Detalhe da pesquisa
1.
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Nat Genet
; 30(3): 321-4, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11836498
2.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Nat Genet
; 35(1): 84-9, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12923531
3.
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Nat Genet
; 33(2): 145-53, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12548288
4.
Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes.
Traffic
; 10(9): 1350-61, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19566896
5.
Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
J Invest Dermatol
; 119(5): 1156-64, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12445206
6.
The Vps33a gene regulates behavior and cerebellar Purkinje cell number.
Brain Res
; 1266: 18-28, 2009 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19254700
7.
Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.
PLoS One
; 3(7): e2713, 2008 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18629000
8.
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
Blood
; 109(4): 1533-40, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17062724
9.
Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
Traffic
; 7(7): 779-92, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16787394
10.
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
Proc Natl Acad Sci U S A
; 102(31): 10964-9, 2005 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-16037214
11.
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
Blood
; 99(5): 1651-8, 2002 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11861280
12.
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.
Bioessays
; 26(6): 616-28, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15170859
13.
Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.
Am J Physiol Lung Cell Mol Physiol
; 285(3): L643-53, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12777251
14.
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.
Hum Mol Genet
; 11(6): 697-706, 2002 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11912185
15.
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
J Biol Chem
; 279(13): 12935-42, 2004 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-14718540
16.
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
Proc Natl Acad Sci U S A
; 100(3): 1146-50, 2003 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-12538872
17.
A role for Rab27b in NF-E2-dependent pathways of platelet formation.
Blood
; 102(12): 3970-9, 2003 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12907454
18.
Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse.
Br J Haematol
; 117(2): 414-23, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11972527
19.
The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background.
Blood
; 100(1): 128-35, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12070017
20.
Pulmonary pathologies in pallid mice result from nonhematopoietic defects.
Exp Mol Pathol
; 72(3): 213-20, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12009785