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Search results 1 to 100 out of 125 for Hps1

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Category: Publication
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Type Details Score
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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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
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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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
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
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
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
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
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
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
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
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
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
- | J:27518
 
First Author: Sweet HO
Year: 1994
Journal: Mouse Genome
Title: Remutation - ep6J
Volume: 92
Pages: 672
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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
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
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
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
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
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
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
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
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
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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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
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
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
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
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
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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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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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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Publication
- | J:24189
 
First Author: Harris B
Year: 1994
Journal: Mouse Genome
Title: The map location of grey coat (grc) is confirmed on Chromosome 5
Volume: 92
Pages: 672
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Publication
- | J:23673
 
First Author: Eicher E
Year: 1973
Journal: Mouse News Lett
Title: Centromere position in Chromosome 19 - bm-ep-ru
Volume: 48
Pages: 35
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Publication
- | J:20273
 
First Author: Lane PW
Year: 1971
Journal: Mouse News Lett
Title: Linkage data: ru - ep - bm
Volume: 45
Pages: 29
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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
10441736 | J:56826
First Author: Herron BJ
Year: 1999
Journal: Mamm Genome
Title: Scraggly, a new hair loss mutation on mouse chromosome 19.
Volume: 10
Issue: 9
Pages: 864-9
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Publication
4436535 | J:5505
First Author: Lane PW
Year: 1974
Journal: J Hered
Title: Chromosome 19 of the house mouse.
Volume: 65
Issue: 5
Pages: 297-300
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Publication
7274657 | J:6570
First Author: Timms GP
Year: 1981
Journal: Genetics
Title: Genetics of aldehyde dehydrogenase isozymes in the mouse: evidence for multiple loci and localization of Ahd-2 on chromosome 19.
Volume: 97
Issue: 2
Pages: 327-36
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Publication
16249233 | J:103783
First Author: Falcón-Pérez JM
Year: 2005
Journal: J Cell Sci
Title: Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.
Volume: 118
Issue: Pt 22
Pages: 5243-55
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Publication
- | J:13904
 
First Author: Timms GP
Year: 1982
Journal: Mouse News Lett
Title: Cytoplasmic aldehyde dehydrogenase (Ahd-2 on Chromosome 19)
Volume: 66
Pages: 60
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Publication
- | J:20223
 
First Author: Timms GP
Year: 1981
Journal: Mouse News Lett
Title: Aldehyde dehydrogenase B4 (cytoplasmic isozyme)
Volume: 64
Pages: 55
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Publication
21052544 | J:166679
 
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
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Publication
22905720 | J:248378
 
First Author: Nedelko T
Year: 2012
Journal: BMC Genomics
Title: Distinct gene loci control the host response to influenza H1N1 virus infection in a time-dependent manner.
Volume: 13
Pages: 411
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Publication
5713631 | J:5109
First Author: Lane PW
Year: 1968
Journal: J Hered
Title: Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby.
Volume: 59
Issue: 5
Pages: 300-8
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Publication
8043950 | J:18648
First Author: O'Brien EP
Year: 1994
Journal: Mamm Genome
Title: Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm.
Volume: 5
Issue: 6
Pages: 356-60
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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
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
- | J:13528
 
First Author: Bailey DW
Year: 1972
Journal: Mouse News Lett
Title: Located histocompatibility genes.
Volume: 47
Pages: 18
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Publication
9107690 | J:39608
First Author: Wright A
Year: 1997
Journal: Mamm Genome
Title: Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru.
Volume: 8
Issue: 5
Pages: 377-8
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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
25917818 | J:222308
First Author: Fairfield H
Year: 2015
Journal: Genome Res
Title: Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Volume: 25
Issue: 7
Pages: 948-57
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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:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
- | J:265051
     
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
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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
- | J:72247
       
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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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
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
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