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Search results 1 to 74 out of 74 for Gne

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Category: Publication
Type Details Score
Publication
First Author: Yonekawa T
Year: 2014
Journal: Brain
Title: Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
Volume: 137
Issue: Pt 10
Pages: 2670-9
Publication
First Author: Sela I
Year: 2013
Journal: Neuromolecular Med
Title: Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Volume: 15
Issue: 1
Pages: 180-91
Publication
First Author: Malicdan MC
Year: 2007
Journal: Hum Mol Genet
Title: A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Volume: 16
Issue: 22
Pages: 2669-82
Publication
First Author: Cho A
Year: 2017
Journal: Hum Mol Genet
Title: Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
Volume: 26
Issue: 16
Pages: 3081-3093
Publication  
First Author: Ilouz N
Year: 2022
Journal: Front Genome Ed
Title: In vivo and in vitro genome editing to explore GNE functions.
Volume: 4
Pages: 930110
Publication
First Author: Malicdan MC
Year: 2007
Journal: Hum Mol Genet
Title: A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Volume: 16
Issue: 2
Pages: 115-28
Publication
First Author: Milman Krentsis I
Year: 2011
Journal: PLoS One
Title: GNE is involved in the early development of skeletal and cardiac muscle.
Volume: 6
Issue: 6
Pages: e21389
Publication
First Author: Kakani S
Year: 2012
Journal: Am J Pathol
Title: The Gne M712T mouse as a model for human glomerulopathy.
Volume: 180
Issue: 4
Pages: 1431-40
Publication
First Author: Niethamer TK
Year: 2012
Journal: Mol Genet Metab
Title: Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Volume: 107
Issue: 4
Pages: 748-55
Publication
First Author: Ito M
Year: 2012
Journal: PLoS One
Title: Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.
Volume: 7
Issue: 1
Pages: e29873
Publication
First Author: Chan YM
Year: 2017
Journal: PLoS One
Title: Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.
Volume: 12
Issue: 3
Pages: e0173261
Publication
First Author: Huang L
Year: 2024
Journal: Blood Adv
Title: Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
Volume: 8
Issue: 4
Pages: 991-1001
Publication
First Author: Malicdan MC
Year: 2008
Journal: Physiol Genomics
Title: Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
Volume: 35
Issue: 1
Pages: 106-15
Publication
First Author: Schwarzkopf M
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Sialylation is essential for early development in mice.
Volume: 99
Issue: 8
Pages: 5267-70
Publication
First Author: Yardeni T
Year: 2013
Journal: Glycoconj J
Title: Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
Volume: 30
Issue: 6
Pages: 609-18
Publication
First Author: Paccalet T
Year: 2010
Journal: PLoS One
Title: Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Volume: 5
Issue: 4
Pages: e10055
Publication
First Author: Hanisch F
Year: 2013
Journal: PLoS One
Title: Sialylation and muscle performance: sialic acid is a marker of muscle ageing.
Volume: 8
Issue: 12
Pages: e80520
Publication
First Author: Benyamini H
Year: 2020
Journal: J Neuromuscul Dis
Title: Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
Volume: 7
Issue: 2
Pages: 119-136
Publication
First Author: Delaunay A
Year: 2008
Journal: PLoS One
Title: The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis.
Volume: 3
Issue: 2
Pages: e1609
Publication
First Author: Kreuzmann D
Year: 2017
Journal: Chembiochem
Title: Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.
Volume: 18
Issue: 13
Pages: 1188-1193
Publication  
First Author: Peng J
Year: 2023
Journal: Mol Metab
Title: Hepatic sialic acid synthesis modulates glucose homeostasis in both liver and skeletal muscle.
Volume: 78
Pages: 101812
Publication
First Author: Horstkorte R
Year: 1999
Journal: Eur J Biochem
Title: Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.
Volume: 260
Issue: 3
Pages: 923-7
Publication
First Author: Horstkorte R
Year: 2000
Journal: FEBS Lett
Title: Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.
Volume: 470
Issue: 3
Pages: 315-8
Publication
First Author: Galeano B
Year: 2007
Journal: J Clin Invest
Title: Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Volume: 117
Issue: 6
Pages: 1585-94
Publication
First Author: Takagaki S
Year: 2019
Journal: Sci Rep
Title: Galactosyl carbohydrate residues on hematopoietic stem/progenitor cells are essential for homing and engraftment to the bone marrow.
Volume: 9
Issue: 1
Pages: 7133
Publication  
First Author: Klaus C
Year: 2020
Journal: Neurobiol Aging
Title: Reduced sialylation triggers homeostatic synapse and neuronal loss in middle-aged mice.
Volume: 88
Pages: 91-107
Publication
First Author: Ohnemus S
Year: 2002
Journal: Mech Dev
Title: Aortic arch and pharyngeal phenotype in the absence of BMP-dependent neural crest in the mouse.
Volume: 119
Issue: 2
Pages: 127-35
Publication
First Author: Bulfone A
Year: 2005
Journal: J Neurosci
Title: Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes.
Volume: 25
Issue: 33
Pages: 7586-600
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniPathway vocabulary mapping
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2023
Title: TreeGrafter-generated GO annotations
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication  
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Publication
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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: 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: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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: 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: 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: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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: 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: 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: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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: Bailly-Maitre B
Year: 2006
Journal: Proc Natl Acad Sci U S A
Title: Cytoprotective gene bi-1 is required for intrinsic protection from endoplasmic reticulum stress and ischemia-reperfusion injury.
Volume: 103
Issue: 8
Pages: 2809-14
Publication
First Author: Glaze PA
Year: 2008
Journal: Biochemistry
Title: Biosynthesis of CMP-N,N'-diacetyllegionaminic acid from UDP-N,N'-diacetylbacillosamine in Legionella pneumophila.
Volume: 47
Issue: 10
Pages: 3272-82
Publication
First Author: Eisenberg I
Year: 2002
Journal: Biochem Biophys Res Commun
Title: Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain.
Volume: 294
Issue: 5
Pages: 1169-76
Publication
First Author: Malicdan MC
Year: 2009
Journal: Nat Med
Title: Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
Volume: 15
Issue: 6
Pages: 690-5
Publication
First Author: Meier-Dieter U
Year: 1990
Journal: J Biol Chem
Title: Biosynthesis of enterobacterial common antigen in Escherichia coli. Biochemical characterization of Tn10 insertion mutants defective in enterobacterial common antigen synthesis.
Volume: 265
Issue: 23
Pages: 13490-7