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  1. Article ; Online: Methylation Profiling RIN3 and MEF2C Identifies Epigenetic Marks Associated with Sporadic Early Onset Alzheimer's Disease.

    Boden, Kirsty A / Barber, Imelda S / Clement, Naomi / Patel, Tulsi / Guetta-Baranes, Tamar / Brookes, Keeley J / Chappell, Sally / Craigon, Jim / Chapman, Natalie H / Morgan, Kevin / Seymour, Graham B / Bottley, Andrew

    Journal of Alzheimer's disease reports

    2017  Volume 1, Issue 1, Page(s) 97–108

    Abstract: A number of genetic loci associate with early onset Alzheimer's disease (EOAD); however, the drivers of this disease remains enigmatic. Genome wide association ... ...

    Abstract A number of genetic loci associate with early onset Alzheimer's disease (EOAD); however, the drivers of this disease remains enigmatic. Genome wide association and
    Language English
    Publishing date 2017-09-13
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2542-4823
    ISSN (online) 2542-4823
    DOI 10.3233/ADR-170015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease.

    Chaudhury, Sultan / Patel, Tulsi / Barber, Imelda S / Guetta-Baranes, Tamar / Brookes, Keeley J / Chappell, Sally / Turton, James / Guerreiro, Rita / Bras, Jose / Hernandez, Dena / Singleton, Andrew / Hardy, John / Mann, David / Morgan, Kevin

    Neurobiology of aging

    2017  Volume 62, Page(s) 244.e1–244.e8

    Abstract: Sporadic early-onset Alzheimer's disease (sEOAD) exhibits the symptoms of late-onset Alzheimer's disease but lacks the familial aspect of the early-onset familial form. The genetics of Alzheimer's disease (AD) identifies APOEε4 to be the greatest risk ... ...

    Abstract Sporadic early-onset Alzheimer's disease (sEOAD) exhibits the symptoms of late-onset Alzheimer's disease but lacks the familial aspect of the early-onset familial form. The genetics of Alzheimer's disease (AD) identifies APOEε4 to be the greatest risk factor; however, it is a complex disease involving both environmental risk factors and multiple genetic loci. Polygenic risk scores (PRSs) accumulate the total risk of a phenotype in an individual based on variants present in their genome. We determined whether sEOAD cases had a higher PRS compared to controls. A cohort of sEOAD cases was genotyped on the NeuroX array, and PRSs were generated using PRSice. The target data set consisted of 408 sEOAD cases and 436 controls. The base data set was collated by the International Genomics of Alzheimer's Project consortium, with association data from 17,008 late-onset Alzheimer's disease cases and 37,154 controls, which can be used for identifying sEOAD cases due to having shared phenotype. PRSs were generated using all common single nucleotide polymorphisms between the base and target data set, PRS were also generated using only single nucleotide polymorphisms within a 500 kb region surrounding the APOE gene. Sex and number of APOE ε2 or ε4 alleles were used as variables for logistic regression and combined with PRS. The results show that PRS is higher on average in sEOAD cases than controls, although there is still overlap among the whole cohort. Predictive ability of identifying cases and controls using PRSice was calculated with 72.9% accuracy, greater than the APOE locus alone (65.2%). Predictive ability was further improved with logistic regression, identifying cases and controls with 75.5% accuracy.
    MeSH term(s) Aged ; Alleles ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Cohort Studies ; Female ; Gene-Environment Interaction ; Genome, Human/genetics ; Genome-Wide Association Study ; Genotyping Techniques/methods ; Humans ; Logistic Models ; Male ; Middle Aged ; Multifactorial Inheritance ; Phenotype ; Polymorphism, Single Nucleotide ; Risk
    Chemical Substances ApoE protein, human ; Apolipoproteins E
    Language English
    Publishing date 2017-10-10
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2017.09.035
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  3. Article ; Online: Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

    Barber, Imelda S / Braae, Anne / Clement, Naomi / Patel, Tulsi / Guetta-Baranes, Tamar / Brookes, Keeley / Medway, Christopher / Chappell, Sally / Guerreiro, Rita / Bras, Jose / Hernandez, Dena / Singleton, Andrew / Hardy, John / Mann, David M / Morgan, Kevin

    Neurobiology of aging

    2016  Volume 49, Page(s) 215.e1–215.e8

    Abstract: We have screened sporadic early-onset Alzheimer's disease (sEOAD, n = 408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found 2 sEOAD individuals ... ...

