A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) (Q24300085)

6 July 2017

0 references

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) (English)

1 reference

Biogenesis of lysosomal organelles complex 1 subunit 3

6 July 2017

main subject

1 reference

GOA release 2020-03-11

pigmentation

1 reference

Hermansky-Pudlak syndrome

GOA release 2020-03-11

1 reference

1

0 references

Richard C Trembath

8

0 references

Steve P. Watson

10

0 references

Eamonn R Maher

11

object named as

Eamonn R Maher

1 reference

6 July 2017

Shanaz Pasha

2

1 reference

6 July 2017

Colin A Johnson

3

1 reference

6 July 2017

John R Ainsworth

4

1 reference

6 July 2017

Robin A J Eady

5

1 reference

6 July 2017

Ban Dawood

6

1 reference

6 July 2017

Carole McKeown

7

1 reference

6 July 2017

Jonathan Wilde

9

1 reference

6 July 2017

language of work or name

English

0 references

publication date

28 November 2005

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

78

1 reference

6 July 2017

issue

1

1 reference

6 July 2017

page(s)

160-166

1 reference

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

6 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=1380215

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

The building BLOC(k)s of lysosomes and related organelles

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Hermansky-Pudlak syndrome with granulomatous colitis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Adhesion of human and mouse platelets to collagen under shear: a unifying model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Complementary roles of glycoprotein VI and alpha2beta1 integrin in collagen-induced thrombus formation in flowing whole blood ex vivo

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Signalling events underlying platelet aggregation induced by the glycoprotein VI agonist convulxin

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380215

Mouse models of Hermansky Pudlak syndrome: a review

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16385460

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16385460

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/499338

1 reference

6 July 2017

1 reference

6 July 2017

1 reference