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Search results 1 to 100 out of 127 for Fkrp

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Hits by Strain

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Type Details Score
Gene
79147 | FKRP
Type: gene
Organism: human
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Gene
746394 | FKRP
Type: gene
Organism: chimpanzee
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Gene
539701 | FKRP
Type: gene
Organism: cattle
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Gene
571426 | fkrp
Type: gene
Organism: zebrafish
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Gene
716804 | FKRP
Type: gene
Organism: macaque, rhesus
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Gene
100145309 | fkrp
Type: gene
Organism: frog, western clawed
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Gene
308390 | Fkrp
Type: gene
Organism: rat
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Gene
484426 | FKRP
Type: gene
Organism: dog, domestic
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Protein Coding Gene
MGI:2447586 | Fkrp
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
19900540 | J:159047
First Author: Lu PJ
Year: 2010
Journal: Biochim Biophys Acta
Title: Mutations alter secretion of fukutin-related protein.
Volume: 1802
Issue: 2
Pages: 253-8
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Publication
20675713 | J:164448
First Author: Chan YM
Year: 2010
Journal: Hum Mol Genet
Title: Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
Volume: 19
Issue: 20
Pages: 3995-4006
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Publication
23591631 | J:257098
First Author: Blaeser A
Year: 2013
Journal: Hum Genet
Title: Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Volume: 132
Issue: 8
Pages: 923-34
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Publication
23817215 | J:279193
First Author: Xu L
Year: 2013
Journal: Mol Ther
Title: Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.
Volume: 21
Issue: 10
Pages: 1832-40
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Publication
17452335 | J:122734
First Author: Beedle AM
Year: 2007
Journal: J Biol Chem
Title: Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
Volume: 282
Issue: 23
Pages: 16713-7
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Publication
25976249 | J:223307
First Author: Awano H
Year: 2015
Journal: Am J Pathol
Title: Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
Volume: 185
Issue: 7
Pages: 2025-37
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Publication
28334834 | J:242245
First Author: Gicquel E
Year: 2017
Journal: Hum Mol Genet
Title: AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.
Volume: 26
Issue: 10
Pages: 1952-1965
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Publication
26923585 | J:234365
First Author: Kanagawa M
Year: 2016
Journal: Cell Rep
Title: Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Volume: 14
Issue: 9
Pages: 2209-2223
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Publication
27711214 | J:259260
First Author: Blaeser A
Year: 2016
Journal: PLoS One
Title: Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.
Volume: 11
Issue: 10
Pages: e0164187
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Publication
29571322 | J:261114
First Author: Wu B
Year: 2018
Journal: Am J Pathol
Title: Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy.
Volume: 188
Issue: 4
Pages: 1069-1080
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Publication
29320543 | J:257013
First Author: Blaeser A
Year: 2018
Journal: PLoS One
Title: Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice.
Volume: 13
Issue: 1
Pages: e0191016
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Publication
27561302 | J:235580
First Author: Thomas PJ
Year: 2016
Journal: Am J Pathol
Title: B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I.
Volume: 186
Issue: 9
Pages: 2429-48
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Publication
12471058 | J:80808
First Author: Esapa CT
Year: 2002
Journal: Hum Mol Genet
Title: Functional requirements for fukutin-related protein in the Golgi apparatus.
Volume: 11
Issue: 26
Pages: 3319-31
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Publication
30150693 | J:266505
First Author: Cataldi MP
Year: 2018
Journal: Nat Commun
Title: Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.
Volume: 9
Issue: 1
Pages: 3448
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Publication
26574668 | J:285924
First Author: Krag TO
Year: 2015
Journal: J Neuropathol Exp Neurol
Title: A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.
Volume: 74
Issue: 12
Pages: 1137-46
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Publication
31296900 | J:283819
First Author: Vannoy CH
Year: 2019
Journal: Sci Rep
Title: Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement After Gene Replacement Therapy.
Volume: 9
Issue: 1
Pages: 10070
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Publication
21224063 | J:168086
First Author: Wang CH
Year: 2011
Journal: Am J Pathol
Title: Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].
Volume: 178
Issue: 1
Pages: 261-72
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Publication
28663375 | J:276696
First Author: Maricelli JW
Year: 2017
Journal: J Appl Physiol (1985)
Title: Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i.
Volume: 123
Issue: 5
Pages: 1126-1138
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Publication
29625576 | J:288190
First Author: Yu Q
Year: 2018
Journal: Skelet Muscle
Title: Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.
Volume: 8
Issue: 1
Pages: 13
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Publication
15574464 | J:95699
First Author: Esapa CT
Year: 2005
Journal: Hum Mol Genet
Title: Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Volume: 14
Issue: 2
Pages: 295-305
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Publication
24635668 | J:278785
First Author: Vannoy CH
Year: 2014
Journal: Hum Gene Ther Methods
Title: Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.
Volume: 25
Issue: 3
Pages: 187-96
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Publication
19155270 | J:164634
First Author: Ackroyd MR
Year: 2009
Journal: Brain
Title: Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Volume: 132
Issue: Pt 2
Pages: 439-51
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Publication
28107841 | J:240736
First Author: Vannoy CH
Year: 2017
Journal: Am J Pathol
Title: Adeno-Associated Virus-Mediated Mini-Agrin Delivery Is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I.
Volume: 187
Issue: 2
Pages: 431-440
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Publication
24234655 | J:207119
First Author: Whitmore C
Year: 2014
Journal: Hum Mol Genet
Title: The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
Volume: 23
Issue: 7
Pages: 1842-55
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Publication
26306834 | J:258757
First Author: Booler HS
Year: 2016
Journal: Brain Pathol
Title: Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
Volume: 26
Issue: 4
Pages: 465-78
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Publication
22270369 | J:183288
First Author: Kuga A
Year: 2012
Journal: J Biol Chem
Title: Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.
Volume: 287
Issue: 12
Pages: 9560-7
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Publication
21900571 | J:176572
First Author: Ackroyd MR
Year: 2011
Journal: J Neurosci
Title: Fukutin-related protein alters the deposition of laminin in the eye and brain.
Volume: 31
Issue: 36
Pages: 12927-35
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Protein Coding Gene
MGP_CAROLIEiJ_G0029241 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0031717 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0031689 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0031614 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0031696 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0031418 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2447586 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0032162 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0030769 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0031377 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0031533 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0031489 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0031618 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0031524 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0032191 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0030493 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0030866 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0021097 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0030320 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
27627455 | J:256801
First Author: Maricelli JW
Year: 2016
Journal: PLoS One
Title: Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i.
Volume: 11
Issue: 9
Pages: e0161984
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Publication
27109613 | J:233681
First Author: Wu B
Year: 2016
Journal: Am J Pathol
Title: Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.
Volume: 186
Issue: 6
Pages: 1635-48
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Publication
31091146 | J:276694
First Author: Fenwick AJ
Year: 2019
Journal: Am J Physiol Cell Physiol
Title: Demembranated skeletal and cardiac fibers produce less force with altered cross-bridge kinetics in a mouse model for limb-girdle muscular dystrophy 2i.
Volume: 317
Issue: 2
Pages: C226-C234
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Publication
28860175 | J:276695
First Author: Rehwaldt JD
Year: 2017
Journal: J Appl Physiol (1985)
Title: Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i.
Volume: 123
Issue: 6
Pages: 1698-1707
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GXD Expression
GXD Expression
   
