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Search results 1 to 100 out of 131 for Hps5

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Type Details Score
Gene
11234 | HPS5
Type: gene
Organism: human
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Gene
510165 | HPS5
Type: gene
Organism: cattle
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Gene
100037388 | hps5
Type: gene
Organism: zebrafish
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Gene
694434 | HPS5
Type: gene
Organism: macaque, rhesus
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Gene
107048993 | HPS5
Type: gene
Organism: chicken
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Gene
485404 | HPS5
Type: gene
Organism: dog, domestic
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Gene
451060 | HPS5
Type: gene
Organism: chimpanzee
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Gene
308598 | Hps5
Type: gene
Organism: rat
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Gene
100036709 | hps5
Type: gene
Organism: frog, western clawed
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Protein Domain
IPR035431 | HPS5
Type: Family
Description: Lysosome-related organelles comprise a group of specialised intracellular compartments that include melanosomes and platelet dense granules in mammals and eye pigment granules in insects. Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis. Genes associated with HPS encode subunits of three complexes that are known as biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 []. There are eight known HPS proteins of the BLOCs [, ]]. Organelles affected in HPS include the melanosome, resulting in hypopigmentation, and the platelet delta (dense) granule, resulting in prolonged bleeding times. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits BLOC-1. BLOC-1 and BLOC-2 act sequentially in the same pathway. Melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes. One pathway mediated by AP-3, and one pathway mediated by BLOC-1 and BLOC-2 []. The adaptor protein AP-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and melanosomes. BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1). BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 predominantly localise to early endosome-associated tubules [].Complex-2 (BLOC-2) contains the HPS3, HPS5 and HPS6 proteins as subunits. Fibroblasts deficient in the BLOC-2 subunits HPS3 or HPS6 have normal basal secretion function of the lysosomal enzyme beta-hexosaminidase [].This entry also includes HPS5 homologues from insects. Fruit fly HPS5 (also known as p) has a role in the biogenesis of eye pigment granules [,].
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Protein Coding Gene
MGI:2180307 | Hps5
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
25189619 | J:236210
First Author: Li K
Year: 2014
Journal: J Cell Sci
Title: HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Volume: 127
Issue: Pt 21
Pages: 4574-88
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Protein
A0A173M1J6
Organism: Mus musculus/domesticus
Length: 113  
Fragment?: false
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Publication
15030569 | -
First Author: Di Pietro SM
Year: 2004
Journal: Traffic
Title: Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Volume: 5
Issue: 4
Pages: 276-83
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Protein
Q3TU08
Organism: Mus musculus/domesticus
Length: 750  
Fragment?: true
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Protein
F6Q7C7
Organism: Mus musculus/domesticus
Length: 534  
Fragment?: true
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Protein
F6YT95
Organism: Mus musculus/domesticus
Length: 253  
Fragment?: true
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Publication
9714595 | -
First Author: Lloyd V
Year: 1998
Journal: Trends Cell Biol
Title: Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.
Volume: 8
Issue: 7
Pages: 257-9
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Publication
17632576 | -
First Author: Syrzycka M
Year: 2007
Journal: Genome
Title: The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene.
Volume: 50
Issue: 6
Pages: 548-56
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Publication
16837549 | J:114587
First Author: Di Pietro SM
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.
Volume: 17
Issue: 9
Pages: 4027-38
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Publication
17156100 | -
First Author: Falcón-Pérez JM
Year: 2007
Journal: Traffic
Title: The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
Volume: 8
Issue: 2
Pages: 154-68
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Publication
17365864 | -
First Author: Huizing M
Year: 2007
Journal: Platelets
Title: Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Volume: 18
Issue: 2
Pages: 150-7
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Protein
P59438
Organism: Mus musculus/domesticus
Length: 1126  
Fragment?: false
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Protein
Q6ZQ01
Organism: Mus musculus/domesticus
Length: 1060  
Fragment?: true
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Protein
Q640Q9
Organism: Mus musculus/domesticus
Length: 1093  
Fragment?: false
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Protein
A0A1B0GSK6
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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Protein
D3Z3L4
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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Protein
A0A1B0GRB1
Organism: Mus musculus/domesticus
Length: 204  
Fragment?: false
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Protein
D3YYJ4
Organism: Mus musculus/domesticus
Length: 202  
Fragment?: true
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Protein
E9Q3X4
Organism: Mus musculus/domesticus
Length: 1093  
Fragment?: false
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Publication
17182842 | J:124026
First Author: Setty SR
Year: 2007
Journal: Mol Biol Cell
Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Volume: 18
Issue: 3
Pages: 768-80
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Publication
- | J:108159
     
