Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles (Q34722897)

4 August 2017

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title

Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles (English)

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4 August 2017

Chediak-Higashi syndrome

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Shelly L Shiflett

1

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4 August 2017

Jerry Kaplan

series ordinal

2

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4 August 2017

Diane McVey Ward

series ordinal

3

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4 August 2017

language of work or name

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1 August 2002

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Pigment Cell & Melanoma Research

4 August 2017

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4 August 2017

15

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4 August 2017

4

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4 August 2017

251-257

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Genetic defects in Chediak-Higashi syndrome and the beige mouse

4 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

The Ocular Pigmentary Disturbance of Human Chédiak-Higashi Syndrome: A Comparative Light- and Electron-microscopic Study and Review of the Literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Regulated secretion from hemopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Reported causes of death of captive killer whales (Orcinus orca).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

A repeating amino acid motif shared by proteins with diverse cellular roles

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Comparison of ARM and HEAT protein repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Perilipins, ADRP, and other proteins that associate with intracellular neutral lipid droplets in animal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Quantitative analysis of TIP47-receptor cytoplasmic domain interactions: implications for endosome-to-trans Golgi network trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Molecular characterization of a novel A kinase anchor protein from Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

The Dictyostelium LvsA protein is localized on the contractile vacuole and is required for osmoregulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

A gain-of-function screen for genes controlling motor axon guidance and synaptogenesis in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Letter: Microtubular defect in Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Normal and abnormal secretion by haemopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

The melanosome: membrane dynamics in black and white

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

Analysis of the lysosomal storage disease Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.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.1600-0749.2002.02038.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.1600-0749.2002.02038.X

7 January 2021

Secretable Storage Pools in Platelets

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Molecular basis for functional disorders of phagocytes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Disorders of phagocyte function

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Allogeneic bone marrow transplantation in Chédiak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Neuropathological changes in Chédiak-Higashi disease.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Cytoplasmic inclusions in Chediak-Higashi and Wobbler mink. An electron microscopic study of the nervous system.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Complementation analysis of Chediak-Higashi Syndrome: The same gene may be responsible for the defect in all patients and species

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Giant granules in leukocytes of the beige mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

HEAT repeats in the Huntington's disease protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Correction of Leukocyte Function in Chediak-Higashi Syndrome by Ascorbate

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Impaired Microtubule Assembly and Polymorphonuclear Leucocyte Function in the Chediak-Higashi Syndrome Correctable by Ascorbic Acid

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Mast cell abnormalities in the Chédiak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Defective cytoplasmic granule formation.II. Differences in patterns of radiolabeling of secretory granules in beige versus normal mouse pancreatic acinar cells after [3H]glycine administration in vivo

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Neutrophil granule constituents and their release in health and disease.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Rapid down-regulation of protein kinase C in (Chediak-Higashi syndrome) beige mouse by phorbol ester

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beige mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice--a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Alteration of e sphingolipid content in leucocytes from patients with Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Alteration of Sphingolipid Metabolism in Leukocytes from Patients with the Chediak–Higashi Syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Fluidity properties and liquid composition of erythrocyte membranes in Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2002.02038.X

7 January 2021

10.1034/J.1600-0749.2002.02038.X

Identifiers

DOI

1 reference

4 August 2017

1 reference