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Search results 1 to 100 out of 246 for Hps1

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Hits by Pathway

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Hits by Strain

Type Details Score
Gene
3257 | HPS1
Type: gene
Organism: human
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Gene
515531 | HPS1
Type: gene
Organism: cattle
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Gene
450663 | HPS1
Type: gene
Organism: chimpanzee
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Gene
477791 | HPS1
Type: gene
Organism: dog, domestic
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Gene
563067 | hps1
Type: gene
Organism: zebrafish
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Gene
100425623 | HPS1
Type: gene
Organism: macaque, rhesus
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Gene
448750 | hps1
Type: gene
Organism: frog, western clawed
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Gene
280819 | HPS1
Type: gene
Organism: cattle
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Protein Domain
IPR026053 | HPS1
Type: Family
Description: Defects in human HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes [, ].Human HPS1 is a transmembrane protein 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
114638 | Hps1
Type: gene
Organism: rat
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Gene
429879 | HPS1
Type: gene
Organism: chicken
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Protein Coding Gene
MGI:2177763 | Hps1
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein
Q5FWJ4
Organism: Mus musculus/domesticus
Length: 634  
Fragment?: false
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Protein
Q80VD7
Organism: Mus musculus/domesticus
Length: 634  
Fragment?: true
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Publication
9497254 | -
First Author: Oh J
Year: 1998
Journal: Am J Hum Genet
Title: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Volume: 62
Issue: 3
Pages: 593-8
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Gene
101927278 | HPS1-AS1
Type: gene
Organism: human
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Publication
33224134 | J:308216
 
First Author: Yu J
Year: 2020
Journal: Front Immunol
Title: HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
Volume: 11
Pages: 560110
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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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Publication
25160823 | J:230208
 
First Author: Jing R
Year: 2014
Journal: Exp Eye Res
Title: The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.
Volume: 128
Pages: 57-66
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Protein
O08983
Organism: Mus musculus/domesticus
Length: 704  
Fragment?: false
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Protein
Q3U309
Organism: Mus musculus/domesticus
Length: 712  
Fragment?: false
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Protein
E9Q045
Organism: Mus musculus/domesticus
Length: 635  
Fragment?: false
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Protein
Q8CD56
Organism: Mus musculus/domesticus
Length: 635  
Fragment?: false
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Protein
E9PYL0
Organism: Mus musculus/domesticus
Length: 627  
Fragment?: false
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Protein
Q3TBI2
Organism: Mus musculus/domesticus
Length: 703  
Fragment?: false
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Protein
A0A0R4J062
Organism: Mus musculus/domesticus
Length: 704  
Fragment?: false
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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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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
11861280 | J:109721
First Author: Feng L
Year: 2002
Journal: Blood
Title: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
Volume: 99
Issue: 5
Pages: 1651-8
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Publication
30786955 | J:287084
First Author: Jing R
Year: 2019
Journal: Reprod Fertil Dev
Title: Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.
Volume: 31
Issue: 5
Pages: 972-982
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Publication
16547274 | J:129894
First Author: Young LR
Year: 2006
Journal: J Immunol
Title: Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.
Volume: 176
Issue: 7
Pages: 4361-8
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Publication
12777251 | J:85431
First Author: Lyerla TA
Year: 2003
Journal: Am J Physiol Lung Cell Mol Physiol
Title: Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.
Volume: 285
Issue: 3
Pages: L643-53
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Publication
17363777 | J:137563
First Author: Young LR
Year: 2007
Journal: Am J Respir Cell Mol Biol
Title: Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.
Volume: 37
Issue: 1
Pages: 67-74
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Publication
26719147 | J:232653
First Author: Ahuja S
Year: 2016
Journal: Am J Physiol Lung Cell Mol Physiol
Title: MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
Volume: 310
Issue: 6
Pages: L519-31
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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
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
27889498 | J:323313
First Author: Ma J
Year: 2016
Journal: J Genet Genomics
Title: BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.
Volume: 43
Issue: 12
Pages: 686-693
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Publication
3922995 | J:7869
First Author: Brown JA
Year: 1985
Journal: J Cell Biol
Title: Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways.
Volume: 100
Issue: 6
Pages: 1894-904
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Publication
7448413 | J:6448
First Author: Novak EK
Year: 1981
Journal: Blood
Title: The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency.
Volume: 57
Issue: 1
Pages: 38-43
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Publication
- | J:27518
 
First Author: Sweet HO
Year: 1994
Journal: Mouse Genome
Title: Remutation - ep6J
Volume: 92
Pages: 672
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Publication
17068483 | J:117715
First Author: Nguyen T
Year: 2007
Journal: J Invest Dermatol
Title: Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.
Volume: 127
Issue: 2
Pages: 421-8
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Publication
8557335 | J:30323
First Author: Murray HW
Year: 1996
Journal: Infect Immun
Title: Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection.
Volume: 64
Issue: 1
Pages: 161-6
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Publication
24361037 | J:210372
 
