A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation (Q73662723)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10759101%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10759101%20AND%20SRC:MED&resulttype=core&format=json

Hermansky-Pudlak syndrome

5 November 2019

main subject

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1

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5 November 2019

Juan S. Bonifacino

4

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5 November 2019

author name string

E C Dell'Angelica

2

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5 November 2019

L Hartnell

3

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5 November 2019

W A Gahl

5

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5 November 2019

publication date

1 April 2000

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American Journal of Medicine

5 November 2019

published in

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5 November 2019

volume

108

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5 November 2019

issue

5

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5 November 2019

page(s)

423-427

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

5 November 2019

cites work

1 reference

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The Hermansky-Pudlak syndrome: inclusions in circulating leucocytes

7 January 2021

1 reference

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Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: an ultrastructural study

7 January 2021

1 reference

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Hermansky-Pudlak syndrome with granulomatous colitis

7 January 2021

1 reference

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Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

7 January 2021

1 reference

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

7 January 2021

1 reference

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Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

1 reference

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Mouse models of Hermansky Pudlak syndrome: a review

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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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

7 January 2021

1 reference

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Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

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The Hermansky–Pudlak Syndrome

7 January 2021

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Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

7 January 2021

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Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

7 January 2021

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Partial albinism with immunodeficiency (Griscelli syndrome)

7 January 2021

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A syndrome associating partial albinism and immunodeficiency

7 January 2021

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The storage pool deficiency in platelets from humans with the Chédiak-Higashi syndrome: study of six patients

7 January 2021

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Defective Granulocyte Regulation in the Chediak–Higashi Syndrome

7 January 2021

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Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

7 January 2021

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The AP-3 complex: a coat of many colours

7 January 2021

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Melanosomes are specialized members of the lysosomal lineage of organelles.

7 January 2021

1 reference

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Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

7 January 2021

1 reference

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Hermansky-Pudlak syndrome: models for intracellular vesicle formation

7 January 2021

1 reference

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10.1016/S0002-9343(99)00436-2

7 January 2021

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10759101%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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