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https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#1
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#2
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29777060/protease-activated-receptor-1-inhibits-cholesterol-efflux-and-promotes-atherogenesis-via-cullin-3-mediated-degradation-of-the-abca1-transporter
#3
Somasundaram Raghavan, Nikhlesh K Singh, Arul M Mani, Gadiparthi N Rao
Although signaling of thrombin via its receptor protease-activated receptor 1 (Par1) is known to occur in atherothrombosis, its link to the actual pathogenesis of this condition is less clear. To better understand the role of thrombin-Par1 signaling in atherosclerosis, here we have studied their effects on cellular cholesterol efflux in mice. We found that by activating Par1 and cullin 3-mediated ubiquitination and degradation of ATP-binding cassette subfamily A member 1 (ABCA1), thrombin inhibits cholesterol efflux in both murine macrophages and smooth muscle cells...
May 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29776682/the-impact-of-apolipoprotein-e-alleles-on-cognitive-performance-in-patients-with-parkinson-s-disease
#4
Anna Pierzchlińska, Monika Białecka, Mateusz Kurzawski, Jarosław Sławek
Apolipoprotein E (ApoE) is a vital component of several lipoproteins and plays a major role in lipid metabolism. APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. However, the impact of APOE genotypes on Parkinson's Disease Dementia (PDD) is still inconclusive. The PDD diagnostic criteria are very inconsistent, and could be complemented with genetic factors...
May 5, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29770843/patterns-and-severity-of-vascular-amyloid-in-alzheimer-s-disease-associated-with-duplications-and-missense-mutations-in-app-gene-down-syndrome-and-sporadic-alzheimer-s-disease
#5
David M A Mann, Yvonne S Davidson, Andrew C Robinson, Nancy Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, Vee Prasher, Takeshi Iwatsubo, Andre Strydom
In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes...
May 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29769839/a-novel-association-of-polymorphism-in-the-itga4-gene-encoding-the-vla-4-%C3%AE-4-subunit-with-increased-risk-of-alzheimer-s-disease
#6
Vladimira Durmanova, Zuzana Parnicka, Juraj Javor, Gabriel Minarik, Lubomir Vrazda, Barbora Vaseckova, Karin Gmitterova, Maria Kralova, Jan Pecenak, Peter Filipcik, Ivana Shawkatova
Alzheimer's disease (AD) is the most prevalent cause of dementia in elderly people worldwide. Many studies support the hypothesis that the inflammation of the CNS contributes to the neurodegeneration and disease progression. The integrin molecule α 4 β 1, also known as very late antigen 4 (VLA-4), belongs to adhesion molecules that activate the inflammatory process through the migration of immune cells into the CNS. Therefore, the objective of our study was to analyze the association between two polymorphisms located in the ITGA4 gene encoding the α 4 subunit of VLA-4 and the risk of AD...
2018: Mediators of Inflammation
https://www.readbyqxmd.com/read/29769419/heart-rate-reduction-with-ivabradine-in-the-early-phase-of-atherosclerosis-is-protective-in-the-endothelium-of-apoe-deficient-mice
#7
G Aquila, M B Morelli, F Vieceli Dalla Sega, F Fortini, P Nigro, C Caliceti, M Ferracin, M Negrini, A Pannuti, M Bonora, P Pinton, R Ferrari, P Rizzo
Ivabradine, a heart rate reducing agent, protects the vascular system by unidentified mechanisms. We sought to determine the effects of the treatment with ivabradine, started before plaque formation, on early transcriptional changes and endothelium lesions in regions of aorta subjected to disturbed blood flow. Six week-old apolipoprotein E-deficient (ApoE-/- ) mice, fed a low-fat diet, were treated with ivabradine to determine the effect on transcriptional changes (2-and 4-week treatment) and on lesions formation (19-week treatment) in the endothelium of the aortic arch...
