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Book ; Online ; Thesis: Genomweite Analyse zur Identifizierung differentiell exprimierter MicroRNAs und MRNAs bei Morbus Alzheimer

Pichler, Sabrina [Verfasser] / Riemenschneider, Matthias [Akademischer Betreuer]

2016

Author's details	Sabrina Pichler ; Betreuer: Matthias Riemenschneider
Keywords	Medizin, Gesundheit ; Medicine, Health
Subject code	sg610
Language	German
Publisher	Saarländische Universitäts- und Landesbibliothek
Publishing place	Saarbrücken
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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Article ; Online: Amyloid-β Protein Precursor Cleavage Products in Postmortem Ventricular Cerebrospinal Fluid of Alzheimer's Disease Patients.

Hartl, Daniela / Gu, Wei / Mayhaus, Manuel / Pichler, Sabrina / Schöpe, Jakob / Wagenpfeil, Stefan / Riemenschneider, Matthias

Journal of Alzheimer's disease : JAD

2015 Volume 47, Issue 2, Page(s) 365–372

Abstract: Accumulation and aggregation of amyloid-β (Aβ) are considered etiologic processes in Alzheimer's disease (AD). However, the roles of other AβPP cleavage products in disease pathology remain elusive. Here, we measured levels of the major secreted AβPP ... ...

Abstract	Accumulation and aggregation of amyloid-β (Aβ) are considered etiologic processes in Alzheimer's disease (AD). However, the roles of other AβPP cleavage products in disease pathology remain elusive. Here, we measured levels of the major secreted AβPP processing products sAβPPα, sAβPPβ, and Aβ species in postmortem collected ventricular CSF of 196 AD patients and 74 controls. In AD we identified Aβ₄₂ to decrease continuously with progressing Braak stages, whereas Aβ₄₀ was upregulated in early stages of the disease (Braak stage 4) and down-regulated with progressing pathology. Interestingly, both sAβPPα and sAβPPβ were upregulated in AD as compared to controls (sAβPPα, p = 0.02; sAβPPβ, p = 0.01). Moreover, we observed a strong positive correlation of both alternative AβPP processing products, sAβPPα and sAβPPβ (r²= 0.781; p < 0.0001). Together, our results argue for generally enhanced AβPP processing in AD patients and emphasize the necessity of analyzing the roles of all AβPP processing products in AD pathology.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/cerebrospinal fluid ; Alzheimer Disease/pathology ; Amyloid beta-Peptides/cerebrospinal fluid ; Amyloid beta-Protein Precursor/cerebrospinal fluid ; Disease Progression ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Male ; Peptide Fragments/cerebrospinal fluid
Chemical Substances	APP protein, human ; Amyloid beta-Peptides ; Amyloid beta-Protein Precursor ; Peptide Fragments ; amyloid beta-protein (1-40) ; amyloid beta-protein (1-42)
Language	English
Publishing date	2015
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-150191
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Article ; Online: The miRNome of Alzheimer's disease: consistent downregulation of the miR-132/212 cluster.

Pichler, Sabrina / Gu, Wei / Hartl, Daniela / Gasparoni, Gilles / Leidinger, Petra / Keller, Andreas / Meese, Eckart / Mayhaus, Manuel / Hampel, Harald / Riemenschneider, Matthias

Neurobiology of aging

2017 Volume 50, Page(s) 167.e1–167.e10

Abstract: MicroRNAs (miRNAs) are small noncoding RNA molecules, with essential functions in RNA silencing and post-transcriptional regulation of gene expression. miRNAs appear to regulate the development and function of the nervous system. Alterations of miRNA ... ...

Abstract	MicroRNAs (miRNAs) are small noncoding RNA molecules, with essential functions in RNA silencing and post-transcriptional regulation of gene expression. miRNAs appear to regulate the development and function of the nervous system. Alterations of miRNA expression have been associated with Alzheimer's disease (AD). To characterize the AD miRNA signature, we examined genome-wide miRNA and mRNA expression patterns in the temporal cortex of AD and control samples. We validated our miRNA results by semiquantitative real-time polymerase chain reaction (PCR) in independent prefrontal cortex. Furthermore, we separated gray and white matter brain sections to identify the cellular origin of the altered miRNA expression. We observed genome-wide downregulation of hsa-miR-132-3p and hsa-miR-212-3p in AD with a stronger decrease in gray matter AD samples. We further identified 10 differently expressed transcripts achieving genome-wide levels of significance. Significantly deregulated miRNAs and mRNAs were correlated and examined for potential binding sites (in silico). This miRNome-wide study in AD provides supportive evidence and corroborates an important contribution of miR-132/212 and corresponding target mRNAs to the pathogenesis of AD.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Binding Sites ; Down-Regulation ; Female ; Gene Expression ; Genome-Wide Association Study ; Gray Matter/metabolism ; Humans ; Male ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Multigene Family/genetics
Chemical Substances	MIRN132 microRNA, human ; MIRN212 microRNA, human ; MicroRNAs
Language	English
Publishing date	2017
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.2016.09.019
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Article: Rare

