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Search results 1 to 100 out of 123 for Nhlrc1

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Hits by Category

Hits by Strain

Type Details Score
Gene
378884 | NHLRC1
Type: gene
Organism: human
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Gene
100492212 | nhlrc1
Type: gene
Organism: frog, western clawed
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Gene
364682 | Nhlrc1
Type: gene
Organism: rat
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Gene
474161 | NHLRC1
Type: gene
Organism: dog, domestic
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Gene
747581 | NHLRC1
Type: gene
Organism: chimpanzee
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Gene
538814 | NHLRC1
Type: gene
Organism: cattle
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Gene
428477 | NHLRC1
Type: gene
Organism: chicken
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Gene
704451 | NHLRC1
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
MGI:2145264 | Nhlrc1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
21077101 | J:181674
First Author: Turnbull J
Year: 2010
Journal: Ann Neurol
Title: Glycogen hyperphosphorylation underlies lafora body formation.
Volume: 68
Issue: 6
Pages: 925-33
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Publication
22186026 | J:181559
First Author: Criado O
Year: 2012
Journal: Hum Mol Genet
Title: Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Volume: 21
Issue: 7
Pages: 1521-33
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Publication
22669944 | J:274442
First Author: Tiberia E
Year: 2012
Journal: J Biol Chem
Title: Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
Volume: 287
Issue: 30
Pages: 25650-9
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Publication
12958597 | -
First Author: Chan EM
Year: 2003
Journal: Nat Genet
Title: Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Volume: 35
Issue: 2
Pages: 125-7
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Publication
22578008 | J:199208
First Author: Zeng L
Year: 2012
Journal: FEBS J
Title: Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
Volume: 279
Issue: 14
Pages: 2467-78
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Publication
32785985 | J:313793
First Author: Taneja K
Year: 2021
Journal: J Comp Neurol
Title: Dendritic spine abnormalities correlate with behavioral and cognitive deficits in mouse models of Lafora disease.
Volume: 529
Issue: 6
Pages: 1099-1120
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Publication
28063983 | J:259757
 
First Author: Upadhyay M
Year: 2017
Journal: Neurobiol Dis
Title: Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
Volume: 100
Pages: 39-51
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Protein
Q8BR37
Organism: Mus musculus/domesticus
Length: 401  
Fragment?: false
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Protein Coding Gene
MGP_CAROLIEiJ_G0018485 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0020517 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0020471 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0020448 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0020467 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0020266 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2145264 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0020900 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0019781 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0020227 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0020349 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0020328 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0020424 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0020357 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0020943 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0019537 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0019843 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0019553 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0019365 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
20538597 | J:165994
First Author: DePaoli-Roach AA
Year: 2010
Journal: J Biol Chem
Title: Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.
Volume: 285
Issue: 33
Pages: 25372-81
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Publication
31108086 | J:287828
 
First Author: Muñoz-Ballester C
Year: 2019
Journal: Exp Neurol
Title: In vivo glutamate clearance defects in a mouse model of Lafora disease.
Volume: 320
Pages: 112959
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Publication
36526090 | J:334396
 
First Author: Rubio T
Year: 2023
Journal: Neurobiol Dis
Title: TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy.
Volume: 176
Pages: 105964
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Publication
28181916 | J:274445
First Author: Sánchez-Elexpuru G
Year: 2017
Journal: Neuroreport
Title: 4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease.
Volume: 28
Issue: 5
Pages: 268-271
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Publication
25627694 | J:274457
First Author: Berthier A
Year: 2016
Journal: Mol Neurobiol
Title: Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.
Volume: 53
Issue: 2
Pages: 1296-309
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Publication
15930137 | J:322978
First Author: Gentry MS
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
Volume: 102
Issue: 24
Pages: 8501-6
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Publication
23663739 | J:199271
First Author: Nitschke F
Year: 2013
Journal: Cell Metab
Title: Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.
Volume: 17
Issue: 5
Pages: 756-67
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Publication
38588813 | J:348085
First Author: Skurat AV
Year: 2024
Journal: J Biol Chem
Title: Impaired malin expression and interaction with partner proteins in Lafora disease.
Volume: 300
Issue: 5
Pages: 107271
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Publication
25416783 | J:217884
First Author: DePaoli-Roach AA
Year: 2015
Journal: J Biol Chem
Title: Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.
Volume: 290
Issue: 2
Pages: 841-50
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Publication
22487859 | J:274555
First Author: García-Cabrero AM
Year: 2012
Journal: J Neuropathol Exp Neurol
Title: Laforin and malin deletions in mice produce similar neurologic impairments.
Volume: 71
Issue: 5
Pages: 413-21
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Publication
27041370 | J:274454
First Author: López-González I
Year: 2017
Journal: Mol Neurobiol
Title: Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.
Volume: 54
Issue: 5
Pages: 3119-3130
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Publication
29408991 | J:274444
First Author: Rubio-Villena C
Year: 2018
Journal: Hum Mol Genet
Title: Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.
Volume: 27
Issue: 7
Pages: 1290-1300
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Publication
22186021 | J:181561
First Author: DePaoli-Roach AA
Year: 2012
Journal: Hum Mol Genet
Title: Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.
Volume: 21
Issue: 7
Pages: 1604-10
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Publication
19529779 | J:150197
First Author: Vernia S
Year: 2009
Journal: PLoS One
Title: Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.
Volume: 4
Issue: 6
Pages: e5907
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Publication
24914213 | J:216005
First Author: Garyali P
Year: 2014
Journal: J Biol Chem
Title: Protein degradation and quality control in cells from laforin and malin knockout mice.
Volume: 289
Issue: 30
Pages: 20606-14
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Publication
24838580 | J:274452
First Author: Romá-Mateo C
Year: 2015
Journal: Mol Neurobiol
Title: Increased oxidative stress and impaired antioxidant response in Lafora disease.
Volume: 51
Issue: 3
Pages: 932-46
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Publication
25309313 | J:274459
 