    Abstract We have screened sporadic early-onset Alzheimer's disease (sEOAD, n = 408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3 sEOAD individuals harboring a predicted pathogenic variant in MAPT (p.A469T), which has previously been associated with AD. It is currently unknown if these variants affect susceptibility to sEOAD, further studies would be needed to establish this. This work highlights the need to screen sEOAD individuals for variants that are more classically attributed to other forms of neurodegeneration.
    MeSH term(s) Alzheimer Disease/genetics ; DNA Mutational Analysis/methods ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Genetic Variation/genetics ; Humans ; Oligonucleotide Array Sequence Analysis/methods ; Parkinson Disease/genetics ; Ubiquitin-Protein Ligases/genetics ; tau Proteins/genetics
    Chemical Substances MAPT protein, human ; tau Proteins ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; parkin protein (EC 2.3.2.27)
    Language English
    Publishing date 2016-09-23
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2016.09.008
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  4. Article ; Online: A plasma protein classifier for predicting amyloid burden for preclinical Alzheimer's disease.

    Ashton, Nicholas J / Nevado-Holgado, Alejo J / Barber, Imelda S / Lynham, Steven / Gupta, Veer / Chatterjee, Pratishtha / Goozee, Kathryn / Hone, Eugene / Pedrini, Steve / Blennow, Kaj / Schöll, Michael / Zetterberg, Henrik / Ellis, Kathryn A / Bush, Ashley I / Rowe, Christopher C / Villemagne, Victor L / Ames, David / Masters, Colin L / Aarsland, Dag /
    Powell, John / Lovestone, Simon / Martins, Ralph / Hye, Abdul

    Science advances

    2019  Volume 5, Issue 2, Page(s) eaau7220

    Abstract: A blood-based assessment of preclinical disease would have huge potential in the enrichment of participants for Alzheimer's disease (AD) therapeutic trials. In this study, cognitively unimpaired individuals from the AIBL and KARVIAH cohorts were defined ... ...

    Abstract A blood-based assessment of preclinical disease would have huge potential in the enrichment of participants for Alzheimer's disease (AD) therapeutic trials. In this study, cognitively unimpaired individuals from the AIBL and KARVIAH cohorts were defined as Aβ negative or Aβ positive by positron emission tomography. Nontargeted proteomic analysis that incorporated peptide fractionation and high-resolution mass spectrometry quantified relative protein abundances in plasma samples from all participants. A protein classifier model was trained to predict Aβ-positive participants using feature selection and machine learning in AIBL and independently assessed in KARVIAH. A 12-feature model for predicting Aβ-positive participants was established and demonstrated high accuracy (testing area under the receiver operator characteristic curve = 0.891, sensitivity = 0.78, and specificity = 0.77). This extensive plasma proteomic study has unbiasedly highlighted putative and novel candidates for AD pathology that should be further validated with automated methodologies.
    MeSH term(s) Aged ; Aged, 80 and over ; Alzheimer Disease/blood ; Alzheimer Disease/diagnosis ; Alzheimer Disease/etiology ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Biomarkers ; Blood Proteins/metabolism ; Cognitive Dysfunction/diagnosis ; Female ; Humans ; Male ; Proteomics/methods ; Severity of Illness Index
    Chemical Substances Amyloid beta-Peptides ; Biomarkers ; Blood Proteins
    Language English
    Publishing date 2019-02-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2810933-8
    ISSN 2375-2548 ; 2375-2548
    ISSN (online) 2375-2548
    ISSN 2375-2548
    DOI 10.1126/sciadv.aau7220
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease.

    Barber, Imelda S / García-Cárdenas, Jennyfer M / Sakdapanichkul, Chidchanok / Deacon, Christopher / Zapata Erazo, Gabriela / Guerreiro, Rita / Bras, Jose / Hernandez, Dena / Singleton, Andrew / Guetta-Baranes, Tamar / Braae, Anne / Clement, Naomi / Patel, Tulsi / Brookes, Keeley / Medway, Christopher / Chappell, Sally / Mann, David M / Morgan, Kevin

    Neurobiology of aging

    2015  Volume 39, Page(s) 220.e1–7

    Abstract: Early-onset Alzheimer's disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤65 years of age. A total of 451 sEOAD samples were screened for known causative mutations in exons 16 and 17 of the amyloid precursor ... ...

