, Mengnan Lu, Jiawen Xu, Feng Zhang, Mingyi Yang, Pan Luo, Ke Xu, Peng Xu
BACKGROUND: The incidence of pulmonary embolism complications in the literature ranges from 10 to 50%, with a 0.5-10% risk of fatal pulmonary embolism. However, the biological cause of pulmonary embolism is unknown. METHODS: This study used data from the Genome-Wide Association Study (GWAS) of Pulmonary Embolism and Human Blood Metabolites from the UK Biobank, and the data from subjects of European ancestry were analyzed. We explored the relationship between pulmonary embolism and blood metabolites in three ways...
August 29, 2022: BMC genomic data
https://read.qxmd.com/read/35978009/lipc-variant-in-combined-hypocholesterolaemia
#34
JOURNAL ARTICLE
Gregory B Lim
No abstract text is available yet for this article.
August 17, 2022: Nature Reviews. Cardiology
https://read.qxmd.com/read/35941416/association-of-lipid-metabolism-related-gene-promoter-methylation-with-risk-of-coronary-artery-disease
#35
JOURNAL ARTICLE
Wei Li, Yongyi Wang, Ritai Huang, Feng Lian, Genxing Xu, Weijun Wang, Song Xue
BACKGROUND: Coronary artery disease (CAD) is a complex disease that is influenced by environmental and genetic factors. Lipid levels are regarded as a major risk factor for CAD, and epigenetic mechanisms might be involved in the regulation of CAD development. This study was designed to investigate the association between the DNA methylation status of 8 lipid metabolism-related genes and the risk of CAD in the Chinese Han population. METHODS: A total of 260 individuals were sampled in this study, including 120 CAD cases and 140 normal healthy controls...
August 8, 2022: Molecular Biology Reports
https://read.qxmd.com/read/35903133/peroxisome-proliferator-activated-receptor-activation-in-precision-cut-bovine-liver-slices-reveals-novel-putative-ppar-targets-in-periparturient-dairy-cows
#36
JOURNAL ARTICLE
Sebastiano Busato, Hunter R Ford, Alzahraa M Abdelatty, Charles T Estill, Massimo Bionaz
Metabolic challenges experienced by dairy cows during the transition between pregnancy and lactation (also known as peripartum), are of considerable interest from a nutrigenomic perspective. The mobilization of large amounts of non-esterified fatty acids ( NEFA ) leads to an increase in NEFA uptake in the liver, the excess of which can cause hepatic accumulation of lipids and ultimately fatty liver. Interestingly, peripartum NEFA activate the Peroxisome Proliferator-activated Receptor ( PPAR ), a transcriptional regulator with known nutrigenomic properties...
2022: Frontiers in Veterinary Science
https://read.qxmd.com/read/35899625/identification-of-a-gain-of-function-lipc-variant-as-a-novel-cause-of-familial-combined-hypocholesterolemia
#37
JOURNAL ARTICLE
Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman, Robin van Eenige, Antoine Rimbert, Amandine Caillaud, Aurélie Thedrez, Lucie Arnaud, Amanda Pronk, Damien Garçon, Thibaud Sotin, Pierre Lindenbaum, Enrique Ozcariz Garcia, Jean-Paul Pais de Barros, Laurence Duvillard, Karim Si-Tayeb, Nuria Amigo, Jean-Yves Le Questel, Patrick C N Rensen, Cédric Le May, Philippe Moulin, Bertrand Cariou
BACKGROUND: Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholesterol levels have been identified so far, and only 1 gene, ANGPTL3 , has been causally related to combined hypocholesterolemia. Here, our aim was to elucidate the genetic origin of an unexplained combined hypocholesterolemia inherited in 4 generations of a French family...
September 6, 2022: Circulation
https://read.qxmd.com/read/35884923/dyslipidaemia-genotype-interactions-with-nutrient-intake-and-cerebro-cardiovascular-disease
#38
JOURNAL ARTICLE
Sung-Bum Lee, Ja-Eun Choi, Byoungjin Park, Mi-Yeon Cha, Kyung-Won Hong, Dong-Hyuk Jung
A comprehensive understanding of gene-diet interactions is necessary to establish proper dietary guidelines to prevent and manage cardio-cerebrovascular disease (CCD). We investigated the role of genetic variants associated with dyslipidaemia (DL) and their interactions with macro-nutrients for cardiovascular disease using a large-scale genome-wide association study of Korean adults. A total of 58,701 participants from a Korean genome and epidemiology study were included. Their dietary intake was assessed using a food frequency questionnaire...
July 6, 2022: Biomedicines
https://read.qxmd.com/read/35676224/reversible-insulator-metal-transition-by-chemical-doping-and-dedoping-of-a-mott-insulator
#39
JOURNAL ARTICLE
Ryota Teruya, Tetsu Sato, Masahiro Yamashita, Noriaki Hanasaki, Akira Ueda, Masaki Matsuda
The chemical carrier doping of molecular Mott insulators has been poorly investigated to date due to its difficulty. In this study, iodine doping of a molecular Mott insulator, lithium phthalocyanine crystallized in the x-form (x-LiPc), was performed to obtain metallic x-LiPcI. Crystal structure analysis revealed that iodine atoms penetrated channels of x-LiPc and formed one-dimensional chains. The Raman spectroscopy of x-LiPcI indicated the existence of linear I5 - , demonstrating a transition from a half-filled band of the Mott insulating state to a 2/5-filled band of the metallic state...
August 22, 2022: Angewandte Chemie
https://read.qxmd.com/read/35626432/effects-of-different-scan-duration-on-brain-effective-connectivity-among-default-mode-network-nodes
#40
JOURNAL ARTICLE
Nor Shafiza Abdul Wahab, Noorazrul Yahya, Ahmad Nazlim Yusoff, Rozman Zakaria, Jegan Thanabalan, Elza Othman, Soon Bee Hong, Ramesh Kumar Athi Kumar, Hanani Abdul Manan
BACKGROUND: Resting-state functional magnetic resonance imaging (rs-fMRI) can evaluate brain functional connectivity without requiring subjects to perform a specific task. This rs-fMRI is very useful in patients with cognitive decline or unable to respond to tasks. However, long scan durations have been suggested to measure connectivity between brain areas to produce more reliable results, which are not clinically optimal. Therefore, this study aims to evaluate a shorter scan duration and compare the scan duration of 10 and 15 min using the rs-fMRI approach...
May 20, 2022: Diagnostics
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