(Q33853623)

29 July 2017

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

1 reference

29 July 2017

Chediak-Higashi syndrome

1 reference

9

A Fischer

0 references

Stephen F Kingsmore

14

object named as

S F Kingsmore

1 reference

29 July 2017

M D Barbosa

1

1 reference

29 July 2017

F J Barrat

2

1 reference

29 July 2017

V T Tchernev

3

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29 July 2017

Q A Nguyen

4

1 reference

29 July 2017

V S Mishra

5

1 reference

29 July 2017

S D Colman

6

1 reference

29 July 2017

E Pastural

7

1 reference

29 July 2017

R Dufourcq-Lagelouse

8

1 reference

29 July 2017

R F Holcombe

10

1 reference

29 July 2017

M R Wallace

11

1 reference

29 July 2017

S J Brandt

12

1 reference

29 July 2017

G de Saint Basile

13

1 reference

29 July 2017

1 July 1997

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29 July 2017

Human Molecular Genetics

1 reference

29 July 2017

6

1 reference

29 July 2017

7

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29 July 2017

1091-1098

1 reference

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

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Oncoprotein 18 is a phosphorylation-responsive regulator of microtubule dynamics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Identification of the homologous beige and Chediak-Higashi syndrome genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Complex alternative RNA processing generates an unexpected diversity of poly(A) polymerase isoforms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Extensive alternative splicing and dual promoter usage generate Tcf-1 protein isoforms with differential transcription control properties

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Identification of alternative splicing form of Stat2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

The 2.0 A crystal structure of a heterotrimeric G protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

A comprehensive set of sequence analysis programs for the VAX

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Defective Granulocyte Regulation in the Chediak–Higashi Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

A platelet serotonin anomaly in the Chediak-Higashi syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Tubular lysosome morphology and distribution within macrophages depend on the integrity of cytoplasmic microtubules

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Translocation and clustering of endosomes and lysosomes depends on microtubules

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Basic local alignment search tool

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Stathmin: a relay phosphoprotein for multiple signal transduction?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Radial movement of lysosomes along microtubules in permeabilized macrophages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Concanavalin A cap formation on polymorphonuclear leukocytes of normal and beige (Chediak-Higashi) mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Secretory lysosomes - a special mechanism of regulated secretion in haemopoietic cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Positional cloning of the Chediak-Higashi syndrome gene: genetic mapping of the beige locus on mouse chromosome 13

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Identification of a protein that interacts with tubulin dimers and increases the catastrophe rate of microtubules

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Analysis of the in vitro translation product of a novel-type Drosophila melanogaster aldolase mRNA in which two carboxyl-terminal exons remain unspliced.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

The Rab Protein Family: Genetic Mapping of Six Rab Genes in the Mouse

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871070

Peripheral neuropathy in the Chediak-Higashi syndrome

29 October 2018

1 reference

12 December 2020

Chédiak-Higashi syndrome. Neurologic appearance

1 reference

12 December 2020

Ultrasensitive staining of nucleic acids with silver

1 reference

12 December 2020

Microtubule-depolymerizing agents inhibit asialo-orosomucoid delivery to lysosomes but not its endocytosis or degradation in isolated rat hepatocytes

1 reference

12 December 2020

Physical mapping of the beige critical region on mouse Chromosome 13

1 reference

12 December 2020

The Chediak-Higashi Syndrome: Studies of Host Defenses

1 reference

12 December 2020

Further studies of natural killer cell function in Chediak-Higashi patients

1 reference

12 December 2020

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

1 reference

12 December 2020

A case report of Chediak-Higashi syndrome complicated with systemic amyloidosis and olivo-cerebellar degeneration

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/6.7.1091

1 reference

29 July 2017

1 reference

29 July 2017

1 reference