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Search results 1 to 100 out of 140 for C9orf72

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Category: Publication
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Type Details Score
Publication
27193190 | J:240578
First Author: Sullivan PM
Year: 2016
Journal: Acta Neuropathol Commun
Title: The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.
Volume: 4
Issue: 1
Pages: 51
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Publication
21944778 | -
First Author: DeJesus-Hernandez M
Year: 2011
Journal: Neuron
Title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Volume: 72
Issue: 2
Pages: 245-56
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Publication
27103069 | J:233688
First Author: Sellier C
Year: 2016
Journal: EMBO J
Title: Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Volume: 35
Issue: 12
Pages: 1276-97
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Publication
32303654 | -
First Author: Tang D
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a.
Volume: 117
Issue: 18
Pages: 9876-9883
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Publication
34297726 | -
First Author: Nörpel J
Year: 2021
Journal: PLoS Biol
Title: Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
Volume: 19
Issue: 7
Pages: e3001344
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Publication
26408000 | J:248461
 
First Author: Atkinson RA
Year: 2015
Journal: Acta Neuropathol Commun
Title: C9ORF72 expression and cellular localization over mouse development.
Volume: 3
Pages: 59
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Publication
28195531 | -
   
First Author: Jung J
Year: 2017
Journal: Elife
Title: Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator.
Volume: 6
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Publication
27723745 | J:238205
First Author: Sivadasan R
Year: 2016
Journal: Nat Neurosci
Title: C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.
Volume: 19
Issue: 12
Pages: 1610-1618
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Publication
27412785 | J:240357
First Author: Burberry A
Year: 2016
Journal: Sci Transl Med
Title: Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Volume: 8
Issue: 347
Pages: 347ra93
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Publication
26989253 | J:232498
First Author: O'Rourke JG
Year: 2016
Journal: Science
Title: C9orf72 is required for proper macrophage and microglial function in mice.
Volume: 351
Issue: 6279
Pages: 1324-9
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Publication
26044557 | J:298381
First Author: Koppers M
Year: 2015
Journal: Ann Neurol
Title: C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Volume: 78
Issue: 3
Pages: 426-38
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Publication
22065758 | -
First Author: Wu X
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate.
Volume: 108
Issue: 46
Pages: 18672-7
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Publication
37250330 | J:338627
First Author: Pang W
Year: 2023
Journal: iScience
Title: C9ORF72 suppresses JAK-STAT mediated inflammation.
Volume: 26
Issue: 5
Pages: 106579
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Publication
37590144 | J:340443
First Author: Hendricks E
Year: 2023
Journal: Cell Rep
Title: The C9ORF72 repeat expansion alters neurodevelopment.
Volume: 42
Issue: 8
Pages: 112983
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Publication
27875531 | J:237194
First Author: Ugolino J
Year: 2016
Journal: PLoS Genet
Title: Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling.
Volume: 12
Issue: 11
Pages: e1006443
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Publication
31651360 | J:292854
First Author: Xiao S
Year: 2019
Journal: Acta Neuropathol Commun
Title: Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels.
Volume: 7
Issue: 1
Pages: 161
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Publication
32814898 | J:298061
First Author: McCauley ME
Year: 2020
Journal: Nature
Title: C9orf72 in myeloid cells suppresses STING-induced inflammation.
Volume: 585
Issue: 7823
Pages: 96-101
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Publication
27476503 | J:250440
First Author: Ferguson R
Year: 2016
Journal: J Anat
Title: Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.
Volume: 229
Issue: 6
Pages: 871-891
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Publication
27112499 | J:239579
First Author: Liu Y
Year: 2016
Journal: Neuron
Title: C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
Volume: 90
Issue: 3
Pages: 521-34
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Publication
33022228 | J:300539
First Author: Mordes DA
Year: 2020
Journal: Neuron
Title: Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice.
Volume: 108
Issue: 4
Pages: 775-783.e4
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Publication
32175624 | J:297239
First Author: Khosravi B
Year: 2020
Journal: EMBO J
Title: Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD.
Volume: 39
Issue: 8
Pages: e102811
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Publication
33545050 | J:303732
First Author: Wang T
Year: 2021
Journal: Cell Metab
Title: C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Volume: 33
Issue: 3
Pages: 531-546.e9
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35793625 | J:342095
First Author: Amalyan S
Year: 2022
Journal: Cell Rep
Title: Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion.
Volume: 40
Issue: 1
Pages: 111043
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32483373 | J:291329
First Author: Burberry A
Year: 2020
Journal: Nature
Title: C9orf72 suppresses systemic and neural inflammation induced by gut bacteria.
Volume: 582
Issue: 7810
Pages: 89-94
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Publication
28606110 | J:243875
First Author: Esanov R
Year: 2017
Journal: Mol Neurodegener
Title: A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.
Volume: 12
Issue: 1
Pages: 46
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Publication
27112497 | J:232242
First Author: Jiang J
Year: 2016
Journal: Neuron
Title: Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Volume: 90
Issue: 3
Pages: 535-50
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24185425 | J:207696
First Author: Suzuki N
Year: 2013
Journal: Nat Neurosci
Title: The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
Volume: 16
Issue: 12
Pages: 1725-7
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Publication
34133945 | J:311292
First Author: Lall D
Year: 2021
Journal: Neuron
Title: C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
Volume: 109
Issue: 14
Pages: 2275-2291.e8
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Publication
26998601 | J:234713
First Author: Zhang YJ
Year: 2016
Journal: Nat Neurosci
Title: C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.
Volume: 19
Issue: 5
Pages: 668-77
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Publication
28720882 | J:250122
First Author: Langseth AJ
Year: 2017
Journal: Sci Rep
Title: Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.
Volume: 7
Issue: 1
Pages: 5685
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Publication
33482083 | J:302558
First Author: Maor-Nof M
Year: 2021
Journal: Cell
Title: p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Volume: 184
Issue: 3
Pages: 689-708.e20
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35876881 | J:347294
First Author: Bauer CS
Year: 2022
Journal: Acta Neuropathol
Title: An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Volume: 144
Issue: 3
Pages: 437-464
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Publication
30022074 | J:266401
First Author: Chitiprolu M
Year: 2018
Journal: Nat Commun
Title: A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy.
Volume: 9
Issue: 1
Pages: 2794
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Publication
24170860 | J:202886
First Author: Lagier-Tourenne C
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Volume: 110
Issue: 47
Pages: E4530-9
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Publication
25977373 | J:223998
First Author: Chew J
Year: 2015
Journal: Science
Title: Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Volume: 348
Issue: 6239
Pages: 1151-4
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Publication
32887666 | J:311556
First Author: Ho WY
Year: 2020
Journal: Acta Neuropathol Commun
Title: Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis.
Volume: 8
Issue: 1
Pages: 155
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32690681 | J:299401
First Author: Zu T
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice.
Volume: 117
Issue: 31
Pages: 18591-18599
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24549040 | J:206933
First Author: Farg MA
Year: 2014
Journal: Hum Mol Genet
Title: C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
Volume: 23
Issue: 13
Pages: 3579-95
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Publication
30366907 | J:272605
First Author: Liu Y
Year: 2018
Journal: Genes Dev
Title: A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress.
Volume: 32
Issue: 21-22
Pages: 1380-1397
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Publication
31847700 | J:302680
First Author: Shao Q
Year: 2020
Journal: Autophagy
Title: C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.
Volume: 16
Issue: 9
Pages: 1635-1650
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Publication
27617292 | J:236977
First Author: Yang M
Year: 2016
Journal: Sci Adv
Title: A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.
Volume: 2
Issue: 9
Pages: e1601167
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Publication
33022226 | J:300537
First Author: Nguyen L
Year: 2020
Journal: Neuron
Title: Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs.
Volume: 108
Issue: 4
Pages: 784-796.e3
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31625563 | J:290045
First Author: Liang C
Year: 2019
Journal: Hum Mol Genet
Title: Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models.
Volume: 28
Issue: 23
Pages: 3940-3953
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31612854 | J:296421
   
First Author: Laflamme C
Year: 2019
Journal: Elife
Title: Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72.
Volume: 8
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Publication
31582731 | J:295740
First Author: Suzuki H
Year: 2019
Journal: Cell Death Dis
Title: C9-ALS/FTD-linked proline-arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation.
Volume: 10
Issue: 10
Pages: 746
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Publication
30669939 | J:302617
First Author: Ho WY
Year: 2019
Journal: Autophagy
Title: The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy.
Volume: 15
Issue: 5
Pages: 827-842
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Publication
31086314 | J:281623
First Author: Choi SY
Year: 2019
Journal: Nat Neurosci
Title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.
Volume: 22
Issue: 6
Pages: 851-862
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30696333 | J:294772
First Author: Lan Y
Year: 2019
Journal: Autophagy
Title: SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis.
Volume: 15
Issue: 5
Pages: 871-885
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23979585 | J:201579
First Author: Panda SK
Year: 2013
Journal: Genetics
Title: Highly efficient targeted mutagenesis in mice using TALENs.
Volume: 195
Issue: 3
Pages: 703-13
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29950492 | J:272433
First Author: Zhang Y
Year: 2018
Journal: Genes Dev
Title: The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.
Volume: 32
Issue: 13-14
Pages: 929-943
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Publication
- | J:101977
     
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
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16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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- | J:82809
     
First Author: European Mouse Mutant Archive
Year: 2003
Journal: Unpublished
Title: Information obtained from the European Mouse Mutant Archive (EMMA)
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Publication
- | J:342607
       
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
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- | J:157064
     
First Author: University of California, Davis
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the University of California, Davis
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27626380 | J:236599
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
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- | J:84900
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
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24194600 | J:228563
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
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- | J:204739
     
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
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- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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First Author: Mouse Genome Informatics
Year: 2010
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Journal: Database Release
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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26637796 | J:228731
First Author: O'Rourke JG
Year: 2015
Journal: Neuron
Title: C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.
Volume: 88
Issue: 5
Pages: 892-901
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37664610 | J:340590
First Author: Cicardi ME
Year: 2023
Journal: iScience
Title: C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress.
Volume: 26
Issue: 9
Pages: 107505
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32313266 | J:293173
First Author: Lutz C
Year: 2020
Journal: Nat Neurosci
Title: Realizing the gains and losses in C9ORF72 ALS/FTD.
Volume: 23
Issue: 5
Pages: 596-597
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31831332 | J:325530
First Author: Nguyen L
Year: 2020
Journal: Neuron
Title: Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model.
Volume: 105
Issue: 4
Pages: 645-662.e11
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32284607 | J:293178
First Author: Zhu Q
Year: 2020
Journal: Nat Neurosci
Title: Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Volume: 23
Issue: 5
Pages: 615-624
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35675776 | J:326146
First Author: Czuppa M
Year: 2022
Journal: Cell Rep
Title: Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD.
Volume: 39
Issue: 10
Pages: 110913
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Publication
26727886 | -
 
First Author: Atkinson RA
Year: 2016
Journal: Acta Neuropathol Commun
Title: Erratum: C9ORF72 expression and cellular localization over mouse development.
Volume: 4
Pages: 2
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Publication
31310593 | J:286152
   
First Author: Shi Y
Year: 2019
Journal: JCI Insight
Title: Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons.
Volume: 5
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Publication
33378537 | J:304457
First Author: Pattamatta A
Year: 2021
Journal: Hum Mol Genet
Title: Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
Volume: 29
Issue: 24
Pages: 3900-3918
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Publication
26637797 | J:228730
First Author: Peters OM
Year: 2015
Journal: Neuron
Title: Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.
Volume: 88
Issue: 5
Pages: 902-909
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Publication
31676125 | J:284819
 
First Author: Ryan S
Year: 2019
Journal: Neurobiol Aging
Title: CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in mice.
Volume: 84
Pages: 235.e1-235.e8
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Publication
26979938 | J:269047
 
First Author: Atanasio A
Year: 2016
Journal: Sci Rep
Title: C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.
Volume: 6
Pages: 23204
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Publication
28409281 | J:324567
First Author: Schludi MH
Year: 2017
Journal: Acta Neuropathol
Title: Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.
Volume: 134
Issue: 2
Pages: 241-254
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Publication
28481984 | J:243430
First Author: Farg MA
Year: 2017
Journal: Hum Mol Genet
Title: The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.
Volume: 26
Issue: 15
Pages: 2882-2896
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Publication
31858749 | J:324627
First Author: Zhou Q
Year: 2020
Journal: EMBO Mol Med
Title: Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model.
Volume: 12
Issue: 2
Pages: e10919
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Publication
31266945 | J:282709
First Author: Hao Z
Year: 2019
Journal: Nat Commun
Title: Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR.
Volume: 10
Issue: 1
Pages: 2906
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