First Author: Jing R
Year: 2014
Journal: Exp Eye Res
Title: Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.
Volume: 119
Pages: 35-43
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Publication
9158155 | J:40195
First Author: Feng GH
Year: 1997
Journal: Hum Mol Genet
Title: Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
Volume: 6
Issue: 5
Pages: 793-7
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Publication
15790974 | J:110954
First Author: Guttentag SH
Year: 2005
Journal: Am J Respir Cell Mol Biol
Title: Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome.
Volume: 33
Issue: 1
Pages: 14-21
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Publication
9256466 | J:42484
First Author: Gardner JM
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Volume: 94
Issue: 17
Pages: 9238-43
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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
7835879 | J:20807
First Author: Keller SA
Year: 1994
Journal: Genomics
Title: Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.
Volume: 23
Issue: 2
Pages: 309-20
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Publication
29427412 | J:258853
First Author: Zhou Y
Year: 2018
Journal: J Immunol
Title: Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.
Volume: 200
Issue: 6
Pages: 2140-2153
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Publication
31272455 | J:286751
First Author: Summer R
Year: 2019
Journal: Orphanet J Rare Dis
Title: Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.
Volume: 14
Issue: 1
Pages: 162
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Publication
15743322 | J:110157
First Author: Tang X
Year: 2005
Journal: Pathol Int
Title: Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation.
Volume: 55
Issue: 3
Pages: 137-43
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Publication
30710063 | J:294251
 
First Author: Ma J
Year: 2019
Journal: Biosci Rep
Title: Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.
Volume: 39
Issue: 2
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Publication
115747 | J:6219
First Author: Novak EK
Year: 1979
Journal: Genetics
Title: Lysosomal dysfunctions associated with mutations at mouse pigment genes.
Volume: 92
Issue: 1
Pages: 189-204
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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
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
7089489 | J:6801
First Author: Orn A
Year: 1982
Journal: Scand J Immunol
Title: Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity.
Volume: 15
Issue: 3
Pages: 305-10
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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
23364476 | J:198009
First Author: Wei AH
Year: 2013
Journal: J Invest Dermatol
Title: Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Volume: 133
Issue: 7
Pages: 1834-40
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Publication
26121745 | J:225844
First Author: Zhou Y
Year: 2015
Journal: J Clin Invest
Title: Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.
Volume: 125
Issue: 8
Pages: 3178-92
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Publication
29074498 | J:259065
First Author: Truman-Rosentsvit M
Year: 2018
Journal: Blood
Title: Ferritin is secreted via 2 distinct nonclassical vesicular pathways.
Volume: 131
Issue: 3
Pages: 342-352
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Publication
102659 | J:6064
First Author: LaVail JH
Year: 1978
Journal: J Comp Neurol
Title: Genetic control of retinal ganglion cell projections.
Volume: 182
Issue: 3
Pages: 399-421
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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
29190429 | J:274815
First Author: Kook S
Year: 2018
Journal: Am J Respir Cell Mol Biol
Title: Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.
Volume: 58
Issue: 5
Pages: 566-574
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Publication
11041359 | J:103794
 
First Author: Swank RT
Year: 2000
Journal: Pigment Cell Res
Title: Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
Volume: 13 Suppl 8
Pages: 59-67
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Publication
33513603 | J:323340
First Author: Yuan Y
Year: 2021
Journal: Blood
Title: A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Volume: 137
Issue: 13
Pages: 1804-1817
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Publication
23043085 | J:240992
First Author: Young LR
Year: 2012
Journal: Am J Respir Crit Care Med
Title: The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.
Volume: 186
Issue: 10
Pages: 1014-24
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Publication
19155314 | J:144973
First Author: Xie T
Year: 2009
Journal: Cancer Res
Title: Multidrug resistance decreases with mutations of melanosomal regulatory genes.
Volume: 69
Issue: 3
Pages: 992-9
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Publication
16760431 | J:114481
First Author: Salazar G
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.
Volume: 17
Issue: 9
Pages: 4014-26
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Publication
15702992 | J:105404
First Author: Bossi G
Year: 2005
Journal: Traffic
Title: Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.
Volume: 6
Issue: 3
Pages: 243-51
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Protein Coding Gene
MGP_CAROLIEiJ_G0022977 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0025149 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0025126 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0025094 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0025120 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0024880 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2177763 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0025563 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0024345 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0024860 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0024992 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0024953 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0025078 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0024984 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0025621 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0024094 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0024415 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0014467 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0023898 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
- | J:198843
     
First Author: Harris BS
Year: 2013
Journal: MGI Direct Data Submission
Title: pale ear 7 Jackson, a spontaneous mutation in Hps1ep 7J arising on the CAST/EiJ background
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Publication
11353395 | J:69828
First Author: Oh J
Year: 2001
Journal: Mamm Genome
Title: Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
Volume: 12
Issue: 6
Pages: 466-8
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Publication
9256409 | J:42865
First Author: Erickson RP
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: Pigment, platelets, and Hermansky-Pudlak in human and mouse.
Volume: 94
Issue: 17
Pages: 8924-5
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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
27777976 | J:291717
First Author: Young LR
Year: 2016
Journal: JCI Insight
Title: Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome.
Volume: 1
Issue: 17
Pages: e88947
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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
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
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
18715234 | J:141035
First Author: Anderson MG
Year: 2008
Journal: Pigment Cell Melanoma Res
Title: Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
Volume: 21
Issue: 5
Pages: 565-78
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Publication
5297683 | J:5022
First Author: Deol MS
Year: 1966
Journal: J Embryol Exp Morphol
Title: A new gene affecting the morphogenesis of the vestibular part of the inner ear in the mouse.
Volume: 16
Issue: 3
Pages: 543-58
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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
6971254 | J:6485
First Author: Clark EA
Year: 1981
Journal: Immunogenetics
Title: Mutations in mice that influence natural killer (NK) cell activity.
Volume: 12
Issue: 5-6
Pages: 601-13
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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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