(Q33697361)

28 July 2017

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title

Multi-organellar disorders of pigmentation: tied up in traffic (English)

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28 July 2017

1

Spritz RA

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28 July 2017

publication date

1 May 1999

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28 July 2017

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28 July 2017

volume

55

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28 July 2017

issue

5

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28 July 2017

page(s)

309-317

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Genetic defects in Chediak-Higashi syndrome and the beige mouse

28 July 2017

cites work

1 reference

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Endocytosis and molecular sorting

21 January 2018

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Clathrin-coated vesicle formation and protein sorting: an integrated process

21 January 2018

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The trans-Golgi network: a late secretory sorting station

21 January 2018

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Linking cargo to vesicle formation: receptor tail interactions with coat proteins.

21 January 2018

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Coats and vesicle budding

21 January 2018

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AP-3: an adaptor-like protein complex with ubiquitous expression

21 January 2018

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Characterization of the adaptor-related protein complex, AP-3

21 January 2018

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The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins.

21 January 2018

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Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

21 January 2018

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Hermansky-Pudlak syndrome with granulomatous colitis

21 January 2018

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Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

21 January 2018

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The platelet defect associated with albumism.

21 January 2018

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Hermansky-Pudlak syndrome in a Swiss population

21 January 2018

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Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

21 January 2018

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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

21 January 2018

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Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

21 January 2018

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Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

21 January 2018

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Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations

21 January 2018

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HPS gene mutations in Hermansky-Pudlak syndrome

21 January 2018

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Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

21 January 2018

1 reference

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

21 January 2018

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The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

21 January 2018

1 reference

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The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes

21 January 2018

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Chediak-Higashi gene in humans. I. Impairment of natural - killer function

21 January 2018

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Chédiak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function

21 January 2018

1 reference

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Deficiency of active natural killer cells in the Chediak-Higashi syndrome. Localization of the defect using a single cell cytotoxicity assay

21 January 2018

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The familial histiocytoses

21 January 2018

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A syndrome associating partial albinism and immunodeficiency

21 January 2018

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Abnormal Platelet Function in Chediak-Higashi Syndrome

21 January 2018

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Giant platelet granules in a child with the chediak-higashi syndrome

21 January 2018

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The Chediak-Higashi Syndrome and the Homologous Trait in Animals

21 January 2018

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Distribution of anomalous lysosomes in the beige mouse: a homologue of Chediak-Higashi syndrome

21 January 2018

1 reference

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Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.

21 January 2018

1 reference

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Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

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Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

21 January 2018

1 reference

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Identification of the murine beige gene by YAC complementation and positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

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Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse

21 January 2018

1 reference

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The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein

21 January 2018

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Griscelli disease with cerebral involvement

21 January 2018

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Novel myosin heavy chain encoded by murine dilute coat colour locus

21 January 2018

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Direct interaction of microtubule- and actin-based transport motors

21 January 2018

1 reference

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

1 reference

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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

21 January 2018

1 reference

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Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

21 January 2018

1 reference

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A new immunodeficiency disorder in humans involving NK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Genetics, development, and malignancy of melanocytes.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Mechanisms of protein sorting and coat assembly: insights from the clathrin-coated vesicle pathway

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Hermansky-Pudlak syndrome (HPS). An epidemiologic study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Hermansky-Pudlak syndrome: a clinicopathologic study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Chédiak and Higashi's Disease. Probable Identity of “A New Leucocytal Anomaly (Chédiak)” and “Congenital Gigantism of Peroxidase Granules (Higashi)”

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Peripheral neuropathy in the Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

A human pigmentary dilution based on a heritable subcellular structural defect--the Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

The storage pool deficiency in platelets from humans with the Chédiak-Higashi syndrome: study of six patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Chediak-Higashi syndrome in rats: light and electron microscopical characterization of abnormal granules in beige rats

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Giant granules in leukocytes of the beige mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Linkage of loci associated with two pigment mutations on mouse chromosome 13

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

A kindred with Griscelli disease: spectrum of neurological involvement

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Partial albinism with immunodeficiency (Griscelli syndrome)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

Griscelli syndrome: report of three cases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550503.X

7 January 2021

10.1034/J.1399-0004.1999.550503.X

Identifiers

DOI

1 reference

28 July 2017

1 reference