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Search results 1 to 100 out of 118 for Prrt2

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Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Rattus norvegicus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Pan Y
Year: 2020
Journal: Biochem Biophys Res Commun
Title: PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia.
Volume: 522
Issue: 3
Pages: 553-559
Publication  
First Author: Michetti C
Year: 2017
Journal: Neurobiol Dis
Title: The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.
Volume: 99
Pages: 66-83
Publication
First Author: Robertson L
Year: 2019
Journal: Genes Brain Behav
Title: Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.
Volume: 18
Issue: 5
Pages: e12566
Publication  
First Author: Calame DJ
Year: 2020
Journal: Neuroscience
Title: Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Volume: 448
Pages: 272-286
Publication
First Author: Chen WJ
Year: 2011
Journal: Nat Genet
Title: Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Volume: 43
Issue: 12
Pages: 1252-5
Publication
First Author: Fruscione F
Year: 2018
Journal: Brain
Title: PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Volume: 141
Issue: 4
Pages: 1000-1016
Publication
First Author: Valente P
Year: 2016
Journal: Cell Rep
Title: PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.
Volume: 15
Issue: 1
Pages: 117-31
Publication
First Author: Tan GH
Year: 2018
Journal: Cell Res
Title: PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Volume: 28
Issue: 1
Pages: 90-110
Publication  
First Author: Binda F
Year: 2021
Journal: Neurobiol Dis
Title: Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.
Volume: 152
Pages: 105275
Publication
First Author: Valente P
Year: 2019
Journal: Cereb Cortex
Title: Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
Volume: 29
Issue: 5
Pages: 2010-2033
Publication
First Author: Rossi P
Year: 2016
Journal: J Biol Chem
Title: A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.
Volume: 291
Issue: 12
Pages: 6111-23
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267828
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754928
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1778728
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812275
Age: postnatal month 3-6
Image: 1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754426
Stage: TS26
Assay Id: MGI:5812301
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754427
Stage: TS27
Assay Id: MGI:5812301
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812301
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812301
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812301
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812301
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754426
Stage: TS26
Assay Id: MGI:5812305
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754427
Stage: TS27
Assay Id: MGI:5812305
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 11
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754426
Stage: TS26
Assay Id: MGI:5812306
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754427
Stage: TS27
Assay Id: MGI:5812306
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 11
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284526
Stage: TS26
Assay Id: MGI:5812304
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284527
Stage: TS27
Assay Id: MGI:5812304
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812304
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812304
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812304
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812304
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284526
Stage: TS26
Assay Id: MGI:5812306
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284527
Stage: TS27
Assay Id: MGI:5812306
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812306
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 12
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284527
Stage: TS27
Assay Id: MGI:5812305
Age: postnatal day 1
Image: S1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 5
Image: S1
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 30
Image: S1
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 15
Image: S1
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284528
Stage: TS28
Assay Id: MGI:5812305
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 12
GXD Expression    
Probe: MGI:5812265
Assay Type: RT-PCR
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3284526
Stage: TS26
Assay Id: MGI:5812305
Age: embryonic day 18.0
Image: S1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3570428
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:5812289
Age: postnatal
Image: 7
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:5812289
Age: postnatal
Image: 7
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:5812290
Age: postnatal
Image: 7
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:5812290
Age: postnatal
Image: 7
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689422
Stage: TS22
Assay Id: MGI:5812292
Age: embryonic day 14.0
Image: S1
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3673228
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5812219
Assay Type: Western blot
Annotation Date: 2016-12-16
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3673128
Stage: TS28
Assay Id: MGI:5812292
Age: postnatal day 60
Image: S1
Detected: true
Specimen Num: 5
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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
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: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms