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https://www.readbyqxmd.com/read/29181857/whole-exome-sequencing-of-the-bdr-cohort-evidence-to-support-the-role-of-the-pilra-gene-in-alzheimer-s-disease
#1
Tulsi Patel, Keeley J Brookes, James Turton, Sultan Chaudhury, Tamar Guetta-Baranes, Rita Guerreiro, Jose Bras, Dena Hernandez, Andrew Singleton, Paul T Francis, John Hardy, Kevin Morgan
AIM: Late-onset Alzheimer's disease (LOAD) accounts for 95% of all Alzheimer's cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson's disease highlight the potential role of genetic pleiotropy across diseases. Recent GWAS have uncovered 20 new loci for AD risk, however these exhibit small effect sizes. Using NGS, here we perform association analyses using exome-wide and candidate-gene driven approaches. METHODS: Whole-exome sequencing was performed on 132 AD cases and 53 control samples...
November 27, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29151946/gene-expression-profiling-reveals-novel-candidate-markers-of-ovarian-carcinoma-intraperitoneal-metastasis
#2
Katerina Elsnerova, Alena Bartakova, Josef Tihlarik, Jiri Bouda, Lukas Rob, Petr Skapa, Martin Hruda, Ivan Gut, Beatrice Mohelnikova-Duchonova, Pavel Soucek, Radka Vaclavikova
Epithelial ovarian cancer (EOC) has the highest mortality among gynecological carcinomas. The lack of specific markers for prognostic determination of EOC progression hinders the search for novel effective therapies. The aim of the present study was (i) to explore differences in expressions of ATP-binding cassette (ABC) and solute carrier (SLC) transporter genes, genes associated with drug metabolism and cell cycle regulation between control ovarian tissues (n = 14), primary EOCs (n = 44) and intraperitoneal metastases (n = 29); (ii) to investigate associations of gene expression levels with prognosis of patients with intraperitoneal metastases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29111006/a-complex-association-between-abca7-genotypes-and-blood-lipid-levels-in-southern-chinese-han-patients-of-sporadic-alzheimer-s-disease
#3
Hui Li, Jinxia Zhou, Zongwei Yue, Li Feng, Zhaohui Luo, Si Chen, Xiaosu Yang, Bo Xiao
Alzheimer's disease (AD) is the most common neurodegenerative disease characterized by progressive cognitive decline. It can be divided into familial AD (FAD) and sporadic AD (SAD) based on the family history. Recently dysregulation of cholesterol homeostasis has been implicated in the development of late-onset AD. ATP-binding cassette transporter A7 (ABCA7) gene, regulating the transport of cholesterol, has been recently identified as a susceptible gene of AD by several large genome-wide association studies...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29073110/m344-promotes-nonamyloidogenic-amyloid-precursor-protein-processing-while-normalizing-alzheimer-s-disease-genes-and-improving-memory
#4
Claude-Henry Volmar, Hasib Salah-Uddin, Karolina J Janczura, Paul Halley, Guerline Lambert, Andrew Wodrich, Sivan Manoah, Nidhi H Patel, Gregory C Sartor, Neil Mehta, Nancy T H Miles, Sachi Desse, David Dorcius, Michael D Cameron, Shaun P Brothers, Claes Wahlestedt
Alzheimer's disease (AD) comprises multifactorial ailments for which current therapeutic strategies remain insufficient to broadly address the underlying pathophysiology. Epigenetic gene regulation relies upon multifactorial processes that regulate multiple gene and protein pathways, including those involved in AD. We therefore took an epigenetic approach where a single drug would simultaneously affect the expression of a number of defined AD-related targets. We show that the small-molecule histone deacetylase inhibitor M344 reduces beta-amyloid (Aβ), reduces tau Ser396 phosphorylation, and decreases both β-secretase (BACE) and APOEε4 gene expression...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28984604/alzheimer-s-disease-related-polymorphisms-in-shunt-responsive-idiopathic-normal-pressure-hydrocephalus
#5