Probe: MGI:6200732
Assay Type: RT-PCR
Annotation Date: 2018-10-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689425
Stage: TS25
Assay Id: MGI:6200810
Age: embryonic day 17.5
Image: 2
Specimen Label: +/+
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:6200732
Assay Type: RT-PCR
Annotation Date: 2018-10-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689425
Stage: TS25
Assay Id: MGI:6200810
Age: embryonic day 17.5
Image: 2
Specimen Label: -/-
Detected: true
Specimen Num: 2
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Publication
28859131 | J:243745
First Author: Krebs MP
Year: 2017
Journal: PLoS One
Title: Mouse models of human ocular disease for translational research.
Volume: 12
Issue: 8
Pages: e0183837
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Publication
28039900 | J:258876
First Author: Booler HS
Year: 2017
Journal: Neuropathol Appl Neurobiol
Title: Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.
Volume: 43
Issue: 4
Pages: 330-345
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Publication
24256719 | J:215959
 
First Author: Yagi H
Year: 2013
Journal: Sci Rep
Title: AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan.
Volume: 3
Pages: 3288
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Publication
15837576 | J:97950
First Author: Kurahashi H
Year: 2005
Journal: Neurobiol Dis
Title: Basement membrane fragility underlies embryonic lethality in fukutin-null mice.
Volume: 19
Issue: 1-2
Pages: 208-17
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:82809
     
First Author: European Mouse Mutant Archive
Year: 2003
Journal: Unpublished
Title: Information obtained from the European Mouse Mutant Archive (EMMA)
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Publication
32290105 | J:282558
 
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
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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: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:148605
     
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
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Publication
18799693 | J:142754
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
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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: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
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
- | J:141210
     
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
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Publication
21677750 | J:173534
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
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Publication
- | J:60000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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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: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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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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: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: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: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: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:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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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:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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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:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:144087
     
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
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UniProt Feature
UniProt Feature
Begin: 1
Description: Ribitol 5-phosphate transferase FKRP
Type: chain
End: 494
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Protein
Q05C54
Organism: Mus musculus/domesticus
Length: 217  
Fragment?: true
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Protein
Q8CG64
Organism: Mus musculus/domesticus
Length: 494  
Fragment?: false
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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.

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