February 2018: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/29764032/-genes-polymorphism-of-bin1-and-apoe-in-patients-with-amnestic-mild-cognitive-impairment-from-enshi-tujia-area
#8
J Chen, Y Xia, C L Gao, R X Wang, Z N Lu
Objective: To investigate the polymorphism of BIN1 and ApoE genes in amnestic mild cognitive impairment (aMCI) patients in Tujia minority area of Enshi, Hubei. Methods: A total of 107 patients with aMCI (aMCI group) and 150 healthy people (healthy control group) during the same period were included between December 2016 and October 2017 in Affiliated Minda Hospital of Hubei University for Nationalities, who were all the Tujia nationality. Three single nucleotide polymorphic site of BIN1 gene rs744373, rs7561528, rs6733839, and two single nucleotide polymorphic site of ApoE gene rs429358, rs7412, and Genotyping and sub-genotyping of ApoE genes were tested using ligase detection reaction technique(LDR), and gene polymorphisms of BIN1 and ApoE were analyzed with Logistic regression analysis...
May 8, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29761124/progranulin-levels-in-blood-in-alzheimer-s-disease-and-mild-cognitive-impairment
#9
Yonatan A Cooper, Daniel Nachun, Deepika Dokuru, Zhongan Yang, Anna M Karydas, Ginette Serrero, Binbin Yue, Adam L Boxer, Bruce L Miller, Giovanni Coppola
Objective: Changes in progranulin ( GRN ) expression have been hypothesized to alter risk for Alzheimer's disease (AD). We investigated the relationship between GRN expression in peripheral blood and clinical diagnosis of AD and mild cognitive impairment (MCI). Methods: Peripheral blood progranulin gene expression was measured, using microarrays from Alzheimer's ( n = 186), MCI ( n = 118), and control ( n = 204) subjects from the University of California San Francisco Memory and Aging Center (UCSF-MAC) and two independent published series (AddNeuroMed and ADNI)...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29756027/translatome-regulation-in-neuronal-injury-and-axon-regrowth
#10
Meir Rozenbaum, Marek Rajman, Ida Rishal, Indrek Koppel, Sandip Koley, Katalin F Medzihradszky, Juan A Oses-Prieto, Riki Kawaguchi, Paul S Amieux, Alma L Burlingame, Giovanni Coppola, Mike Fainzilber
Transcriptional events leading to outgrowth of neuronal axons have been intensively studied, but the role of translational regulation in this process is not well understood. Here, we use translatome analyses by ribosome pull-down and protein synthesis characterization by metabolic isotopic labeling to study nerve injury and axon outgrowth proteomes in rodent dorsal root ganglia (DRGs) and sensory neurons. We identify over 1600 gene products that are primarily translationally regulated in DRG neurons after nerve injury, many of which contain a 5'UTR cytosine-enriched regulator of translation (CERT) motif, implicating the translation initiation factor Eif4e in the injury response...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29755576/cold-pressed-minke-whale-oil-reduces-circulating-ldl-vldl-cholesterol-lipid-oxidation-and-atherogenesis-in-apolipoprotein-e-deficient-mice-fed-a-western-type-diet-for-13-weeks
#11
Mari Johannessen Walquist, Svein Kristian Stormo, Bjarne Østerud, Edel O Elvevoll, Karl-Erik Eilertsen
Background: Long-chain n3-polyunsaturated fatty acids (LC n3-PUFA) are well known for their anti-inflammatory activity and their impact on cardiovascular disease. Cold-pressed whale oil (CWO) has half the amount of LC n3-PUFA compared to cod liver oil (CLO). Still, there has been observed more pronounced beneficial effects on cardiovascular disease markers from intake of CWO compared to intake of CLO in human intervention studies. Extracts from CWO deprived of fatty acids have also been shown to display antioxidative and anti-inflammatory effects in vitro...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/29754453/the-dpp-4-inhibitor-anagliptin-ameliorates-hypercholesterolemia-in-hypercholesterolemic-mice-via-inhibition-of-intestinal-cholesterol-transport
#12
Moritaka Goto, Shinji Furuta, Satoko Yamashita, Hiroyuki Hashimoto, Wataru Yano, Noriyuki Inoue, Noriaki Kato, Kohei Kaku
AIMS/INTRODUCTION: Recent data showed that DPP-4 inhibitors exert a lipid-lowering effect in diabetic patients. However, the mechanism of action is not yet clearly understood. We investigated the effect of anagliptin on cholesterol metabolism and transport in the small intestine using non-diabetic hyperlipidemic animals, to clarify the mechanisms underlying the cholesterol-lowering action. MATERIALS AND METHODS: Male ApoE-deficient mice were orally administered anagliptin in the normal chow...
May 13, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29752410/identification-and-structural-characterization-of-a-histidinol-phosphate-phosphatase-from-mycobacterium-tuberculosis
#13
Bhavya Jha, Deepak Kumar, Arun Sharma, Abhisek Dwivedy, Ramandeep Singh, Bichitra Kumar Biswal
The absence of a histidine biosynthesis pathway in humans, coupled with histidine essentiality for survival of the important human pathogen Mycobacterium tuberculosis ( Mtb ), underscores the importance of the bacterial enzymes of this pathway as major anti-tuberculosis drug targets. However, the identity of the mycobacterial enzyme that functions as the histidinol phosphate phosphatase (HolPase) of this pathway remains to be established. Here, we demonstrate that the enzyme encoded by the Rv3137 gene, belonging to the inositol monophosphatase (IMPase) family, functions as the Mtb HolPase and specifically dephosphorylates histidinol phosphate...
May 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29749483/integrated-bioinformatics-analysis-reveals-that-the-expression-of-cathepsin-s-is-associated-with-lymph-node-metastasis-and-poor-prognosis-in-papillary-thyroid-cancer
#14
Juan Tan, Xiaoxiao Qian, Bin Song, Xiumin An, Tingting Cai, Zhihua Zuo, Dafa Ding, Yibing Lu, Hong Li
The prognosis of the majority of patients with papillary thyroid cancer (PTC) is excellent, although there are patients who experience disease recurrence and progression. The aim of the present study was to identify potential prognostic risk markers in PTC. Differentially expressed genes (DEGs), identified from four Genome Expression Omnibus cohorts were subjected to functional enrichment analyses with Gene Ontology terms and the Kyoto Encyclopedia of Genes and Genome pathways. Hub genes, filtered from cytoHubba, were validated using the The Cancer Genome Atlas (TCGA) cohort, and their associations with clinicopathological features and prognosis were analyzed...
May 8, 2018: Oncology Reports
https://www.readbyqxmd.com/read/29748743/erythropoietin-and-nrf2-key-factors-in-the-neuroprotection-provided-by-apo-lactoferrin
#15
E T Zakharova, A V Sokolov, N N Pavlichenko, V A Kostevich, I N Abdurasulova, A V Chechushkov, I V Voynova, A Yu Elizarova, N N Kolmakov, M G Bass, I V Semak, A I Budevich, P M Kozhin, N K Zenkov, V M Klimenko, O V Kirik, D E Korzhevskii, E B Menshchikova, V B Vasilyev
Among the properties of lactoferrin (LF) are bactericidal, antianemic, immunomodulatory, antitumour, antiphlogistic effects. Previously we demonstrated its capacity to stabilize in vivo HIF-1-alpha and HIF-2-alpha, which are redox-sensitive multiaimed transcription factors. Various tissues of animals receiving recombinant human LF (rhLF) responded by expressing the HIF-1-alpha target genes, hence such proteins as erythropoietin (EPO), ceruloplasmin, etc. were synthesized in noticeable amounts. Among organs in which EPO synthesis occurred were brain, heart, spleen, liver, kidneys and lungs...
