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Search results 1 to 100 out of 131 for Hps4

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0.077s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Drosophila melanogaster
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Domain
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 [].
Publication
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
Publication
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
Publication
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
Publication
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
Protein
Organism: Mus musculus
Length: 671  
Fragment?: false
Protein
Organism: Mus musculus
Length: 671  
Fragment?: false
Protein
Organism: Mus musculus
Length: 671  
Fragment?: false
Protein
Organism: Mus musculus
Length: 671  
Fragment?: true
Publication
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
Publication
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
Publication
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
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
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
Publication
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
Publication
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
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
Detected: true
Specimen Num: 1
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
Detected: true
Specimen Num: 2
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
Detected: true
Specimen Num: 3
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
Detected: true
Specimen Num: 4
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
Detected: true
Specimen Num: 5
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
Detected: true
Specimen Num: 6
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
Detected: true
Specimen Num: 7
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
Detected: true
Specimen Num: 8
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
Detected: true
Specimen Num: 9
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
Detected: true
Specimen Num: 10
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
Detected: true
Specimen Num: 11
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
Detected: true
Specimen Num: 12
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
Detected: true
Specimen Num: 13
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
Detected: true
Specimen Num: 3
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
Detected: true
Specimen Num: 6
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
Detected: true
Specimen Num: 7
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication  
First Author: Green MC
Year: 1965
Journal: Mouse News Lett
Title: Three point cross, le, W, Hm.
Volume: 32
Pages: 46
Publication  
First Author: Park H
Year: 2013
Journal: Mol Vis
Title: Retinal degeneration increases susceptibility to myopia in mice.
Volume: 19
Pages: 2068-79
Publication  
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
First Author: LaVail MM
Year: 1974
Journal: Arch Ophthalmol
Title: C57BL-6J mice with inherited retinal degeneration.
Volume: 91
Issue: 5
Pages: 394-400
Publication  
First Author: Chapman VM
Year: 1975
Journal: Mouse News Lett
Title: Alb-1
Volume: 53
Pages: 61
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
First Author: Wergedal JE
Year: 2007
Journal: J Lipid Res
Title: Mapping genetic loci that regulate lipid levels in a NZB/B1NJxRF/J intercross and a combined intercross involving NZB/B1NJ, RF/J, MRL/MpJ, and SJL/J mouse strains.
Volume: 48
Issue: 8
Pages: 1724-34
Publication
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
Publication
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
Publication        
First Author: Silvers WK
Year: 1979
Title: The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction
Publication
First Author: Okazaki N
Year: 2003
Journal: DNA Res
Title: Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
Volume: 10
Issue: 4
Pages: 167-80
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
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
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication          
First Author: MGD Nomenclature Committee
Year: 1995
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62