First Author: Gwynn B
Year: 2006
Journal: MGI Direct Data Submission
Title: ENU induced mutation at the ruby eye 2 locus
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Publication
23030338 | J:336411
First Author: Hirobe T
Year: 2012
Journal: Zoolog Sci
Title: A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes.
Volume: 29
Issue: 10
Pages: 652-61
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Publication
14718540 | J:267139
First Author: Gautam R
Year: 2004
Journal: J Biol Chem
Title: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Volume: 279
Issue: 13
Pages: 12935-42
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Protein Coding Gene
MGP_CAROLIEiJ_G0029769 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0032272 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0032251 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0032187 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0032263 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0031976 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2180307 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0032753 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0031304 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0031941 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0032098 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0032052 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0032179 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0032089 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0032770 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0031027 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0031424 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0012994 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0030867 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
- | J:135220
     
First Author: Blasius AL
Year: 2008
Journal: MGI Direct Data Submission
Title: Record for "dorian gray", updated 3rd of June, 2008
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Publication
- | J:216049
     
First Author: Reyna C
Year: 2014
Journal: MGI Direct Data Submission
Title: Mutagenetix entry for titan. Updated on December 18, 2014
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Publication
- | J:29156
First Author: Cook S
Year: 1995
Journal: Mouse Genome
Title: Spontaneous remutation (ru28J)
Volume: 93
Issue: 3
Pages: 862
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Publication
- | J:255198
     
First Author: Reyna C
Year: 2018
Journal: MGI Direct Data Submission
Title: Mutagenetix entry for smoky
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Publication
- | J:64446
 
First Author: Kelly E
Year: 1974
Journal: Mouse News Lett
Title: ru2r/sup> - ruby-eye-2r
Volume: 50
Pages: 52
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Publication
- | J:133272
     
First Author: Eidendchenk C
Year: 2008
Journal: MGI Direct Data Submission
Title: Toffee is an allele of Hps5, involved in lysosmal biogenesis
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Publication
21375698 | J:336412
First Author: Hirobe T
Year: 2011
Journal: Pigment Cell Melanoma Res
Title: How are proliferation and differentiation of melanocytes regulated?
Volume: 24
Issue: 3
Pages: 462-78
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Publication
- | J:15055
 
First Author: Dickie MM
Year: 1965
Journal: Mouse News Lett
Title: Haze
Volume: 32
Pages: 44
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Publication
- | J:13650
 
First Author: Russell ES
Year: 1974
Journal: Mouse News Lett
Title: [hz allele of mr.]
Volume: 50
Pages: 43
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Publication
- | J:15003
 
First Author: Bateman N
Year: 1957
Journal: Mouse News Lett
Title: Maroon - allele of silver?
Volume: 16
Pages: 7
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Publication
17248484 | J:4428
First Author: Eicher EM
Year: 1970
Journal: Genetics
Title: The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse.
Volume: 64
Issue: 3-4
Pages: 495-510
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Publication
- | J:20282
 
First Author: Lilly F
Year: 1966
Journal: Mouse News Lett
Title: The genetic basis of susceptibility and resistance of mice to the Gross and Friend leukemia viruses.
Volume: 34
Pages: 14
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Publication
- | J:13795
 
First Author: Davisson MT
Year: 1979
Journal: Mouse News Lett
Title: [Four-point backcross on Chr 7.]
Volume: 60
Pages: 50-1
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Publication
- | J:13708
 
First Author: Eicher EM
Year: 1977
Journal: Mouse News Lett
Title: hz and mr alleles of ru-2.
Volume: 56
Pages: 42
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Publication
3147150 | J:17926
First Author: Brion JP
Year: 1988
Journal: Brain Res Dev Brain Res
Title: Dendritic and axonal distribution of the microtubule-associated proteins MAP2 and tau in the cerebellum of the nervous mutant mouse.
Volume: 44
Issue: 2
Pages: 221-32
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Publication
3209850 | J:9531
First Author: Eppig JT
Year: 1988
Journal: J Hered
Title: Analysis of recombination in the centromere region of mouse chromosome 7 using ovarian teratoma and backcross methods.
Volume: 79
Issue: 6
Pages: 425-9
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Publication
- | J:20217
 