May 10, 2018: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29747660/association-of-the-apoa1-rs964184-snp-and-serum-lipid-traits-in-the-chinese-maonan-and-han-populations
#16
Ling Qiu, Rui-Xing Yin, Eksavang Khounphinith, Fen-Han Zhang, De-Zhai Yang, Shang-Ling Pan
BACKGROUND: Maonan nationality belongs to a mountain ethnic minority in China. Little is known about the association of apolipoprotein A1 gene (APOA1) rs964184 single nucleotide polymorphism (SNP) and serum lipid levels in this population. The aim of this study was to detect the association of the APOA1 rs964184 SNP and several environmental factors with serum lipid profiles in the Chinese Maonan and Han populations. METHODS: Genotypes of the APOA1 rs964184 SNP in 867 individuals of Maonan nationality and 820 participants of Han nationality were determined by polymerase chain reaction and restriction fragment length polymorphism, combined with gel electrophoresis, and confirmed by direct sequencing...
May 10, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29746905/chronic-lead-exposure-induces-cochlear-oxidative-stress-and-potentiates-noise-induced-hearing-loss
#17
Samson Jamesdaniel, Rita Rosati, Judy Westrick, Douglas M Ruden
Acquired hearing loss is caused by complex interactions of multiple environmental risk factors, such as elevated levels of lead and noise, which are prevalent in urban communities. This study delineates the mechanism underlying lead-induced auditory dysfunction and its potential interaction with noise exposure. Young-adult C57BL/6 mice were exposed to: 1) control conditions; 2) 2 mM lead acetate in drinking water for 28 days; 3) 90 dB broadband noise 2 h/day for two weeks; and 4) both lead and noise...
May 7, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29745836/haplotype-analysis-of-apoe-intragenic-snps
#18
Vladimir N Babenko, Dmitry A Afonnikov, Elena V Ignatieva, Anton V Klimov, Fedor E Gusev, Evgeny I Rogaev
BACKGROUND: APOE ε4 allele is most common genetic risk factor for Alzheimer's disease (AD) and cognitive decline. However, it remains poorly understood why only some carriers of APOE ε4 develop AD and how ethnic variabilities in APOE locus contribute to AD risk. Here, to address the role of APOE haplotypes, we reassessed the diversity of APOE locus in major ethnic groups and in Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset on patients with AD, and subjects with mild cognitive impairment (MCI), and control non-demented individuals...
April 19, 2018: BMC Neuroscience
https://www.readbyqxmd.com/read/29742249/oxldl-plasma-levels-in-patients-with-alzheimer-s-disease
#19
Marina Felipe Grossi, Maria das Graças Carvalho, Josianne Nicácio Silveira, Gisele Santos Gonçalves, Karina Braga Gomes, Maria Aparecida Bicalho, Ieda de Fátima Oliveira Silva
OBJECTIVE: The objective of this study was to characterize the conventional lipid profile, oxLDL levels and ApoE polymorphism in patients with Alzheimer's disease (AD) and in elderly individuals without cognitive impairment. METHODS: Eighty elderly individuals were selected and the levels of oxLDL were determined using the ELISA kit, and ApoE gene polymorphism was investigated using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Significantly reduced levels of oxLDL were observed in patients with AD compared to the control group...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29740562/effects-of-exercise-training-on-stroke-risk-factors-homocysteine-concentration-and-cognitive-function-according-the-apoe-genotype-in-stroke-patients
#20
Jun-Hee Lee, Sang-Min Hong, Yun-A Shin
The apolipoprotein E ( APOE ) gene has been suggested to be associated with stroke and dementia. However, the effects of exercise training on dementia according to the APOE genotype are not consistent to those reported by previous studies. Therefore, we examined the effects of exercise training on stroke risk factors including blood pressure, lipid profiles, homocysteine (Hcy) concentrations, and cognitive function according to the APOE genotype in stroke patients. We examined the stroke risk factors, Hcy, and cognitive function in 28 ischemic stroke patients before and after 6 months of exercise training...
April 2018: Journal of Exercise Rehabilitation
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