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Search results 1 to 89 out of 89 for Elp1

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Category: Publication
Type Details Score
Publication
First Author: Morini E
Year: 2019
Journal: Am J Hum Genet
Title: ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Volume: 104
Issue: 4
Pages: 638-650
Publication
First Author: Donadon I
Year: 2018
Journal: Hum Mol Genet
Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Volume: 27
Issue: 14
Pages: 2466-2476
Publication  
First Author: Cameron B
Year: 2021
Journal: Biol Open
Title: Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway.
Volume: 10
Issue: 9
Publication  
First Author: Arnskötter F
Year: 2024
Journal: Neurobiol Dis
Title: Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.
Volume: 199
Pages: 106600
Publication    
First Author: Leonard CE
Year: 2022
Journal: Elife
Title: Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.
Volume: 11
Publication  
First Author: Tolman Z
Year: 2022
Journal: Dis Model Mech
Title: Elp1 is required for development of visceral sensory peripheral and central circuitry.
Volume: 15
Issue: 5
Publication
First Author: Jackson MZ
Year: 2014
Journal: Development
Title: A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.
Volume: 141
Issue: 12
Pages: 2452-61
Publication
First Author: Otero G
Year: 1999
Journal: Mol Cell
Title: Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation.
Volume: 3
Issue: 1
Pages: 109-18
Publication
First Author: Krogan NJ
Year: 2001
Journal: Mol Cell Biol
Title: Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae.
Volume: 21
Issue: 23
Pages: 8203-12
Publication
First Author: Huang B
Year: 2005
Journal: RNA
Title: An early step in wobble uridine tRNA modification requires the Elongator complex.
Volume: 11
Issue: 4
Pages: 424-36
Publication
First Author: Glatt S
Year: 2012
Journal: Transcription
Title: Elongator: transcriptional or translational regulator?
Volume: 3
Issue: 6
Pages: 273-6
Publication
First Author: Bauer F
Year: 2012
Journal: Cell Cycle
Title: A coordinated codon-dependent regulation of translation by Elongator.
Volume: 11
Issue: 24
Pages: 4524-9
Publication
First Author: Schultz A
Year: 2023
Journal: Sci Rep
Title: Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Volume: 13
Issue: 1
Pages: 18600
Publication
First Author: Harripaul R
Year: 2024
Journal: Sci Rep
Title: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Volume: 14
Issue: 1
Pages: 570
Publication
First Author: Wu HF
Year: 2022
Journal: Nat Commun
Title: Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models.
Volume: 13
Issue: 1
Pages: 7032
Publication  
First Author: Laguesse S
Year: 2017
Journal: Front Cell Neurosci
Title: Loss of Elp3 Impairs the Acetylation and Distribution of Connexin-43 in the Developing Cerebral Cortex.
Volume: 11
Pages: 122
Publication
First Author: Close P
Year: 2012
Journal: J Biol Chem
Title: DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
Volume: 287
Issue: 39
Pages: 32535-45
Publication
First Author: Lin FJ
Year: 2013
Journal: PLoS Genet
Title: Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression.
Volume: 9
Issue: 5
Pages: e1003516
Publication
First Author: Yang KT
Year: 2019
Journal: Sci Rep
Title: Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility.
Volume: 9
Issue: 1
Pages: 18875
Publication  
First Author: Ueki Y
Year: 2018
Journal: Dis Model Mech
Title: Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.
Volume: 11
Issue: 7
Publication
First Author: Cheishvili D
Year: 2014
Journal: PLoS One
Title: IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation.
Volume: 9
Issue: 4
Pages: e94612
Publication
First Author: Bochner R
Year: 2013
Journal: Hum Mol Genet
Title: Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.
Volume: 22
Issue: 14
Pages: 2785-94
Publication
First Author: Cheney AM
Year: 2023
Journal: Nat Commun
Title: Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.
Volume: 14
Issue: 1
Pages: 218
Publication  
First Author: Ueki Y
Year: 2016
Journal: eNeuro
Title: Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.
Volume: 3
Issue: 5
Publication
First Author: Morini E
Year: 2016
Journal: Hum Mol Genet
Title: Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Volume: 25
Issue: 6
Pages: 1116-28
Publication
First Author: Hims MM
Year: 2007
Journal: Genomics
Title: A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Volume: 90
Issue: 3
Pages: 389-96
Publication
First Author: Johansen LD
Year: 2008
Journal: J Cell Sci
Title: IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration.