May, Patrick / Pichler, Sabrina / Hartl, Daniela / Bobbili, Dheeraj R / Mayhaus, Manuel / Spaniol, Christian / Kurz, Alexander / Balling, Rudi / Schneider, Jochen G / Riemenschneider, Matthias

Neurology. Genetics

2018 Volume 4, Issue 2, Page(s) e224

Abstract: Objective: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing.: Methods: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole- ...

Abstract	Objective: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. Methods: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by Sanger sequencing using standard protocols. Results: We identified 2 rare Conclusions: We conclude that both SNVs might contribute to the development of AD in the examined family members. Together with previous findings, our data confirm
Language	English
Publishing date	2018-03-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000224
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Article ; Online: A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Molecular psychiatry

2018 Volume 25, Issue 3, Page(s) 629–639

Abstract: Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important ... ...

Abstract	Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes with rare AD causing variants is ADAM10. Using whole-genome sequencing we now identified a single rare nonsynonymous variant (SNV) rs142946965 [p.R215I] in ADAM17 co-segregating with an autosomal-dominant pattern of late-onset AD in one family. Subsequent genotyping and analysis of available whole-exome sequencing data of additional case/control samples from Germany, UK, and USA identified five variant carriers among AD patients only. The mutation inhibits pro-protein cleavage and the formation of the active enzyme, thus leading to loss-of-function of ADAM17 alpha-secretase. Further, we identified a strong negative correlation between ADAM17 and APP gene expression in human brain and present in vitro evidence that ADAM17 negatively controls the expression of APP. As a consequence, p.R215I mutation of ADAM17 leads to elevated Aß formation in vitro. Together our data supports a causative association of the identified ADAM17 variant in the pathogenesis of AD.
MeSH term(s)	ADAM17 Protein/genetics ; ADAM17 Protein/metabolism ; Aged ; Alzheimer Disease/genetics ; Amyloid Precursor Protein Secretases/metabolism ; Amyloid beta-Protein Precursor/genetics ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Germany ; Humans ; Loss of Function Mutation/genetics ; Male ; Middle Aged ; Mutation ; Whole Exome Sequencing
Chemical Substances	Amyloid beta-Protein Precursor ; Amyloid Precursor Protein Secretases (EC 3.4.-) ; ADAM17 Protein (EC 3.4.24.86) ; ADAM17 protein, human (EC 3.4.24.86)
Language	English
Publishing date	2018-07-09
Publishing country	England
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	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/s41380-018-0091-8
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Article ; Online: Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.

Martinelli-Boneschi, Filippo / Giacalone, Giacomo / Magnani, Giuseppe / Biella, Gloria / Coppi, Elisabetta / Santangelo, Roberto / Brambilla, Paola / Esposito, Federica / Lupoli, Sara / Clerici, Francesca / Benussi, Luisa / Ghidoni, Roberta / Galimberti, Daniela / Squitti, Rosanna / Confaloni, Annamaria / Bruno, Giuseppe / Pichler, Sabrina / Mayhaus, Manuel / Riemenschneider, Matthias /

Mariani, Claudio / Comi, Giancarlo / Scarpini, Elio / Binetti, Giuliano / Forloni, Gianluigi / Franceschi, Massimo / Albani, Diego

Neurobiology of aging

2013 Volume 34, Issue 6, Page(s) 1711.e7–13

Abstract: We conducted a genome-wide association study in a cohort of 176 Italian Alzheimer's disease (AD) patients with extreme phenotype of response to cholinesterase inhibitors. Patients were classified into responders in case of positive, stable, or ≤1 ... ...

