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Search results 1 to 73 out of 73 for Ctns

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Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication  
First Author: Simpson J
Year: 2011
Journal: Mol Vis
Title: Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.
Volume: 17
Pages: 2212-20
Publication  
First Author: Cherqui S
Year: 2000
Journal: BMC Genomics
Title: Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.
Volume: 1
Pages: 2
Publication
First Author: Cherqui S
Year: 2002
Journal: Mol Cell Biol
Title: Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
Volume: 22
Issue: 21
Pages: 7622-32
Publication
First Author: Chiaverini C
Year: 2012
Journal: FASEB J
Title: Cystinosin is a melanosomal protein that regulates melanin synthesis.
Volume: 26
Issue: 9
Pages: 3779-89
Publication
First Author: Andrzejewska Z
Year: 2016
Journal: J Am Soc Nephrol
Title: Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.
Volume: 27
Issue: 6
Pages: 1678-88
Publication
First Author: Raggi C
Year: 2014
Journal: Hum Mol Genet
Title: Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.
Volume: 23
Issue: 9
Pages: 2266-78
Publication
First Author: Battafarano G
Year: 2019
Journal: Am J Pathol
Title: Intrinsic Bone Defects in Cystinotic Mice.
Volume: 189
Issue: 5
Pages: 1053-1064
Publication
First Author: Nevo N
Year: 2010
Journal: Nephrol Dial Transplant
Title: Renal phenotype of the cystinosis mouse model is dependent upon genetic background.
Volume: 25
Issue: 4
Pages: 1059-66
Publication
First Author: Syres K
Year: 2009
Journal: Blood
Title: Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.
Volume: 114
Issue: 12
Pages: 2542-52
Publication
First Author: Galarreta CI
Year: 2015
Journal: Am J Physiol Renal Physiol
Title: The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.
Volume: 308
Issue: 10
Pages: F1155-66
Publication
First Author: Napolitano G
Year: 2015
Journal: EMBO Mol Med
Title: Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
Volume: 7
Issue: 2
Pages: 158-74
Publication
First Author: Johnson JL
Year: 2013
Journal: Mol Cell Biol
Title: Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
Volume: 33
Issue: 15
Pages: 2950-62
Publication
First Author: Janssens V
Year: 2019
Journal: J Am Soc Nephrol
Title: Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
Volume: 30
Issue: 11
Pages: 2177-2190
Publication
First Author: Taranta A
Year: 2008
Journal: Am J Physiol Renal Physiol
Title: Identification and subcellular localization of a new cystinosin isoform.
Volume: 294
Issue: 5
Pages: F1101-8
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
Publication
First Author: Maurice T
Year: 2009
Journal: Neurobiol Aging
Title: Cystine accumulation in the CNS results in severe age-related memory deficits.
Volume: 30
Issue: 6
Pages: 987-1000
Publication
First Author: Gaide Chevronnay HP
Year: 2015
Journal: Endocrinology
Title: A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.
Volume: 156
Issue: 6
Pages: 2349-64
Publication
First Author: Gaide Chevronnay HP
Year: 2016
Journal: Endocrinology
Title: Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
Volume: 157
Issue: 4
Pages: 1363-71
Publication
First Author: Rocca CJ
Year: 2015
Journal: Invest Ophthalmol Vis Sci
Title: Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.
Volume: 56
Issue: 12
Pages: 7214-23
Publication
First Author: Festa BP
Year: 2018
Journal: Nat Commun
Title: Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.
Volume: 9
Issue: 1
Pages: 161
Publication  
First Author: Simpson JL
Year: 2011
Journal: Mol Vis
Title: Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.
Volume: 17
Pages: 2649-54
Publication
First Author: Lobry T
Year: 2019
Journal: Kidney Int
Title: Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation inĀ kidney involvement of cystinosis.
Volume: 96
Issue: 2
Pages: 350-362
Publication
First Author: Zhang J
Year: 2017
Journal: J Biol Chem
Title: Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.
Volume: 292
Issue: 25
Pages: 10328-10346
Publication
First Author: Sutter I
Year: 2014
Journal: J Lipid Res
Title: Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate.
Volume: 55
Issue: 8
Pages: 1730-7
Publication
First Author: Gailly P
Year: 2008
Journal: Kidney Int
Title: A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunction.
Volume: 74
Issue: 1
Pages: 52-61
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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: 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
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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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: 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 Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl 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 Gene 1.0 ST 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 Genome 430 2.0 Array Platform
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Allele
Name: cystinosis, nephropathic; targeted mutation 1, Corinne Antignac
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Publication categories: ProxyCollection
Genotype
Symbol: Ctns/Ctns
Background: involves: 129/Sv * C57BL/6
Zygosity: hm
Has Mutant Allele: true
DO Term