First Author: Eicher EM
Year: 1968
Journal: Mouse News Lett
Title: The fd translocation and ruby-eye-2
Volume: 39
Pages: 34
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Publication
- | J:20218
 
First Author: Eicher EM
Year: 1969
Journal: Mouse News Lett
Title: Research news: determination of the p - ru-2 distance in linkage group I
Volume: 40
Pages: 44-45
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Publication
2369371 | J:29748
First Author: Paigen B
Year: 1990
Journal: Arteriosclerosis
Title: Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function.
Volume: 10
Issue: 4
Pages: 648-52
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Publication
6776948 | J:6422
First Author: Novak EK
Year: 1980
Journal: Biochem Genet
Title: Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon.
Volume: 18
Issue: 5-6
Pages: 549-61
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Publication
- | J:1367
 
First Author: Handel MA
Year: 1992
Journal: Isozyme Bulletin
Title: Genetic approaches to analysis of LDH-C expression during spermatogenesis in the mouse
Volume: 25
Pages: 36 (Abstr.)
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Publication
22984402 | J:191882
First Author: Rachel RA
Year: 2012
Journal: PLoS One
Title: Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Volume: 7
Issue: 9
Pages: e42446
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Publication
3516713 | J:11990
First Author: McGarry MP
Year: 1986
Journal: Exp Hematol
Title: Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency.
Volume: 14
Issue: 4
Pages: 261-5
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Publication
19010779 | J:145883
First Author: Salazar G
Year: 2009
Journal: J Biol Chem
Title: Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
Volume: 284
Issue: 3
Pages: 1790-802
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Publication
12445206 | J:80751
First Author: Nguyen T
Year: 2002
Journal: J Invest Dermatol
Title: Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
Volume: 119
Issue: 5
Pages: 1156-64
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Publication
8601493 | J:29903
First Author: Russell LB
Year: 1995
Journal: Genetics
Title: Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse.
Volume: 141
Issue: 4
Pages: 1547-62
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Publication
7828830 | J:20796
First Author: Moore KJ
Year: 1994
Journal: Genetics
Title: The murine dilute suppressor gene encodes a cell autonomous suppressor.
Volume: 138
Issue: 2
Pages: 491-7
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Publication
12548288 | J:81444
First Author: Zhang Q
Year: 2003
Journal: Nat Genet
Title: Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Volume: 33
Issue: 2
Pages: 145-53
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Publication
6696991 | J:7327
First Author: Novak EK
Year: 1984
Journal: Blood
Title: Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
Volume: 63
Issue: 3
Pages: 536-44
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Publication
23247405 | J:320067
First Author: Bultema JJ
Year: 2013
Journal: Small GTPases
Title: Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles.
Volume: 4
Issue: 1
Pages: 16-21
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Publication
21045126 | J:166600
First Author: Blasius AL
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.
Volume: 107
Issue: 46
Pages: 19973-8
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Publication
2379821 | J:29467
First Author: Moore KJ
Year: 1990
Journal: Genetics
Title: Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.
Volume: 125
Issue: 2
Pages: 421-30
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Publication
11256068 | J:88013
First Author: Nadeau JH
Year: 2001
Journal: Nat Rev Genet
Title: Modifier genes in mice and humans.
Volume: 2
Issue: 3
Pages: 165-74
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Publication
9714600 | J:48443
First Author: Odorizzi G
Year: 1998
Journal: Trends Cell Biol
Title: The AP-3 complex: a coat of many colours.
Volume: 8
Issue: 7
Pages: 282-8
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Publication
- | J:78801
       
First Author: Silvers WK
Year: 1979
Title: The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction
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Publication
- | J:342607
       
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
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Publication
- | J:15839
       
First Author: International Committee on Standardized Genetic Nomenclature for Mice
Year: 1993
Title: Nomenclature rule change to delete hyphens and parentheses from mouse locus symbols
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Publication
10725249 | J:60984
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
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Publication
- | J:188991
     
First Author: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
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Publication
17967808 | J:152068
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
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Publication
- | J:155845
     
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
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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:211773
     
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
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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
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:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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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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