(Q41734814)

8 October 2017

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title

Genetic defects in Chediak-Higashi syndrome and the beige mouse (English)

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8 October 2017

main subject

Chediak-Higashi syndrome

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1

Spritz RA

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8 October 2017

publication date

1 March 1998

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Journal of Clinical Immunology

8 October 2017

published in

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8 October 2017

volume

18

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8 October 2017

issue

2

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8 October 2017

page(s)

97-105

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https://scigraph.springernature.com/pub.10.1023/a:1023247215374

8 October 2017

exact match

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cites work

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Low natural in vivo resistance to syngeneic leukaemias in natural killer-deficient mice

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Melanosomes are specialized members of the lysosomal lineage of organelles.

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Giant granules in leukocytes of the beige mouse

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

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Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice

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

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

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Defective Granulocyte Regulation in the Chediak–Higashi Syndrome

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Defective granulocyte chemotaxis in the Chediak-Higashi syndrome

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The Chediak-Higashi syndrome: a possible lysosomal disease

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Turnover of kidney beta-glucuronidase in normal and Chédiak-Higashi (beige) mice

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A histochemical and electron microscopic study of skeletal muscle in an adult case of Chédiak-Higashi syndrome

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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

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Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature.

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Chédiak-Higashi disease (report on a new case) (author's transl)

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12 December 2020

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein

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12 December 2020

Lymphotoxin (LT) production by lymphocytes from children with primary immunedeficiency disease

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

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CHEDIAK-HIGASHI SYNDROME

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

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12 December 2020

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

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Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

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12 December 2020

The Chediak-Higashi syndrome: studies in four patients and a review of the literature

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Partial engraftment of donor bone marrow cells associated with long-term remission of haemophagocytic lymphohistiocytosis

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Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy

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Adaptive immune defects and delayed rejection of allogeneic tumor cells in beige mice

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Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marrow transplantation

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

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

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12 December 2020

Role of NK cells in tumour growth and metastasis in beige mice

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12 December 2020

STUDIES OF ABNORMAL LEUKOCYTE BODIES IN THE MINK

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12 December 2020

Abnormal Platelet Function in Chediak-Higashi Syndrome

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12 December 2020

[New leukocyte anomaly of constitutional and familial character]

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12 December 2020

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

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12 December 2020

Prenatal diagnosis of Chediak-Higashi syndrome

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12 December 2020

Granulocyte function in the Chediak-Higashi syndrome of mice

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12 December 2020

Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome

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12 December 2020

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The Chediak-Higashi Syndrome: Studies of Host Defenses

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12 December 2020

A new class of lysosomal/vacuolar protein sorting signals

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12 December 2020

T-cell lymphoma and the Chediak-Higashi syndrome

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12 December 2020

Chédiak-Higashi syndrome in a Venezuelan black child

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12 December 2020

Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes

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12 December 2020

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

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12 December 2020

Correction of Leukocyte Function in Chediak-Higashi Syndrome by Ascorbate

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12 December 2020

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

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12 December 2020

Defective T-cell response in beige mutant mice

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12 December 2020

Pigmentary changes in Chediak-Higashi syndrome. Microscopic study of 12 homozygous and heterozygous subjects

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12 December 2020

Defects of leukocyte locomotion and chemotaxis: prospects, assays, and lessons from Chediak-Higashi neutrophils

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12 December 2020

A syndrome associating partial albinism and immunodeficiency

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12 December 2020

Chediak-Higashi syndrome: description of a cluster in a Venezuelan-Andean isolated region

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12 December 2020

Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis

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12 December 2020

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

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12 December 2020

Efficacy of ascorbic acid in Chediak-Higashi syndrome (CHS): studies in humans and mice

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12 December 2020

Identification of the homologous beige and Chediak-Higashi syndrome genes

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12 December 2020

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

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12 December 2020

Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases.

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12 December 2020

A new immunodeficiency disorder in humans involving NK cells

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12 December 2020

Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles

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12 December 2020

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12 December 2020

A membrane-associated complex containing the Vps15 protein kinase and the Vps34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The familial histiocytoses

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12 December 2020

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

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12 December 2020

A genetic and structural analysis of the yeast Vps15 protein kinase: evidence for a direct role of Vps15p in vacuolar protein delivery

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12 December 2020

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

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12 December 2020

Gamma-delta T cells in Chediak-Higashi syndrome

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12 December 2020

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

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12 December 2020

The ancient regulatory-protein family of WD-repeat proteins

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12 December 2020

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

1 reference

12 December 2020

Platelet function in the Chediak-Higashi syndrome

1 reference

12 December 2020

THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1023247215374

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Dimensions Publication ID

8 October 2017

1049870533

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