    Abstract Early-onset Alzheimer's disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤65 years of age. A total of 451 sEOAD samples were screened for known causative mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene. Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. Additionally, we document an intronic 6 base pair (bp) deletion located 83 bp downstream of exon 17 (rs367709245, IVS17 83-88delAAGTAT), which has a nonsignificantly increased minor allele frequency in our sEOAD cohort (0.006) compared to LOAD (0.002) and controls (0.002). To assess the effect of the 6-bp deletion on splicing, COS-7 and BE(2)-C cells were transfected with a minigene vector encompassing exon 17. There was no change in splicing of exon 17 from constructs containing either wild type or deletion inserts. Sequencing of cDNA generated from cerebellum and temporal cortex of a patient harboring the deletion found no evidence of transcripts with exon 17 removed.
    MeSH term(s) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Base Pairing/genetics ; Cohort Studies ; Exons/genetics ; Female ; Gene Deletion ; Gene Frequency ; Genetic Association Studies ; Genetic Testing ; Humans ; Introns/genetics ; Male ; Middle Aged ; Mutation ; Sequence Analysis, DNA
    Chemical Substances Amyloid beta-Protein Precursor
    Language English
    Publishing date 2015-12-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2015.12.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

    Sims, Rebecca / van der Lee, Sven J / Naj, Adam C / Bellenguez, Céline / Badarinarayan, Nandini / Jakobsdottir, Johanna / Kunkle, Brian W / Boland, Anne / Raybould, Rachel / Bis, Joshua C / Martin, Eden R / Grenier-Boley, Benjamin / Heilmann-Heimbach, Stefanie / Chouraki, Vincent / Kuzma, Amanda B / Sleegers, Kristel / Vronskaya, Maria / Ruiz, Agustin / Graham, Robert R /
    Olaso, Robert / Hoffmann, Per / Grove, Megan L / Vardarajan, Badri N / Hiltunen, Mikko / Nöthen, Markus M / White, Charles C / Hamilton-Nelson, Kara L / Epelbaum, Jacques / Maier, Wolfgang / Choi, Seung-Hoan / Beecham, Gary W / Dulary, Cécile / Herms, Stefan / Smith, Albert V / Funk, Cory C / Derbois, Céline / Forstner, Andreas J / Ahmad, Shahzad / Li, Hongdong / Bacq, Delphine / Harold, Denise / Satizabal, Claudia L / Valladares, Otto / Squassina, Alessio / Thomas, Rhodri / Brody, Jennifer A / Qu, Liming / Sánchez-Juan, Pascual / Morgan, Taniesha / Wolters, Frank J / Zhao, Yi / Garcia, Florentino Sanchez / Denning, Nicola / Fornage, Myriam / Malamon, John / Naranjo, Maria Candida Deniz / Majounie, Elisa / Mosley, Thomas H / Dombroski, Beth / Wallon, David / Lupton, Michelle K / Dupuis, Josée / Whitehead, Patrice / Fratiglioni, Laura / Medway, Christopher / Jian, Xueqiu / Mukherjee, Shubhabrata / Keller, Lina / Brown, Kristelle / Lin, Honghuang / Cantwell, Laura B / Panza, Francesco / McGuinness, Bernadette / Moreno-Grau, Sonia / Burgess, Jeremy D / Solfrizzi, Vincenzo / Proitsi, Petra / Adams, Hieab H / Allen, Mariet / Seripa, Davide / Pastor, Pau / Cupples, L Adrienne / Price, Nathan D / Hannequin, Didier / Frank-García, Ana / Levy, Daniel / Chakrabarty, Paramita / Caffarra, Paolo / Giegling, Ina / Beiser, Alexa S / Giedraitis, Vilmantas / Hampel, Harald / Garcia, Melissa E / Wang, Xue / Lannfelt, Lars / Mecocci, Patrizia / Eiriksdottir, Gudny / Crane, Paul K / Pasquier, Florence / Boccardi, Virginia / Henández, Isabel / Barber, Robert C / Scherer, Martin / Tarraga, Lluis / Adams, Perrie M / Leber, Markus / Chen, Yuning / Albert, Marilyn S / Riedel-Heller, Steffi / Emilsson, Valur / Beekly, Duane / Braae, Anne / Schmidt, Reinhold / Blacker, Deborah / Masullo, Carlo / Schmidt, Helena / Doody, Rachelle S / Spalletta, Gianfranco / Longstreth, W T / Fairchild, Thomas J / Bossù, Paola / Lopez, Oscar L / Frosch, Matthew P / Sacchinelli, Eleonora / Ghetti, Bernardino / Yang, Qiong / Huebinger, Ryan M / Jessen, Frank / Li, Shuo / Kamboh, M Ilyas / Morris, John / Sotolongo-Grau, Oscar / Katz, Mindy J / Corcoran, Chris / Dunstan, Melanie / Braddel, Amy / Thomas, Charlene / Meggy, Alun / Marshall, Rachel / Gerrish, Amy / Chapman, Jade / Aguilar, Miquel / Taylor, Sarah / Hill, Matt / Fairén, Mònica Díez / Hodges, Angela / Vellas, Bruno / Soininen, Hilkka / Kloszewska, Iwona / Daniilidou, Makrina / Uphill, James / Patel, Yogen / Hughes, Joseph T / Lord, Jenny / Turton, James / Hartmann, Annette M / Cecchetti, Roberta / Fenoglio, Chiara / Serpente, Maria / Arcaro, Marina / Caltagirone, Carlo / Orfei, Maria Donata / Ciaramella, Antonio / Pichler, Sabrina / Mayhaus, Manuel / Gu, Wei / Lleó, Alberto / Fortea, Juan / Blesa, Rafael / Barber, Imelda S / Brookes, Keeley / Cupidi, Chiara / Maletta, Raffaele Giovanni / Carrell, David / Sorbi, Sandro / Moebus, Susanne / Urbano, Maria / Pilotto, Alberto / Kornhuber, Johannes / Bosco, Paolo / Todd, Stephen / Craig, David / Johnston, Janet / Gill, Michael / Lawlor, Brian / Lynch, Aoibhinn / Fox, Nick C / Hardy, John / Albin, Roger L / Apostolova, Liana G / Arnold, Steven E / Asthana, Sanjay / Atwood, Craig S / Baldwin, Clinton T / Barnes, Lisa L / Barral, Sandra / Beach, Thomas G / Becker, James T / Bigio, Eileen H / Bird, Thomas D / Boeve, Bradley F / Bowen, James D / Boxer, Adam / Burke, James R / Burns, Jeffrey M / Buxbaum, Joseph D / Cairns, Nigel J / Cao, Chuanhai / Carlson, Chris S / Carlsson, Cynthia M / Carney, Regina M / Carrasquillo, Minerva M / Carroll, Steven L / Diaz, Carolina Ceballos / Chui, Helena C / Clark, David G / Cribbs, David H / Crocco, Elizabeth A / DeCarli, Charles / Dick, Malcolm / Duara, Ranjan / Evans, Denis A / Faber, Kelley M / Fallon, Kenneth B / Fardo, David W / Farlow, Martin R / Ferris, Steven / Foroud, Tatiana M / Galasko, Douglas R / Gearing, Marla / Geschwind, Daniel H / Gilbert, John R / Graff-Radford, Neill R / Green, Robert C / Growdon, John H / Hamilton, Ronald L / Harrell, Lindy E / Honig, Lawrence S / Huentelman, Matthew J / Hulette, Christine M / Hyman, Bradley T / Jarvik, Gail P / Abner, Erin / Jin, Lee-Way / Jun, Gyungah / Karydas, Anna / Kaye, Jeffrey A / Kim, Ronald / Kowall, Neil W / Kramer, Joel H / LaFerla, Frank M / Lah, James J / Leverenz, James B / Levey, Allan I / Li, Ge / Lieberman, Andrew P / Lunetta, Kathryn L / Lyketsos, Constantine G / Marson, Daniel C / Martiniuk, Frank / Mash, Deborah C / Masliah, Eliezer / McCormick, Wayne C / McCurry, Susan M / McDavid, Andrew N / McKee, Ann C / Mesulam, Marsel / Miller, Bruce L / Miller, Carol A / Miller, Joshua W / Morris, John C / Murrell, Jill R / Myers, Amanda J / O'Bryant, Sid / Olichney, John M / Pankratz, Vernon S / Parisi, Joseph E / Paulson, Henry L / Perry, William / Peskind, Elaine / Pierce, Aimee / Poon, Wayne W / Potter, Huntington / Quinn, Joseph F / Raj, Ashok / Raskind, Murray / Reisberg, Barry / Reitz, Christiane / Ringman, John M / Roberson, Erik D / Rogaeva, Ekaterina / Rosen, Howard J / Rosenberg, Roger N / Sager, Mark A / Saykin, Andrew J / Schneider, Julie A / Schneider, Lon S / Seeley, William W / Smith, Amanda G / Sonnen, Joshua A / Spina, Salvatore / Stern, Robert A / Swerdlow, Russell H / Tanzi, Rudolph E / Thornton-Wells, Tricia A / Trojanowski, John Q / Troncoso, Juan C / Van Deerlin, Vivianna M / Van Eldik, Linda J / Vinters, Harry V / Vonsattel, Jean Paul / Weintraub, Sandra / Welsh-Bohmer, Kathleen A / Wilhelmsen, Kirk C / Williamson, Jennifer / Wingo, Thomas S / Woltjer, Randall L / Wright, Clinton B / Yu, Chang-En / Yu, Lei / Garzia, Fabienne / Golamaully, Feroze / Septier, Gislain / Engelborghs, Sebastien / Vandenberghe, Rik / De Deyn, Peter P / Fernadez, Carmen Muñoz / Benito, Yoland Aladro / Thonberg, Hakan / Forsell, Charlotte / Lilius, Lena / Kinhult-Stählbom, Anne / Kilander, Lena / Brundin, RoseMarie / Concari, Letizia / Helisalmi, Seppo / Koivisto, Anne Maria / Haapasalo, Annakaisa / Dermecourt, Vincent / Fievet, Nathalie / Hanon, Olivier / Dufouil, Carole / Brice, Alexis / Ritchie, Karen / Dubois, Bruno / Himali, Jayanadra J / Keene, C Dirk / Tschanz, JoAnn / Fitzpatrick, Annette L / Kukull, Walter A / Norton, Maria / Aspelund, Thor / Larson, Eric B / Munger, Ron / Rotter, Jerome I / Lipton, Richard B / Bullido, María J / Hofman, Albert / Montine, Thomas J / Coto, Eliecer / Boerwinkle, Eric / Petersen, Ronald C / Alvarez, Victoria / Rivadeneira, Fernando / Reiman, Eric M / Gallo, Maura / O'Donnell, Christopher J / Reisch, Joan S / Bruni, Amalia Cecilia / Royall, Donald R / Dichgans, Martin / Sano, Mary / Galimberti, Daniela / St George-Hyslop, Peter / Scarpini, Elio / Tsuang, Debby W / Mancuso, Michelangelo / Bonuccelli, Ubaldo / Winslow, Ashley R / Daniele, Antonio / Wu, Chuang-Kuo / Peters, Oliver / Nacmias, Benedetta / Riemenschneider, Matthias / Heun, Reinhard / Brayne, Carol / Rubinsztein, David C / Bras, Jose / Guerreiro, Rita / Al-Chalabi, Ammar / Shaw, Christopher E / Collinge, John / Mann, David / Tsolaki, Magda / Clarimón, Jordi / Sussams, Rebecca / Lovestone, Simon / O'Donovan, Michael C / Owen, Michael J / Behrens, Timothy W / Mead, Simon / Goate, Alison M / Uitterlinden, Andre G / Holmes, Clive / Cruchaga, Carlos / Ingelsson, Martin / Bennett, David A / Powell, John / Golde, Todd E / Graff, Caroline / De Jager, Philip L / Morgan, Kevin / Ertekin-Taner, Nilufer / Combarros, Onofre / Psaty, Bruce M / Passmore, Peter / Younkin, Steven G / Berr, Claudine / Gudnason, Vilmundur / Rujescu, Dan / Dickson, Dennis W / Dartigues, Jean-François / DeStefano, Anita L / Ortega-Cubero, Sara / Hakonarson, Hakon / Campion, Dominique / Boada, Merce / Kauwe, John Keoni / Farrer, Lindsay A / Van Broeckhoven, Christine / Ikram, M Arfan / Jones, Lesley / Haines, Jonathan L / Tzourio, Christophe / Launer, Lenore J / Escott-Price, Valentina / Mayeux, Richard / Deleuze, Jean-François / Amin, Najaf / Holmans, Peter A / Pericak-Vance, Margaret A / Amouyel, Philippe / van Duijn, Cornelia M / Ramirez, Alfredo / Wang, Li-San / Lambert, Jean-Charles / Seshadri, Sudha / Williams, Julie / Schellenberg, Gerard D

    Nature genetics

    2017  Volume 49, Issue 9, Page(s) 1373–1384

    Abstract: We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × ... ...

    Abstract We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Amino Acid Sequence ; Case-Control Studies ; Exome/genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Immunity, Innate/genetics ; Linkage Disequilibrium ; Membrane Glycoproteins/genetics ; Microglia/metabolism ; Odds Ratio ; Phospholipase C gamma/genetics ; Polymorphism, Single Nucleotide ; Protein Interaction Maps/genetics ; Receptors, Immunologic/genetics ; Sequence Homology, Amino Acid
    Chemical Substances ABI3 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human ; Phospholipase C gamma (EC 3.1.4.3)
    Language English
    Publishing date 2017-07-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.3916
    Database MEDical Literature Analysis and Retrieval System OnLINE

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