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Search results 501 to 600 out of 697 for Gaa

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Type Details Score
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech 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: 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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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: 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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: 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 Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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 Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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
Publication  
First Author: Al-Mahdawi S
Year: 2018
Journal: Front Cell Neurosci
Title: Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Volume: 12
Pages: 443
Publication  
First Author: Kalef-Ezra E
Year: 2023
Journal: Front Neurosci
Title: A new FRDA mouse model [Fxn (null):YG8s(GAA) > 800] with more than 800 GAA repeats.
Volume: 17
Pages: 930422
Publication
First Author: Ezzatizadeh V
Year: 2012
Journal: Neurobiol Dis
Title: The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.
Volume: 46
Issue: 1
Pages: 165-71
Publication
First Author: Al-Mahdawi S
Year: 2006
Journal: Genomics
Title: GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Volume: 88
Issue: 5
Pages: 580-90
Publication
First Author: Al-Mahdawi S
Year: 2008
Journal: Hum Mol Genet
Title: The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Volume: 17
Issue: 5
Pages: 735-46
Publication
First Author: von Deimling OH
Year: 1991
Journal: Genet Res
Title: Biochemical and genetic characterization of esterase-27 (ES-27), the major plasma cholinesterase of the house mouse (Mus musculus).
Volume: 57
Issue: 1
Pages: 61-70
Publication
First Author: von Deimling O
Year: 1992
Journal: Biochem Genet
Title: Esterase-29 (ES-29): biochemical characterization and control by two independent gene loci of a testosterone-dependent mouse serum esterase.
Volume: 30
Issue: 7-8
Pages: 421-36
Publication
First Author: von Deimling OH
Year: 1991
Journal: Biochem Genet
Title: Genetic and biochemical characterization of a new chymotrypsin isozyme of the house mouse, CTRA-1.
Volume: 29
Issue: 11-12
Pages: 545-57
Publication
First Author: von Deimling OH
Year: 1988
Journal: Biochem Genet
Title: Esterase-18 (ES-18) of the house mouse (Mus musculus): biochemical characterization and genetics of an allozyme system linked to chromosome 19.
Volume: 26
Issue: 9-10
Pages: 617-29
Publication
First Author: von Deimling OH
Year: 1991
Journal: Electrophoresis
Title: Demonstration of murine pancreas elastase and its interstrain variation by isoelectric focusing.
Volume: 12
Issue: 6
Pages: 446-7
Transgene
Type: transgene
Organism: mouse, laboratory
SO Term
Publication
First Author: Campuzano V
Year: 1996
Journal: Science
Title: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Volume: 271
Issue: 5254
Pages: 1423-7
Publication
First Author: Ronai A
Year: 1993
Journal: Biochem Genet
Title: Esterase-30 (ES-30) of the house mouse: biochemical characterization and genetics of a new carboxylesterase isozyme linked to cluster-2 loci on chromosome 8.
Volume: 31
Issue: 7-8
Pages: 279-94
Publication
First Author: Scherer G
Year: 1989
Journal: Genomics
Title: Gene mapping on mouse chromosome 8 by interspecific crosses: new data on a linkage group conserved on human chromosome 16q.
Volume: 5
Issue: 2
Pages: 275-82
HT Experiment
Series Id: GSE57980
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: Hameister H
Year: 1992
Journal: Genomics
Title: Gene order and genetic distance of 13 loci spanning murine chromosome 15.
Volume: 14
Issue: 2
Pages: 417-22
Publication
First Author: Becker-Follmann J
Year: 1997
Journal: Mamm Genome
Title: High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.
Volume: 8
Issue: 3
Pages: 172-7
Publication  
First Author: von Deimlimg O
Year: 1991
Journal: Mouse Genome
Title: Esterase-29.
Volume: 89
Pages: 549
Allele
Name: glucosidase, alpha, acid; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
HT Experiment
Series Id: GSE30429
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: ArrayExpress
Allele
Name: interleukin-1 receptor-associated kinase 2; targeted mutation 1.1, Philip Cohen
Allele Type: Targeted
Attribute String: Hypomorph
Allele
Name: transgene insertion 1, Joseph Sarsero
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: phosphatase and tensin homolog; targeted mutation 2.1, Gustavo Leone
Allele Type: Targeted
Attribute String: Null/knockout
Publication
First Author: Jasoliya M
Year: 2019
Journal: PLoS One
Title: Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Volume: 14
Issue: 6
Pages: e0217776
Publication
First Author: Tomassini B
Year: 2012
Journal: Hum Mol Genet
Title: Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Volume: 21
Issue: 13
Pages: 2855-61
Allele
Name: transgene insertion CF11, GENSAT Project at Rockefeller University
Allele Type: Transgenic
Attribute String: Reporter
Allele
Name: polymerase (DNA directed), kappa; targeted mutation 1.1, Chugai Pharmaceutical Co Ltd
Allele Type: Targeted
Attribute String: Not Specified
Allele
Name: BCL2-associated athanogene 3; targeted mutation 1.1, Ju Chen
Allele Type: Targeted
Attribute String: Not Specified
Allele
Name: ankyrin 2, brain; endonuclease-mediated mutation 1, Mona El Refaey
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: transgene insertion Y47, Mark A Pook
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: poly(A) binding protein, cytoplasmic 1-like; endonuclease-mediated mutation 1, Lei Wang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: poly(A) binding protein, cytoplasmic 1-like; endonuclease-mediated mutation 3, Lei Wang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: poly(A) binding protein, cytoplasmic 1-like; endonuclease-mediated mutation 2, Lei Wang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Genotype
Symbol: Pten/Pten
Background: involves: 129S6/SvEvTac * Black Swiss * FVB/N
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Pten/Pten<+>
Background: involves: 129S6/SvEvTac * Black Swiss * FVB/N
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Irak2/?