Abstract	We conducted a genome-wide association study in a cohort of 176 Italian Alzheimer's disease (AD) patients with extreme phenotype of response to cholinesterase inhibitors. Patients were classified into responders in case of positive, stable, or ≤1 worsening of mini-mental state examination score and into nonresponders if >3 points worsening during a median follow-up of 0.85 years of treatment. Forty-eight single-nucleotide polymorphisms were selected for replication in 198 additional AD-treated patients. By using the dichotomous response trait and a quantitative trait approach (change of mini-mental state examination), a nominal replication and evidence of association when combining data were achieved for 2 single-nucleotide polymorphisms associated with response to treatment: rs6720975A (pcombined = 2.9 × 10(-5), beta regression coefficient: 1.61) and rs17798800A (pcombined = 6.8 × 10(-6), odds ratio = 0.38, 95% confidence interval = 0.25-0.58). Rs6720975 maps in the intronic region of PRKCE, a protein kinase involved in several cellular functions, whereas rs17798800 is intergenic and, according to expression quantitative trait locus (eQTL) analysis, it acts as a cis-regulator of NBEA, an A kinase-anchoring protein playing a substantial role in the maturation of the nervous system. Despite its limitations, this project paves the way for the application of personalized medicine in AD patients and for collaborative efforts in this field.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/diagnosis ; Alzheimer Disease/drug therapy ; Alzheimer Disease/genetics ; Cholinesterase Inhibitors/therapeutic use ; Cohort Studies ; Female ; Follow-Up Studies ; Genome-Wide Association Study/methods ; Humans ; Male ; Pharmacogenetics ; Polymorphism, Single Nucleotide/genetics
Chemical Substances	Cholinesterase Inhibitors
Language	English
Publishing date	2013-06
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; 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.2012.12.008
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Article ; Online: Frontotemporal dementia and its subtypes: a genome-wide association study.

Ferrari, Raffaele / Hernandez, Dena G / Nalls, Michael A / Rohrer, Jonathan D / Ramasamy, Adaikalavan / Kwok, John B J / Dobson-Stone, Carol / Brooks, William S / Schofield, Peter R / Halliday, Glenda M / Hodges, John R / Piguet, Olivier / Bartley, Lauren / Thompson, Elizabeth / Haan, Eric / Hernández, Isabel / Ruiz, Agustín / Boada, Mercè / Borroni, Barbara /

Padovani, Alessandro / Cruchaga, Carlos / Cairns, Nigel J / Benussi, Luisa / Binetti, Giuliano / Ghidoni, Roberta / Forloni, Gianluigi / Galimberti, Daniela / Fenoglio, Chiara / Serpente, Maria / Scarpini, Elio / Clarimón, Jordi / Lleó, Alberto / Blesa, Rafael / Waldö, Maria Landqvist / Nilsson, Karin / Nilsson, Christer / Mackenzie, Ian R A / Hsiung, Ging-Yuek R / Mann, David M A / Grafman, Jordan / Morris, Christopher M / Attems, Johannes / Griffiths, Timothy D / McKeith, Ian G / Thomas, Alan J / Pietrini, P / Huey, Edward D / Wassermann, Eric M / Baborie, Atik / Jaros, Evelyn / Tierney, Michael C / Pastor, Pau / Razquin, Cristina / Ortega-Cubero, Sara / Alonso, Elena / Perneczky, Robert / Diehl-Schmid, Janine / Alexopoulos, Panagiotis / Kurz, Alexander / Rainero, Innocenzo / Rubino, Elisa / Pinessi, Lorenzo / Rogaeva, Ekaterina / St George-Hyslop, Peter / Rossi, Giacomina / Tagliavini, Fabrizio / Giaccone, Giorgio / Rowe, James B / Schlachetzki, Johannes C M / Uphill, James / Collinge, John / Mead, Simon / Danek, Adrian / Van Deerlin, Vivianna M / Grossman, Murray / Trojanowski, John Q / van der Zee, Julie / Deschamps, William / Van Langenhove, Tim / Cruts, Marc / Van Broeckhoven, Christine / Cappa, Stefano F / Le Ber, Isabelle / Hannequin, Didier / Golfier, Véronique / Vercelletto, Martine / Brice, Alexis / Nacmias, Benedetta / Sorbi, Sandro / Bagnoli, Silvia / Piaceri, Irene / Nielsen, Jørgen E / Hjermind, Lena E / Riemenschneider, Matthias / Mayhaus, Manuel / Ibach, Bernd / Gasparoni, Gilles / Pichler, Sabrina / Gu, Wei / Rossor, Martin N / Fox, Nick C / Warren, Jason D / Spillantini, Maria Grazia / Morris, Huw R / Rizzu, Patrizia / Heutink, Peter / Snowden, Julie S / Rollinson, Sara / Richardson, Anna / Gerhard, Alexander / Bruni, Amalia C / Maletta, Raffaele / Frangipane, Francesca / Cupidi, Chiara / Bernardi, Livia / Anfossi, Maria / Gallo, Maura / Conidi, Maria Elena / Smirne, Nicoletta / Rademakers, Rosa / Baker, Matt / Dickson, Dennis W / Graff-Radford, Neill R / Petersen, Ronald C / Knopman, David / Josephs, Keith A / Boeve, Bradley F / Parisi, Joseph E / Seeley, William W / Miller, Bruce L / Karydas, Anna M / Rosen, Howard / van Swieten, John C / Dopper, Elise G P / Seelaar, Harro / Pijnenburg, Yolande A L / Scheltens, Philip / Logroscino, Giancarlo / Capozzo, Rosa / Novelli, Valeria / Puca, Annibale A / Franceschi, Massimo / Postiglione, Alfredo / Milan, Graziella / Sorrentino, Paolo / Kristiansen, Mark / Chiang, Huei-Hsin / Graff, Caroline / Pasquier, Florence / Rollin, Adeline / Deramecourt, Vincent / Lebert, Florence / Kapogiannis, Dimitrios / Ferrucci, Luigi / Pickering-Brown, Stuart / Singleton, Andrew B / Hardy, John / Momeni, Parastoo

The Lancet. Neurology

2014 Volume 13, Issue 7, Page(s) 686–699

Abstract: Background: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been ... ...

Abstract	Background: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods: We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10(-8)) single-nucleotide polymorphisms. Findings: We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10(-8)). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, HLA locus (immune system), for rs9268877 (p=1·05 × 10(-8); odds ratio=1·204 [95% CI 1·11-1·30]), rs9268856 (p=5·51 × 10(-9); 0·809 [0·76-0·86]) and rs1980493 (p value=1·57 × 10(-8), 0·775 [0·69-0·86]) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10(-7); 0·814 [0·71-0·92]). Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation in cis. Interpretation: Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD. Funding: The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/MRC Centre on Parkinson's disease, Alzheimer's Research UK, and Texas Tech University Health Sciences Center.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Female ; Frontotemporal Dementia/classification ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Genome-Wide Association Study/methods ; Genotype ; Humans ; Male ; Middle Aged
Language	English
Publishing date	2014-06-10
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2081241-3
ISSN	1474-4465 ; 1474-4422
ISSN (online)	1474-4465
ISSN	1474-4422
DOI	10.1016/S1474-4422(14)70065-1
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Article ; Online: Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Escott-Price, Valentina / Bellenguez, Céline / Wang, Li-San / Choi, Seung-Hoan / Harold, Denise / Jones, Lesley / Holmans, Peter / Gerrish, Amy / Vedernikov, Alexey / Richards, Alexander / DeStefano, Anita L / Lambert, Jean-Charles / Ibrahim-Verbaas, Carla A / Naj, Adam C / Sims, Rebecca / Jun, Gyungah / Bis, Joshua C / Beecham, Gary W / Grenier-Boley, Benjamin /