First Author: García-Cabrero AM
Year: 2014
Journal: Front Neurosci
Title: Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole.
Volume: 8
Pages: 291
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Publication
33171226 | J:305155
 
First Author: Varea O
Year: 2021
Journal: Neurobiol Dis
Title: Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.
Volume: 147
Pages: 105173
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Publication
21882344 | J:218959
First Author: Valles-Ortega J
Year: 2011
Journal: EMBO Mol Med
Title: Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.
Volume: 3
Issue: 11
Pages: 667-81
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Publication
25059425 | J:216806
First Author: Sinadinos C
Year: 2014
Journal: Aging Cell
Title: Neuronal glycogen synthesis contributes to physiological aging.
Volume: 13
Issue: 5
Pages: 935-45
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Publication
32817315 | J:300607
First Author: Nitschke S
Year: 2020
Journal: J Biol Chem
Title: Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
Volume: 295
Issue: 43
Pages: 14698-14709
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Publication
24419970 | J:274556
First Author: Turnbull J
Year: 2014
Journal: Ann Neurol
Title: PTG protein depletion rescues malin-deficient Lafora disease in mouse.
Volume: 75
Issue: 3
Pages: 442-6
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Publication
33092303 | J:305089
 
First Author: Burgos DF
Year: 2020
Journal: Int J Mol Sci
Title: Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Volume: 21
Issue: 20
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Publication
36674605 | J:344533
 
First Author: Romá-Mateo C
Year: 2023
Journal: Int J Mol Sci
Title: Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress.
Volume: 24
Issue: 2
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Publication
34962634 | J:335108
First Author: Pellegrini P
Year: 2022
Journal: Mol Neurobiol
Title: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.
Volume: 59
Issue: 2
Pages: 1214-1229
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Publication
24452334 | J:210491
First Author: Duran J
Year: 2014
Journal: Hum Mol Genet
Title: Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.
Volume: 23
Issue: 12
Pages: 3147-56
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Publication
36511140 | J:334420
 
First Author: Mitra S
Year: 2023
Journal: Dis Model Mech
Title: Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Volume: 16
Issue: 1
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Publication
28536304 | J:262451
First Author: Nitschke F
Year: 2017
Journal: EMBO Mol Med
Title: Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
Volume: 9
Issue: 7
Pages: 906-917
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Publication
27107699 | J:235161
First Author: Jain N
Year: 2016
Journal: Biochem Biophys Res Commun
Title: FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy.
Volume: 474
Issue: 2
Pages: 321-327
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Publication
26976331 | J:255653
First Author: Muñoz-Ballester C
Year: 2016
Journal: Biochim Biophys Acta
Title: Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease.
Volume: 1862
Issue: 6
Pages: 1074-83
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Publication
30152044 | J:266981
First Author: Augé E
Year: 2018
Journal: Glia
Title: Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease.
Volume: 66
Issue: 10
Pages: 2094-2107
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Publication
31042462 | J:274435
First Author: Sullivan MA
Year: 2019
Journal: Cell Rep
Title: Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Volume: 27
Issue: 5
Pages: 1334-1344.e6
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Publication
17952067 | J:128463
First Author: Vilchez D
Year: 2007
Journal: Nat Neurosci
Title: Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.
Volume: 10
Issue: 11
Pages: 1407-13
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Publication
17908927 | J:125489
First Author: Cheng A
Year: 2007
Journal: Genes Dev
Title: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
Volume: 21
Issue: 19
Pages: 2399-409
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
- | J:101977
     
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:80155
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:342604
       
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
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Publication
16602821 | J:162220
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
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:342587
       
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
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
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
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
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
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
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).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
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
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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Cambridge CB2 3EH, United Kingdom