Joel Huovinen, Seppo Helisalmi, Jussi Paananen, Tiina Laiterä, Maria Kojoukhova, Anna Sutela, Ritva Vanninen, Marjo Laitinen, Tuomas Rauramaa, Anne M Koivisto, Anne M Remes, Hilkka Soininen, Mitja Kurki, Annakaisa Haapasalo, Juha E Jääskeläinen, Mikko Hiltunen, Ville Leinonen
BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is a late onset, surgically treated progressive brain disease caused by impaired cerebrospinal fluid dynamics and subsequent ventriculomegaly. Comorbid Alzheimer's disease (AD) seems to be frequent in iNPH. OBJECTIVE: We aim to evaluate the role of AD-related polymorphisms in iNPH. METHODS: Overall 188 shunt-operated iNPH patients and 688 controls without diagnosed neurodegenerative disease were included into analysis...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28789839/contribution-to-alzheimer-s-disease-risk-of-rare-variants-in-trem2-sorl1-and-abca7-in-1779-cases-and-1273-controls
#6
Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Kilan Le Guennec, Gaël Nicolas, Ganesh Chauhan, David Wallon, Stéphane Rousseau, Anne Claire Richard, Anne Boland, Guillaume Bourque, Hans Markus Munter, Robert Olaso, Vincent Meyer, Adeline Rollin-Sillaire, Florence Pasquier, Luc Letenneur, Richard Redon, Jean-François Dartigues, Christophe Tzourio, Thierry Frebourg, Mark Lathrop, Jean-François Deleuze, Didier Hannequin, Emmanuelle Genin, Philippe Amouyel, Stéphanie Debette, Jean-Charles Lambert, Dominique Campion
We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found exome-wide significant association between EOAD risk and rare variants in SORL1, TREM2, and ABCA7. No exome-wide significant signal was obtained in the LOAD sample, and significance of the order of 10(-6) was observed in the whole AD group for TREM2...
November 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28689405/quantitative-analysis-of-human-red-blood-cell-proteome
#7
Agata H Bryk, Jacek R Wiśniewski
Red blood cells (RBCs) are the most abundant cell type in the human body. RBCs and, in particular, their plasma membrane composition have been extensively studied for many years. During the past decade proteomics studies have extended our knowledge on RBC composition; however, these studies did not provide quantitative insights. Here we report a large-scale proteomics investigation of RBCs and their "white ghost" membrane fraction. Samples were processed using the multienzyme digestion filter-aided sample preparation (MED-FASP) and analyzed using Q-Exactive mass spectrometer...
July 24, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28655137/alzheimer-s-disease-genetics-and-abca7-splicing
#8
Jared B Vasquez, James F Simpson, Ryan Harpole, Steven Estus
Both common and rare polymorphisms within ABCA7 have been associated with Alzheimer's disease (AD). In particular, the rare AD associated polymorphism rs200538373 was associated with altered ABCA7 exon 41 splicing and an AD risk odds ratio of ∼1.9. To probe the role of this polymorphism in ABCA7 splicing, we used minigene studies and qPCR of human brain RNA. We report aberrant ABCA7 exon 41 splicing in the brain of a carrier of the rs200538373 minor C allele. Moreover, minigene studies show that rs200538373 acts as a robust functional variant in vitro...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28650998/functional-annotation-of-alzheimer-s-disease-associated-loci-revealed-by-gwass
#9
Zengpeng Han, Han Huang, Yue Gao, Qingyang Huang
Genome-wide association studies (GWASs) discovered a number of SNPs and genes associated with Alzheimer's disease (AD). However, how these SNPs and genes influence the liability to AD is not fully understood. We deployed computational approaches to explore the function and action mechanisms of AD -related SNPs and genes identified by GWASs, including the effects of 195 GWAS lead SNPs and 338 proxy SNPs on miRNAs binding and protein phosphorylation, their RegulomeDB and 3DSNP scores, and gene ontology, pathway enrichment and protein-protein interaction network of 126 AD-associated genes...