Russo, Giancarlo / Thornton-Wells, Tricia A / Denning, Nicola / Smith, Albert V / Chouraki, Vincent / Thomas, Charlene / Ikram, M Arfan / Zelenika, Diana / Vardarajan, Badri N / Kamatani, Yoichiro / Lin, Chiao-Feng / Schmidt, Helena / Kunkle, Brian / Dunstan, Melanie L / Vronskaya, Maria / Johnson, Andrew D / Ruiz, Agustin / Bihoreau, Marie-Thérèse / Reitz, Christiane / Pasquier, Florence / Hollingworth, Paul / Hanon, Olivier / Fitzpatrick, Annette L / Buxbaum, Joseph D / Campion, Dominique / Crane, Paul K / Baldwin, Clinton / Becker, Tim / Gudnason, Vilmundur / Cruchaga, Carlos / Craig, David / Amin, Najaf / Berr, Claudine / Lopez, Oscar L / De Jager, Philip L / Deramecourt, Vincent / Johnston, Janet A / Evans, Denis / Lovestone, Simon / Letenneur, Luc / Hernández, Isabel / Rubinsztein, David C / Eiriksdottir, Gudny / Sleegers, Kristel / Goate, Alison M / Fiévet, Nathalie / Huentelman, Matthew J / Gill, Michael / Brown, Kristelle / Kamboh, M Ilyas / Keller, Lina / Barberger-Gateau, Pascale / McGuinness, Bernadette / Larson, Eric B / Myers, Amanda J / Dufouil, Carole / Todd, Stephen / Wallon, David / Love, Seth / Rogaeva, Ekaterina / Gallacher, John / George-Hyslop, Peter St / Clarimon, Jordi / Lleo, Alberto / Bayer, Anthony / Tsuang, Debby W / Yu, Lei / Tsolaki, Magda / Bossù, Paola / Spalletta, Gianfranco / Proitsi, Petra / Collinge, John / Sorbi, Sandro / Garcia, Florentino Sanchez / Fox, Nick C / Hardy, John / Naranjo, Maria Candida Deniz / Bosco, Paolo / Clarke, Robert / Brayne, Carol / Galimberti, Daniela / Scarpini, Elio / Bonuccelli, Ubaldo / Mancuso, Michelangelo / Siciliano, Gabriele / Moebus, Susanne / Mecocci, Patrizia / Zompo, Maria Del / Maier, Wolfgang / Hampel, Harald / Pilotto, Alberto / Frank-García, Ana / Panza, Francesco / Solfrizzi, Vincenzo / Caffarra, Paolo / Nacmias, Benedetta / Perry, William / Mayhaus, Manuel / Lannfelt, Lars / Hakonarson, Hakon / Pichler, Sabrina / Carrasquillo, Minerva M / Ingelsson, Martin / Beekly, Duane / Alvarez, Victoria / Zou, Fanggeng / Valladares, Otto / Younkin, Steven G / Coto, Eliecer / Hamilton-Nelson, Kara L / Gu, Wei / Razquin, Cristina / Pastor, Pau / Mateo, Ignacio / Owen, Michael J / Faber, Kelley M / Jonsson, Palmi V / Combarros, Onofre / O'Donovan, Michael C / Cantwell, Laura B / Soininen, Hilkka / Blacker, Deborah / Mead, Simon / Mosley, Thomas H / Bennett, David A / Harris, Tamara B / Fratiglioni, Laura / Holmes, Clive / de Bruijn, Renee F A G / Passmore, Peter / Montine, Thomas J / Bettens, Karolien / Rotter, Jerome I / Brice, Alexis / Morgan, Kevin / Foroud, Tatiana M / Kukull, Walter A / Hannequin, Didier / Powell, John F / Nalls, Michael A / Ritchie, Karen / Lunetta, Kathryn L / Kauwe, John S K / Boerwinkle, Eric / Riemenschneider, Matthias / Boada, Mercè / Hiltunen, Mikko / Martin, Eden R / Schmidt, Reinhold / Rujescu, Dan / Dartigues, Jean-François / Mayeux, Richard / Tzourio, Christophe / Hofman, Albert / Nöthen, Markus M / Graff, Caroline / Psaty, Bruce M / Haines, Jonathan L / Lathrop, Mark / Pericak-Vance, Margaret A / Launer, Lenore J / Van Broeckhoven, Christine / Farrer, Lindsay A / van Duijn, Cornelia M / Ramirez, Alfredo / Seshadri, Sudha / Schellenberg, Gerard D / Amouyel, Philippe / Williams, Julie

PloS one

2014 Volume 9, Issue 6, Page(s) e94661

Abstract: Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using ... ...

Abstract	Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6) and 14 (IGHV1-67 p = 7.9×10-8) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
MeSH term(s)	Alzheimer Disease/genetics ; Carrier Proteins/genetics ; Case-Control Studies ; Genome-Wide Association Study ; Heat-Shock Proteins/genetics ; Humans ; Polymorphism, Single Nucleotide ; Receptors, Antigen, B-Cell/genetics
Chemical Substances	Carrier Proteins ; Heat-Shock Proteins ; Receptors, Antigen, B-Cell ; TP53INP1 protein, human
Language	English
Publishing date	2014-06-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0094661
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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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