Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (Q34338971)

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31 December 2019

title

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5 (English)

1 reference

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Hermansky-Pudlak syndrome

31 December 2019

main subject

1 reference

4

1 reference

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31 December 2019

author name string

Marjan Huizing

1

1 reference

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31 December 2019

Richard Hess

2

1 reference

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31 December 2019

Heidi Dorward

3

1 reference

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31 December 2019

Amanda Helip-Wooley

5

1 reference

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31 December 2019

Robert Kleta

6

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31 December 2019

Muriel I Kaiser-Kupfer

7

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31 December 2019

James G White

8

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31 December 2019

William A Gahl

9

1 reference

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31 December 2019

publication date

1 September 2004

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31 December 2019

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31 December 2019

volume

5

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31 December 2019

page(s)

711-722

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31 December 2019

issue

9

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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

AP-3: an adaptor-like protein complex with ubiquitous expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0854.2004.00208.X