2017: PloS One
https://www.readbyqxmd.com/read/28577227/-search-for-risk-genes-in-alzheimer-s-disease
#10
REVIEW
I Karaca, H Wagner, A Ramirez
Alzheimer's disease (AD) is the most common form of neurodegenerative dementia. The susceptibility to AD is determined by a complex interaction between genetic, epigenetic, and environmental factors. Herein, the risk that can be attributed to genetic factors is high (up to 80%). While most AD patients are sporadic, in rare families Mendelian mode of inheritance can be observed. In these rare familial cases, full penetrant mutations have been identified in APP, PSEN1, and PSEN2. Mutations in these three genes are however rarely found in sporadic AD...
July 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28556232/decreased-plasma-%C3%AE-amyloid-in-the-alzheimer-s-disease-app-a673t-variant-carriers
#11
Henna Martiskainen, Sanna-Kaisa Herukka, Alena Stančáková, Jussi Paananen, Hilkka Soininen, Johanna Kuusisto, Markku Laakso, Mikko Hiltunen
We investigated the association of Alzheimer's disease (AD)-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men. Carriers of protective APP A673T variant had, on average, 28% lower levels of Aβ40 and Aβ42 in plasma as compared to the controls and the carriers of ABCA7 rs200538373-C. This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout life may be protective against AD...
July 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28549481/late-onset-alzheimer-s-disease-genetics-implicates-microglial-pathways-in-disease-risk
#12
REVIEW
Anastasia G Efthymiou, Alison M Goate
Alzheimer's disease (AD) is a highly heritable complex disease with no current effective prevention or treatment. The majority of drugs developed for AD focus on the amyloid cascade hypothesis, which implicates Aß plaques as a causal factor in the disease. However, it is possible that other underexplored disease-associated pathways may be more fruitful targets for drug development. Findings from gene network analyses implicate immune networks as being enriched in AD; many of the genes in these networks fall within genomic regions that contain common and rare variants that are associated with increased risk of developing AD...
May 26, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28480329/african-american-exome-sequencing-identifies-potential-risk-variants-at-alzheimer-disease-loci
#13
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Jeremy D Burgess, Thuy Nguyen, Yan W Asmann, Daniel J Serie, Steven G Younkin, Mariet Allen, Otto Pedraza, Ranjan Duara, Maria T Greig Custo, Neill R Graff-Radford, Nilüfer Ertekin-Taner
OBJECTIVE: In African Americans, we sought to systematically identify coding Alzheimer disease (AD) risk variants at the previously reported AD genome-wide association study (GWAS) loci genes. METHODS: We identified coding variants within genes at the 20 published AD GWAS loci by whole-exome sequencing of 238 African American participants, validated these in 300 additional participants, and tested their association with AD risk in the combined cohort of 538 and with memory endophenotypes in 319 participants...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28477215/validating-gwas-variants-from-microglial-genes-implicated-in-alzheimer-s-disease
#14
Lígia Ramos Dos Santos, Lúcia Helena Sagrillo Pimassoni, Geralda Gillian Silva Sena, Daniela Camporez, Luciano Belcavello, Maíra Trancozo, Renato Lírio Morelato, Flavia Imbroisi Valle Errera, Maria Rita Passos Bueno, Flavia de Paula
Late-onset Alzheimer's disease (LOAD) is a multifactorial neurodegenerative disorder that corresponds to most Alzheimer's disease (AD) cases. Inflammation is frequently related to AD, whereas microglial cells are the major phagocytes in the brain and mediate the removal of Aβ peptides. Microglial cell dsyregulation might contribute to the formation of amyloid plaques, a hallmark of AD. Genome-wide association studies have reported genetic loci associated with the inflammatory pathway involved in AD. Among them, rs3865444 CD33, rs3764650 ABCA7, rs6656401 CR1, and rs610932 MS4A6A variants in microglial genes are associated with LOAD...
