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Search results 1 to 100 out of 140 for Hps4

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Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
89781 | HPS4
Type: gene
Organism: human
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Gene
615386 | HPS4
Type: gene
Organism: cattle
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Gene
393296 | hps4
Type: gene
Organism: zebrafish
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Gene
458723 | HPS4
Type: gene
Organism: chimpanzee
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Gene
712549 | HPS4
Type: gene
Organism: macaque, rhesus
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Gene
486330 | HPS4
Type: gene
Organism: dog, domestic
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Gene
416907 | HPS4
Type: gene
Organism: chicken
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Gene
779927 | hps4
Type: gene
Organism: frog, western clawed
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Protein Domain
IPR026091 | HPS4
Type: Family
Description: Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes []. HPS is common in Puerto Rico, where is mostly caused by mutations in the genes HPS1 or HPS3. Another HPS locus, HPS4 was identified by using mouse models []. It was suggested that HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis [].This family represents BLOC-3 complex member HPS4, a component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 [].
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Gene
304555 | Hps4
Type: gene
Organism: rat
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Protein Coding Gene
MGI:2177742 | Hps4
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
11836498 | J:75144
First Author: Suzuki T
Year: 2002
Journal: Nat Genet
Title: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Volume: 30
Issue: 3
Pages: 321-4
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Publication
8896559 | -
First Author: Oh J
Year: 1996
Journal: Nat Genet
Title: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Volume: 14
Issue: 3
Pages: 300-6
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Protein
Q99KG7
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Protein
Q3TAF8
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Protein
Q541V2
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: true
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Protein
Q6P568
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Publication
30837268 | J:278183
First Author: Ohishi Y
Year: 2019
Journal: J Biol Chem
Title: The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.
Volume: 294
Issue: 17
Pages: 6912-6922
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Publication
23084991 | -
First Author: Gerondopoulos A
Year: 2012
Journal: Curr Biol
Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
Volume: 22
Issue: 22
Pages: 2135-9
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Publication
12663659 | J:113973
First Author: Chiang PW
Year: 2003
Journal: J Biol Chem
Title: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
Volume: 278
Issue: 22
Pages: 20332-7
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Publication
12756248 | J:113925
First Author: Martina JA
Year: 2003
Journal: J Biol Chem
Title: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
Volume: 278
Issue: 31
Pages: 29376-84
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Publication
20048159 | J:235260
First Author: Kloer DP
Year: 2010
Journal: J Biol Chem
Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Volume: 285
Issue: 10
Pages: 7794-804
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Publication
12847290 | J:99881
First Author: Nazarian R
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Volume: 100
Issue: 15
Pages: 8770-5
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Protein Coding Gene
MGP_CAROLIEiJ_G0027564 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0029905 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0029871 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0029809 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0029882 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0029602 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2177742 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0030335 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0029010 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0029569 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0029719 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0029676 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0029807 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0029707 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0030376 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0028724 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0029086 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0024146 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0028562 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
6420496 | J:7307
First Author: Owen FL
Year: 1984
Journal: J Exp Med
Title: Genes for the mouse T cell alloantigens Tpre, Tthy, Tind, and Tsu are closely linked near Igh on chromosome 12.
Volume: 159
Issue: 1
Pages: 313-7
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Publication
7446708 | J:6444
First Author: Meisler M
Year: 1980
Journal: Am J Pathol
Title: Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism.
Volume: 101
Issue: 3
Pages: 581-93
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Publication
417081 | J:5967
First Author: Meisler MH
Year: 1978
Journal: J Biol Chem
Title: Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice.
Volume: 253
Issue: 9
Pages: 3129-34
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_09
Specimen Label: euxassay_006298_09
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_10
Specimen Label: euxassay_006298_10
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_11
Specimen Label: euxassay_006298_11
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_12
Specimen Label: euxassay_006298_12
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_13
Specimen Label: euxassay_006298_13
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_14
Specimen Label: euxassay_006298_14
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_15
Specimen Label: euxassay_006298_15
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_16
Specimen Label: euxassay_006298_16
Detected: true
Specimen Num: 8
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_17
Specimen Label: euxassay_006298_17
Detected: true
Specimen Num: 9
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_18
Specimen Label: euxassay_006298_18
Detected: true
Specimen Num: 10
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_19
Specimen Label: euxassay_006298_19
Detected: true
Specimen Num: 11
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_20
Specimen Label: euxassay_006298_20
Detected: true
Specimen Num: 12
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1703623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_21
Specimen Label: euxassay_006298_21
Detected: true
Specimen Num: 13
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_11
Specimen Label: euxassay_006298_11
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_14
Specimen Label: euxassay_006298_14
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
 
