Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. (Q53624773)

16 May 2018

title

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. (English)

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16 May 2018

Hermansky-Pudlak syndrome

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Esther B Bachli

1

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16 May 2018

Thomas Brack

2

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16 May 2018

Elisabeth Eppler

3

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16 May 2018

Thomas Stallmach

4

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16 May 2018

Ralph M Trüeb

5

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16 May 2018

Marjan Huizing

6

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16 May 2018

William A Gahl

7

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16 May 2018

language of work or name

English

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publication date

1 June 2004

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16 May 2018

American Journal of Medical Genetics

published in

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volume

127A

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issue

2

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16 May 2018

page(s)

201-207

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16 May 2018

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

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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

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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

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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

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Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

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

21 January 2018

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Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

21 January 2018

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Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds

21 January 2018

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

21 January 2018

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

21 January 2018

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Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

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

21 January 2018

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

21 January 2018

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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/10.1002%2FAJMG.A.20683

Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

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/10.1002%2FAJMG.A.20683

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

21 January 2018

1 reference

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The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

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/10.1002%2FAJMG.A.20683

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20683

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.20683

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20683

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20683

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16 May 2018

PubMed ID

15108212

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16 May 2018