Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome (Q28243405)

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7 February 2020

title

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome (English)

1 reference

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7 February 2020

main subject

gray platelet syndrome

1 reference

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7 February 2020

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7 February 2020

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7 February 2020

Walter H A Kahr

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7 February 2020

Jesse Hinckley

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7 February 2020

Ling Li

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7 February 2020

Hansjörg Schwertz

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7 February 2020

Hilary Christensen

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7 February 2020

Jesse W Rowley

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7 February 2020

Denisa Urban

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7 February 2020

Shay Fabbro

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7 February 2020

Brie Nixon

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7 February 2020

Rick Gadzinski

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7 February 2020

Mike Storck

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7 February 2020

Kai Wang

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7 February 2020

Gi-Yung Ryu

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7 February 2020

Shawn M Jobe

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7 February 2020

Brian C Schutte

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7 February 2020

Jack Moseley

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7 February 2020

Noeleen B Loughran

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7 February 2020

Jorge Di Paola

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language of work or name

English

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publication date

17 July 2011

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7 February 2020

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volume

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7 February 2020

issue

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7 February 2020

page(s)

738-740

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The gray platelet syndrome: clinical spectrum of the disease

7 February 2020

cites work

1 reference

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

21 April 2017

1 reference

The WD repeat: a common architecture for diverse functions

21 April 2017

1 reference

Bph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting

21 April 2017

1 reference

Membrane recognition by phospholipid-binding domains

21 April 2017

1 reference

Genome-wide RNA-seq analysis of human and mouse platelet transcriptomes.

21 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

A perfect message: RNA surveillance and nonsense-mediated decay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

28 July 2018

Chediak-Higashi syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6050511

21 January 2018

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

27 November 2018

1 reference

The BEACH protein LvsB is localized on lysosomes and postlysosomes and limits their fusion with early endosomes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG.884

1 reference

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7 February 2020

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7 February 2020

PubMed publication ID

21765413

1 reference

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