Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
about
A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismBph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting.Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological functionInformatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function.A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).Networks and pathways in pigmentation, health, and disease.Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsIris phenotypes and pigment dispersion caused by genes influencing pigmentation.The small chemical vacuolin-1 alters the morphology of lysosomes without inhibiting Ca2+-regulated exocytosis.Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi SyndromeExpression and function of synaptotagmin VII in CTLsFlow cytometric findings in hemophagocytic lymphohistiocytosis.An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeRegulation of surfactant secretion in alveolar type II cells.Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome.Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndromeFIG4, Charcot-Marie-Tooth disease, and hypopigmentation: a role for phosphoinositides in melanosome biogenesis?Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.Regulation of secretory granule size by the precise generation and fusion of unit granulesThe yeast protein sorting pathway as an experimental model for lysosomal trafficking.Primary immunodeficiency diseases associated with neurologic manifestations.Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes.The endosomal proteome of macrophage and dendritic cells.Structure-function analysis of the BEACH protein LvsA.The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion.Four cases of Chédiak-Higashi syndrome.Rab36 regulates the spatial distribution of late endosomes and lysosomes through a similar mechanism to Rab34.The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).Chediak-Higashi syndrome and premature exfoliation of primary teeth.Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.
P2860
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P2860
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@ast
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@en
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@nl
type
label
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@ast
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@en
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@nl
prefLabel
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@ast
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@en
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@nl
P2093
P2860
P1476
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
@en
P2093
Diane McVey Ward
Jerry Kaplan
Shelly L Shiflett
P2860
P304
P356
10.1034/J.1600-0749.2002.02038.X
P577
2002-08-01T00:00:00Z