Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype (Q82346436)

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15 January 2020

title

Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype (English)

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Hermansky-Pudlak syndrome

15 January 2020

main subject

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2

Martha Quezado

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15 January 2020

author name string

Nadeem Hussain

1

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15 January 2020

Marjan Huizing

3

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15 January 2020

David Geho

4

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15 January 2020

James G White

5

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15 January 2020

William Gahl

6

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15 January 2020

Peter Mannon

7

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15 January 2020

publication date

1 January 2006

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Clinical Gastroenterology and Hepatology

15 January 2020

published in

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15 January 2020

volume

4

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15 January 2020

issue

1

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15 January 2020

page(s)

73-80

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Hermansky-Pudlak syndrome: models for intracellular vesicle formation

15 January 2020

cites work

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7 January 2021

Hermansky-Pudlak syndrome and related disorders of organelle formation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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.

1 reference

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7 January 2021

Hermansky-Pudlak syndrome with granulomatous colitis

1 reference

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7 January 2021

Hermansky-Pudlak syndrome with granulomatous colitis in children

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7 January 2021

Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis

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7 January 2021

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Electron dense chains and clusters in human platelets

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7 January 2021

Use of the electron microscope for diagnosis of platelet disorders

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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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https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

1 reference

https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

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7 January 2021

A novel adaptor-related protein complex

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7 January 2021

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

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https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1542-3565(05)00858-X

7 January 2021

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

1 reference

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7 January 2021

Clinical epidemiology of inflammatory bowel disease: Incidence, prevalence, and environmental influences

1 reference

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7 January 2021

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

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7 January 2021

10.1016/S1542-3565(05)00858-X

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16431308 AND SRC:MED&resulttype=core&format=json

15 January 2020

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