(Q33916390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

Hermansky-Pudlak syndrome

9 November 2019

main subject

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

T Horikawa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Araki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Fukai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Ueda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Ueda

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Ichihashi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

3

1 reference

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9 November 2019

page(s)

635-640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

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

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.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.1365-2133.2000.03725.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.1365-2133.2000.03725.X

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/10.1111%2FJ.1365-2133.2000.03725.X

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Chemical characterization of hair melanins in various coat-color mutants of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.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.1365-2133.2000.03725.X

Biological role of tyrosinase related protein and its biosynthesis and transport from TGN to stage I melanosome, late endosome, through gene transfection study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Comparative analysis of melanins and melanosomes produced by various coat color mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

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/10.1111%2FJ.1365-2133.2000.03725.X

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Molecular basis of congenital hypopigmentary disorders in humans: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Melanocyte growth factor in normal human skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Effective elimination of fibroblasts in cultures of melanocytes by lowering calcium concentration in TPA depleted medium following geneticin treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Chemical Characterization of Melanins in Sheep Wool and Human Hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

Mouse models of Hermansky Pudlak syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03725.X

10.1111/J.1365-2133.2000.03725.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971344%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference