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Search results 301 to 400 out of 449 for C9orf72

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Type Details Score
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1791823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_10
Specimen Label: euxassay_010754_10
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1791823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_11
Specimen Label: euxassay_010754_11
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1791823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_14
Specimen Label: euxassay_010754_14
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1791823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_15
Specimen Label: euxassay_010754_15
Detected: true
Specimen Num: 13
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1881228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861910
Specimen Label: UC Davis_1861910
Detected: true
Specimen Num: 1
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1881228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861911
Specimen Label: UC Davis_1861911
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1881228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861912
Specimen Label: UC Davis_1861912
Detected: true
Specimen Num: 3
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1881228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1862008
Specimen Label: UC Davis_1862008
Detected: true
Specimen Num: 90
Publication
First Author: Ounissi M
Year: 2024
Journal: Sci Rep
Title: PhagoStat a scalable and interpretable end to end framework for efficient quantification of cell phagocytosis in neurodegenerative disease studies.
Volume: 14
Issue: 1
Pages: 6482
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication      
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
Publication      
First Author: European Mouse Mutant Archive
Year: 2003
Journal: Unpublished
Title: Information obtained from the European Mouse Mutant Archive (EMMA)
Publication        
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
Publication      
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
Publication
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
Publication
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
Publication      
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
Publication      
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
Publication
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
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
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
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
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
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
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).
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
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
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
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
Gene
Type: gene
Organism: frog, African clawed
Allele
Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 5, Cathy Lutz
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele
Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Kevin Eggan
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
Publication
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
Publication
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
Publication
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
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
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
Publication
First Author: Cabrera GT
Year: 2024
Journal: Gene Ther
Title: Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo.
Volume: 31
Issue: 3-4
Pages: 105-118
Publication  
First Author: Atkinson RA
Year: 2016
Journal: Acta Neuropathol Commun
Title: Erratum: C9ORF72 expression and cellular localization over mouse development.
Volume: 4
Pages: 2
Publication
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
Publication
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
Publication
First Author: Piao X
Year: 2022
Journal: Sci Rep
Title: Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo.
Volume: 12
Issue: 1
Pages: 5672
UniProt Feature
Begin: 1
Description: Guanine nucleotide exchange factor C9orf72 homolog
Type: chain
End: 481
Publication
First Author: Jambeau M
Year: 2022
Journal: Proc Natl Acad Sci U S A
Title: Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9orf72 disease.
Volume: 119
Issue: 49
Pages: e2123487119
Publication    
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
Publication  
First Author: Martier R
Year: 2019
Journal: Mol Ther Nucleic Acids
Title: Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy.
Volume: 16
Pages: 26-37
Publication
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
HT Experiment
Series Id: GSE77720
Experiment Type: RNA-Seq
Study Type: Baseline
Source: ArrayExpress
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
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
Publication  
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
Publication  
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
Publication
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
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Bennett CL
Year: 2023
Journal: Acta Neuropathol Commun
Title: Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Volume: 11
Issue: 1
Pages: 164
Publication
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
Publication
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
Publication
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
Publication
First Author: LaClair KD
Year: 2020
Journal: Acta Neuropathol
Title: Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.
Volume: 140
Issue: 2
Pages: 121-142
Protein
Organism: Mus musculus/domesticus
Length: 420  
Fragment?: false
Publication
First Author: Rosbash M
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Metformin treatment of the C9orf72 ALS/FTD mouse: Almost too good for words.
Volume: 117
Issue: 33
Pages: 19627-19628
Allele
Name: transgene insertion 500, Laura Ranum
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Interaction Experiment
Description: C9orf72 poly-PR helps p53 escape from the ubiquitin-proteasome system and promotes its stability.
Genotype
Symbol: Tg(C9orf72)500Lpwr/?
Background: FVB/NJ-Tg(C9orf72)500Lpwr
Zygosity: ot
Has Mutant Allele: true
Interaction Experiment
Description: Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Allele
Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Publication
First Author: Amick J
Year: 2016
Journal: Mol Biol Cell
Title: C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.
Volume: 27
Issue: 20
Pages: 3040-3051
Publication    
First Author: Celona B
Year: 2017
Journal: Elife
Title: Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106.
Volume: 6
Publication  
First Author: Zhang YJ
Year: 2019
Journal: Science
Title: Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.
Volume: 363
Issue: 6428
Transgene
Type: transgene
Organism: mouse, laboratory
DO Term
Publication  
First Author: Rodriguez S
Year: 2021
Journal: Sci Transl Med
Title: Genome-encoded cytoplasmic double-stranded RNAs, found in C9ORF72 ALS-FTD brain, propagate neuronal loss.
Volume: 13
Issue: 601
Strain
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
Publication
First Author: Yang F
Year: 2023
Journal: J Neurochem
Title: C9orf72 poly-PR helps p53 escape from the ubiquitin-proteasome system and promotes its stability.
Volume: 166
Issue: 2
Pages: 389-402
Publication
First Author: Herranz-Martin S
Year: 2017
Journal: Dis Model Mech
Title: Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Volume: 10
Issue: 7
Pages: 859-868
Publication  
First Author: Fomin V
Year: 2018
Journal: Mol Cell Biol
Title: The C9ORF72 Gene, Implicated in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, Encodes a Protein That Functions in Control of Endothelin and Glutamate Signaling.
Volume: 38
Issue: 22
Publication      
First Author: Riemslagh FW
Year: 2021
Journal: Dis Model Mech
Title: Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice.
Publication
First Author: Liu Y
Year: 2021
Journal: Nat Commun
Title: Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.
Volume: 12
Issue: 1
Pages: 847
Publication
First Author: Kandasamy P
Year: 2022
Journal: Nucleic Acids Res
Title: Impact of guanidine-containing backbone linkages on stereopure antisense oligonucleotides in the CNS.
Volume: 50
Issue: 10
Pages: 5401-5423
Publication  
First Author: Liu Y
Year: 2022
Journal: Mol Ther Nucleic Acids
Title: Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD.
Volume: 28
Pages: 558-570
Publication  
First Author: Fu X
Year: 2024
Journal: Exp Neurol
Title: DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD.
Volume: 376
Pages: 114768
Publication
First Author: Castelli LM
Year: 2023
Journal: Sci Transl Med
Title: A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.
Volume: 15
Issue: 685
Pages: eabo3823
Allele
Name: transgene insertion 450B, Clotilde Lagier-Tourenne
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Leonard Guarente
Allele Type: Targeted
Attribute String: Conditional ready, Inserted expressed sequence