Probe: MGI:1983308
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1625523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825447
Age: embryonic day 14.5
Image: euxassay_006298_15
Specimen Label: euxassay_006298_15
Detected: true
Specimen Num: 7
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Publication
6232310 | J:7416
First Author: Meisler MH
Year: 1984
Journal: J Hered
Title: Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles.
Volume: 75
Issue: 2
Pages: 103-6
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Publication
21451038 | J:171202
First Author: Borowska J
Year: 2011
Journal: J Neurosci
Title: An intrinsic neural oscillator in the degenerating mouse retina.
Volume: 31
Issue: 13
Pages: 5000-12
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Publication
29145208 | J:281469
First Author: Wang Y
Year: 2017
Journal: Cell Physiol Biochem
Title: Curcumin Delays Retinal Degeneration by Regulating Microglia Activation in the Retina of rd1 Mice.
Volume: 44
Issue: 2
Pages: 479-493
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Publication
10739679 | J:61552
First Author: Delprato A
Year: 2000
Journal: Exp Cell Res
Title: An established light ear mutant (C57BL/6J-Pdeb(rd1) le) mouse cell line exhibits a block to secretion of lysosomal enzymes.
Volume: 256
Issue: 1
Pages: 315-20
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Publication
23174301 | J:320062
First Author: Marks MS
Year: 2012
Journal: Curr Biol
Title: Organelle biogenesis: en BLOC exchange for RAB32 and RAB38.
Volume: 22
Issue: 22
Pages: R963-5
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Publication
11872162 | J:75411
First Author: Yamamoto S
Year: 2002
Journal: J Biochem
Title: Molecular cloning and genomic analysis of mouse glucuronyltransferase involved in biosynthesis of the HNK-1 epitope.
Volume: 131
Issue: 3
Pages: 337-47
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Publication
- | J:172
 
First Author: Green MC
Year: 1965
Journal: Mouse News Lett
Title: Three point cross, le, W, Hm.
Volume: 32
Pages: 46
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Publication
24146540 | J:205341
 
First Author: Park H
Year: 2013
Journal: Mol Vis
Title: Retinal degeneration increases susceptibility to myopia in mice.
Volume: 19
Pages: 2068-79
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Publication
21985934 | J:184037
 
First Author: Morin LP
Year: 2011
Journal: Neuroscience
Title: Separation of function for classical and ganglion cell photoreceptors with respect to circadian rhythm entrainment and induction of photosomnolence.
Volume: 199
Pages: 213-24
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Publication
32703879 | J:297588
First Author: Chen M
Year: 2020
Journal: Science
Title: Itaconate is an effector of a Rab GTPase cell-autonomous host defense pathway against Salmonella.
Volume: 369
Issue: 6502
Pages: 450-455
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Publication
6031678 | J:5033
First Author: Lane PW
Year: 1967
Journal: J Hered
Title: Linkage groups 3 and XVII in the mouse and the position of the light-ear locus.
Volume: 58
Issue: 1
Pages: 21-4
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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
6031677 | J:5032
First Author: Lane PW
Year: 1967
Journal: J Hered
Title: Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII.
Volume: 58
Issue: 1
Pages: 17-20
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Publication
25477496 | J:221384
First Author: Meng R
Year: 2015
Journal: Blood
Title: Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
Volume: 125
Issue: 10
Pages: 1623-32
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Publication
22611153 | J:189024
First Author: Meng R
Year: 2012
Journal: Blood
Title: SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.
Volume: 120
Issue: 2
Pages: 404-14
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Publication
4595403 | J:5434
First Author: LaVail MM
Year: 1974
Journal: Arch Ophthalmol
Title: C57BL-6J mice with inherited retinal degeneration.
Volume: 91
Issue: 5
Pages: 394-400
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Publication
- | J:13686
 
First Author: Chapman VM
Year: 1975
Journal: Mouse News Lett
Title: Alb-1
Volume: 53
Pages: 61
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Publication
26620560 | J:230050
First Author: Marubashi S
Year: 2016
Journal: J Biol Chem
Title: RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes.
Volume: 291
Issue: 3
Pages: 1427-40
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Publication
15265785 | J:94897
First Author: Gwynn B
Year: 2004
Journal: Blood
Title: Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Volume: 104
Issue: 10
Pages: 3181-9
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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
18629000 | J:139279
First Author: Chan WT
Year: 2008
Journal: PLoS One
Title: Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.
Volume: 3
Issue: 7
Pages: e2713
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Publication
35864246 | J:339479
First Author: Schuster EM
Year: 2022
Journal: Nat Metab
Title: TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages.
Volume: 4
Issue: 7
Pages: 856-866
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Publication
6980940 | J:6835
First Author: Schlagel CJ
Year: 1982
Journal: J Immunol
Title: Evidence for genetic control of microwave-induced augmentation of complement receptor-bearing B lymphocytes.
Volume: 129
Issue: 4
Pages: 1530-3
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Publication
2787378 | J:9889
First Author: Patarca R
Year: 1989
Journal: J Exp Med
Title: Structural and functional studies of the early T lymphocyte activation 1 (Eta-1) gene. Definition of a novel T cell-dependent response associated with genetic resistance to bacterial infection.
Volume: 170
Issue: 1
Pages: 145-61
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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
10193444 | J:53228
First Author: McGarry MP
Year: 1999
Journal: Proc Soc Exp Biol Med
Title: Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Volume: 220
Issue: 3
Pages: 162-8
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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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First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
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