(Q33632286)

28 July 2017

title

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. (English)

1 reference

28 July 2017

8

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28 July 2017

Matt Wenham

1

1 reference

28 July 2017

Samantha Grieve

2

1 reference

28 July 2017

Michelle Cummins

3

1 reference

28 July 2017

Matthew L Jones

4

1 reference

28 July 2017

Sarah Booth

5

1 reference

28 July 2017

Rachel Kilner

6

1 reference

28 July 2017

Philip J Ancliff

7

1 reference

28 July 2017

Andrew D Mumford

9

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28 July 2017

publication date

13 August 2009

1 reference

28 July 2017

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28 July 2017

volume

95

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28 July 2017

issue

2

1 reference

28 July 2017

page(s)

333-337

1 reference

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Assembly and function of AP-3 complexes in cells expressing mutant subunits.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Lysosome-related organelles

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

A novel adaptor-related protein complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Reference curves for aggregation and ATP secretion to aid diagnose of platelet-based bleeding disorders: effect of inhibition of ADP and thromboxane A(2) pathways.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Platelet dense-granule secretion: the [3H]-5-HT secretion assay

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817039

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19679886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19679886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2009.012286

1 reference

28 July 2017

1 reference

28 July 2017

1 reference