Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease (Q35718958)

9 August 2017

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease (English)

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Hermansky-Pudlak syndrome

9 August 2017

1 reference

1 reference

based on heuristic

inferred from title

author name string

Bernadette R Gochuico

1

1 reference

9 August 2017

Marjan Huizing

2

1 reference

9 August 2017

Gretchen A Golas

3

1 reference

9 August 2017

Charles D Scher

4

1 reference

9 August 2017

Maria Tsokos

5

1 reference

9 August 2017

Stacey D Denver

6

1 reference

9 August 2017

Melissa J Frei-Jones

7

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9 August 2017

William A Gahl

8

1 reference

9 August 2017

language of work or name

English

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publication date

10 February 2012

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9 August 2017

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9 August 2017

18

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9 August 2017

56-64

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Creative Commons Attribution 4.0 International

9 August 2017

start time

12 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.2119/molmed.2011.00198

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cites work

Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Bleomycin and IL-1beta-mediated pulmonary fibrosis is IL-17A dependent

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Detection of pulmonary complications in common variable immunodeficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

AP-3-dependent trafficking and disease: the first decade

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

ATS workshop proceedings: exhaled nitric oxide and nitric oxide oxidative metabolism in exhaled breath condensate

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Standardisation of the measurement of lung volumes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Standardisation of spirometry

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Herpesvirus DNA is consistently detected in lungs of patients with idiopathic pulmonary fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Transforming growth factor type beta: rapid induction of fibrosis and angiogenesis in vivo and stimulation of collagen formation in vitro

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269640

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

15 November 2018

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

[Pulmonary fibrosis in Hermansky-Pudlak syndrome is not fully usual]

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

Novel mutation causing Hermansky-Pudlak Syndrome Type 2

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

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

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation

31 March 2020

1 reference

https://api.crossref.org/works/10.2119%2FMOLMED.2011.00198

10.2119/MOLMED.2011.00198

31 March 2020

Identifiers

DOI

1 reference

Dimensions Publication ID

9 August 2017

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9 August 2017

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