Volume: 121
Issue: Pt 6
Pages: 854-64
Publication
First Author: Coli R
Year: 2001
Journal: Gene
Title: Genomic organization and chromosomal localization of the mouse IKBKAP gene.
Volume: 279
Issue: 1
Pages: 81-9
Publication
First Author: Dietrich P
Year: 2012
Journal: Hum Mol Genet
Title: IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.
Volume: 21
Issue: 23
Pages: 5078-90
Publication
First Author: Cuajungco MP
Year: 2001
Journal: DNA Cell Biol
Title: Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
Volume: 20
Issue: 9
Pages: 579-86
Publication
First Author: Creppe C
Year: 2009
Journal: Cell
Title: Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin.
Volume: 136
Issue: 3
Pages: 551-64
Publication
First Author: Even A
Year: 2021
Journal: Nat Commun
Title: ATP-citrate lyase promotes axonal transport across species.
Volume: 12
Issue: 1
Pages: 5878
Publication
First Author: Goffena J
Year: 2018
Journal: Nat Commun
Title: Elongator and codon bias regulate protein levels in mammalian peripheral neurons.
Volume: 9
Issue: 1
Pages: 889
Publication
First Author: Ohlen SB
Year: 2017
Journal: Proc Natl Acad Sci U S A
Title: BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.
Volume: 114
Issue: 19
Pages: 5035-5040
Publication
First Author: Chaverra M
Year: 2017
Journal: Dis Model Mech
Title: The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.
Volume: 10
Issue: 5
Pages: 605-618
Publication
First Author: Dietrich P
Year: 2011
Journal: PLoS One
Title: Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.
Volume: 6
Issue: 10
Pages: e27015
Publication
First Author: Freeman S
Year: 2019
Journal: EMBO Rep
Title: Proteostasis is essential during cochlear development for neuron survival and hair cell polarity.
Volume: 20
Issue: 9
Pages: e47097
Publication
First Author: George L
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons.
Volume: 110
Issue: 46
Pages: 18698-703
Publication
First Author: Naftelberg S
Year: 2016
Journal: PLoS Genet
Title: Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.
Volume: 12
Issue: 12
Pages: e1006486
Publication
First Author: Kojic M
Year: 2021
Journal: Nat Commun
Title: Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Volume: 12
Issue: 1
Pages: 2678
Publication
First Author: Ni L
Year: 2016
Journal: Mol Reprod Dev
Title: Multiple roles of FOXJ3 in spermatogenesis: A lesson from Foxj3 conditional knockout mouse models.
Volume: 83
Issue: 12
Pages: 1060-1069
Publication
First Author: Chen YT
Year: 2009
Journal: Mol Cell Biol
Title: Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Volume: 29
Issue: 3
Pages: 736-44
Publication  
First Author: Melnick M
Year: 2009
Journal: BMC Dev Biol
Title: Salivary gland branching morphogenesis: a quantitative systems analysis of the Eda/Edar/NFkappaB paradigm.
Volume: 9
Pages: 32
Publication
First Author: Di Michele M
Year: 2025
Journal: Nat Commun
Title: E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.
Volume: 16
Issue: 1
Pages: 67
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
First Author: Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP)
Year: 2011
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal
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: RIKEN Data Curation in Mouse Genome Informatics
Publication
First Author: Ko MS
Year: 2000
Journal: Development
Title: Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Volume: 127
Issue: 8
Pages: 1737-49
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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 (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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
Publication
First Author: Riccardi F
Year: 2024
Journal: PLoS One
Title: Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Volume: 19
Issue: 6
Pages: e0298965
Publication
First Author: Abdel-Fattah W
Year: 2015
Journal: PLoS Genet
Title: Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast.
Volume: 11
Issue: 1
Pages: e1004931
Publication
First Author: Winkler GS
Year: 2001
Journal: J Biol Chem
Title: RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes.
Volume: 276
Issue: 35
Pages: 32743-9
Publication
First Author: Ninomiya Y
Year: 1995
Journal: J Biochem
Title: Genomic organization and isoforms of the mouse ELP gene.
Volume: 118
Issue: 2
Pages: 380-9
Publication
First Author: Okada Y
Year: 2010
Journal: Nature
Title: A role for the elongator complex in zygotic paternal genome demethylation.
Volume: 463
Issue: 7280
Pages: 554-8
Publication
First Author: Avraham S
Year: 1997
Journal: Gene
Title: Characterization and chromosomal localization of PTPRO, a novel receptor protein tyrosine phosphatase, expressed in hematopoietic stem cells.
Volume: 204
Issue: 1-2
Pages: 5-16