June 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#15
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28428742/a-set-based-mixed-effect-model-for-gene-environment-interaction-and-its-application-to-neuroimaging-phenotypes
#16
Changqing Wang, Jianping Sun, Bryan Guillaume, Tian Ge, Derrek P Hibar, Celia M T Greenwood, Anqi Qiu
Imaging genetics is an emerging field for the investigation of neuro-mechanisms linked to genetic variation. Although imaging genetics has recently shown great promise in understanding biological mechanisms for brain development and psychiatric disorders, studying the link between genetic variants and neuroimaging phenotypes remains statistically challenging due to the high-dimensionality of both genetic and neuroimaging data. This becomes even more challenging when studying gene-environment interaction (G×E) on neuroimaging phenotypes...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28408706/embryo-culture-in-presence-of-oviductal-fluid-induces-dna-methylation-changes-in-bovine-blastocysts
#17
Antonio Daniel Barrera, Elina Vanesa García, Meriem Hamdi, Maria-Jesús Sánchez Calabuig, Angela Patricia Lopez-Cardona, Noelia Fonseca Balvís, Dimitrios Rizos, Alfonso Gutierrez-Adan
During the transit through the oviduct, the early embryo initiates an extensive DNA methylation reprogramming of its genome. Given that these epigenetic modifications are susceptible to environmental factors, components present in the oviductal milieu could affect the DNA methylation marks of the developing embryo. The aim of this study was to examine if culture of bovine embryos with oviductal fluid (OF) can induce DNA methylation changes at specific genomic regions in the resulting blastocysts. In vitro produced zygotes were cultured in medium with 3 mg/mL bovine serum albumin (BSA) or 1...
April 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28400126/targeted-sequencing-of-abca7-identifies-splicing-stop-gain-and-intronic-risk-variants-for-alzheimer-disease
#18
B W Kunkle, R M Carney, M A Kohli, A C Naj, K L Hamilton-Nelson, P L Whitehead, L Wang, R Lang, M L Cuccaro, J M Vance, G S Byrd, G W Beecham, J R Gilbert, E R Martin, J L Haines, M A Pericak-Vance
Several variants in the gene ABCA7 have been identified as potential causal variants for late-onset Alzheimer's disease (LOAD). In order to replicate these findings, and search for novel causal variants, we performed targeted sequencing of this gene in cohorts of non-Hispanic White (NHW) and African-American (AA) LOAD cases and controls. We sequenced the gene ABCA7 in 291 NHW LOAD cases and 103 controls. Variants were prioritized for rare, damaging variants and previously reported variants associated with LOAD, and were follow-up genotyped in 4076 NHW and 1157 AA cases and controls...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28373057/lysophosphatidylcholine-export-by-human-abca7
#19
Maiko Tomioka, Yoshinobu Toda, Noralyn B Mañucat, Hiroyasu Akatsu, Manabu Fukumoto, Nozomu Kono, Hiroyuki Arai, Noriyuki Kioka, Kazumitsu Ueda
The ATP-binding cassette transporter A7 (ABCA7), which is highly expressed in the brain, is associated with the pathogenesis of Alzheimer's disease (AD). However, the physiological function of ABCA7 and its transport substrates remain unclear. Immunohistochemical analyses of human brain sections from AD and non-AD subjects revealed that ABCA7 is expressed in neuron and microglia cells in the cerebral cortex. The transport substrates and acceptors were identified in BHK/ABCA7 cells and compared with those of ABCA1...
July 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28341646/cardiorespiratory-fitness-alters-the-influence-of-a-polygenic-risk-score-on-biomarkers-of-ad
#20
Stephanie A Schultz, Elizabeth A Boots, Burcu F Darst, Henrik Zetterberg, Kaj Blennow, Dorothy F Edwards, Rebecca L Koscik, Cynthia M Carlsson, Catherine L Gallagher, Barbara B Bendlin, Sanjay Asthana, Mark A Sager, Kirk J Hogan, Bruce P Hermann, Dane B Cook, Sterling C Johnson, Corinne D Engelman, Ozioma C Okonkwo
OBJECTIVE: To examine whether a polygenic risk score (PRS) derived from APOE4, CLU, and ABCA7 is associated with CSF biomarkers of Alzheimer disease (AD) pathology and whether higher cardiorespiratory fitness (CRF) modifies the association between the PRS and CSF biomarkers. METHODS: Ninety-five individuals from the Wisconsin Registry for Alzheimer's Prevention were included in these cross-sectional analyses. They were genotyped for APOE4, CLU, and ABCA7, from which a PRS was calculated for each participant...
April 25, 2017: Neurology
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