Background: involves: C57BL/6
Zygosity: ot
Has Mutant Allele: true
Publication
First Author: Gong C
Year: 2021
Journal: Mol Cell
Title: Sequential inverse dysregulation of the RNA helicases DDX3X and DDX3Y facilitates MYC-driven lymphomagenesis.
Volume: 81
Issue: 19
Pages: 4059-4075.e11
Publication
First Author: Rodden LN
Year: 2022
Journal: Sci Rep
Title: DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
Volume: 12
Issue: 1
Pages: 5031
Publication  
First Author: Villa C
Year: 2021
Journal: Sci Transl Med
Title: Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
Volume: 13
Issue: 607
Publication
First Author: Sandi C
Year: 2011
Journal: Neurobiol Dis
Title: Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Volume: 42
Issue: 3
Pages: 496-505
Publication
First Author: Chutake YK
Year: 2015
Journal: PLoS One
Title: FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
Volume: 10
Issue: 9
Pages: e0138437
Publication
First Author: Liu Y
Year: 2021
Journal: Hum Mol Genet
Title: SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Volume: 31
Issue: 2
Pages: 176-188
Publication  
First Author: Gérard C
Year: 2023
Journal: Behav Brain Res
Title: A promising mouse model for Friedreich Ataxia progressing like human patients.
Volume: 436
Pages: 114107
Strain
Attribute String: mutant stock, transgenic
Publication  
First Author: Takeiri A
Year: 2014
Journal: DNA Repair (Amst)
Title: In vivo evidence that DNA polymerase kappa is responsible for error-free bypass across DNA cross-links induced by mitomycin C.
Volume: 24
Pages: 113-121
Allele
Name: BCL2-associated athanogene 3; targeted mutation 1, Ju Chen
Allele Type: Targeted
Attribute String: Humanized sequence
Strain
Attribute String: congenic, mutant strain, targeted mutation
Allele
Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
Allele Type: Targeted
Attribute String: Humanized sequence, Inserted expressed sequence
Strain
Attribute String: congenic, endonuclease-mediated mutation, mutant strain
Publication
First Author: Wallace MJ
Year: 2023
Journal: J Biol Chem
Title: Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.
Volume: 299
Issue: 6
Pages: 104818
Allele  
Name: titin; targeted mutation 1, Isabelle Richard
Allele Type: Targeted
Allele
Name: transgene insertion YG22, Mark A Pook
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: calcium/calmodulin-dependent protein kinase II alpha; endonuclease-mediated mutation 1, Roger J Colbran
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: transgene insertion YG8, Mark A Pook
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Genotype
Symbol: Ttn/Ttn<+>
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Ttn/Ttn
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Bag3/Bag3
Background: B6.129(SJL)-Bag3
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Ank2/Ank2
Background: B6.Cg-Ank2
Zygosity: hm
Has Mutant Allele: true
Publication
First Author: Anjomani Virmouni S
Year: 2014
Journal: PLoS One
Title: Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.
Volume: 9
Issue: 9
Pages: e107416
Publication
First Author: Anjomani Virmouni S
Year: 2015
Journal: Dis Model Mech
Title: A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
Volume: 8
Issue: 3
Pages: 225-35
Publication
First Author: Stephenson JR
Year: 2017
Journal: J Neurosci
Title: A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.
Volume: 37
Issue: 8
Pages: 2216-2233
Allele
Name: glucosidase, alpha, acid; endonuclease-mediated mutation 2, Jeffrey Huang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
Allele
Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
Allele Type: Targeted
Attribute String: Hypomorph, Knockdown
Publication
First Author: Cao S
Year: 2010
Journal: Dis Model Mech
Title: Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.
Volume: 3
Issue: 5-6
Pages: 386-96
Publication
First Author: Yokoi F
Year: 2009
Journal: Neurosci Res
Title: Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice.
Volume: 65
Issue: 3
Pages: 228-35
Publication
First Author: György B
Year: 2018
Journal: Sci Rep
Title: Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts.
Volume: 8
Issue: 1
Pages: 2324
Publication
First Author: McCarthy DM
Year: 2012
Journal: Dev Neurosci
Title: Neurogenesis and neuronal migration in the forebrain of the TorsinA knockout mouse embryo.
Volume: 34
Issue: 4
Pages: 366-78
Publication
First Author: Dang MT
Year: 2012
Journal: Behav Brain Res
Title: An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.
Volume: 226
Issue: 2
Pages: 465-72
Publication
First Author: Yokoi F
Year: 2013
Journal: PLoS One
Title: Pre-synaptic release deficits in a DYT1 dystonia mouse model.
Volume: 8
Issue: 8
Pages: e72491
Publication  
First Author: DeSimone JC
Year: 2016
Journal: Neurobiol Dis
Title: In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.
Volume: 95
Pages: 35-45
Publication  
First Author: Yokoi F
Year: 2015
Journal: Behav Brain Res
Title: Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.
Volume: 279
Pages: 202-10
Strain
Attribute String: congenic, mutant strain, transgenic
Strain
Attribute String: mutant stock, targeted mutation, transgenic
Strain
Attribute String: congenic, transgenic
Strain
Attribute String: mutant stock, transgenic
Publication
First Author: Jones J
Year: 2015
Journal: Mol Ther
Title: Mesenchymal stem cells improve motor functions and decrease neurodegeneration in ataxic mice.
Volume: 23
Issue: 1
Pages: 130-8
Genotype
Symbol: Tor1a/Tor1a
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Tor1a/Tor1a<+>
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: ht
Has Mutant Allele: true