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Search results 1 to 46 out of 46 for Prrt2

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Category: Publication
Type Details Score
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: Savino E
Year: 2021
Journal: Cells
Title: An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
Volume: 10
Issue: 10
Publication
First Author: Ferrante D
Year: 2021
Journal: Cell Rep
Title: PRRT2 modulates presynaptic Ca2+ influx by interacting with P/Q-type channels.
Volume: 35
Issue: 11
Pages: 109248
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: 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: 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: Sterlini B
Year: 2021
Journal: Cell Death Dis
Title: An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.
Volume: 12
Issue: 4
Pages: 292
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: Lu B
Year: 2021
Journal: Cell Rep
Title: Cerebellar spreading depolarization mediates paroxysmal movement disorder.
Volume: 36
Issue: 12
Pages: 109743
Publication
First Author: Aj F
Year: 2021
Journal: Neurogenetics
Title: Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
Volume: 22
Issue: 3
Pages: 171-185
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
Publication
First Author: Shu M
Year: 2022
Journal: Dev Cell
Title: Single-cell chromatin accessibility identifies enhancer networks driving gene expression during spinal cord development in mouse.
Volume: 57
Issue: 24
Pages: 2761-2775.e6
Publication
First Author: Ingham NJ
Year: 2019
Journal: PLoS Biol
Title: Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Volume: 17
Issue: 4
Pages: e3000194
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: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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: 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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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: 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 (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 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
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: Li M
Year: 2015
Journal: Int J Mol Sci
Title: PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
Volume: 16
Issue: 5
Pages: 9134-51
Publication
First Author: Liu YT
Year: 2016
Journal: Oncotarget
Title: PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Volume: 7
Issue: 26
Pages: 39184-39196
Publication
First Author: Heron SE
Year: 2012
Journal: Am J Hum Genet
Title: PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Volume: 90
Issue: 1
Pages: 152-60
Publication
First Author: Lee HY
Year: 2012
Journal: Cell Rep
Title: Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Volume: 1
Issue: 1
Pages: 2-12