(Q73314500)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients (English)

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

oculocutaneous albinism type 2

27 December 2023

main subject

oculocutaneous albinism

1 reference

based on heuristic

inferred from title

1 reference

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

27 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

27 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

27 December 2023

author name string

Tamio Suzuki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Yoshinori Miyamura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Jun Matsunaga

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Hiroshi Shimizu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Yasuhiro Kawachi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Naoko Ohyama

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Osamu Ishikawa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Tomoyuki Ishikawa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Hiroshi Terao

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Yasushi Tomita

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

3 November 2019

http://www.jidonline.org/article/S0022202X15302426/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12713581

https://api.elsevier.com/content/article/PII:S0022202X15302426?httpAccept=text/plain

27 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

https://api.elsevier.com/content/article/PII:S0022202X15302426?httpAccept=text/xml

27 December 2023

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Journal of Investigative Dermatology

27 December 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

781-783

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12713581%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1046/j.1523-1747.2003.12127.x

3 November 2019

exact match

0 references

cites work

Transfer of proteins across membranes. I. Presence of proteolytically processed and unprocessed nascent immunoglobulin light chains on membrane-bound ribosomes of murine myeloma

1

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH

27 December 2023

2

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

27 December 2023

4

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

27 December 2023

5

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Organization and sequence of the human P gene and identification of a new family of transport proteins

27 December 2023

6

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1

27 December 2023

7

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes

27 December 2023

10

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

27 December 2023

11

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine

27 December 2023

12

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

27 December 2023

13

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Molecular genetics of oculocutaneous albinism

27 December 2023

15

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

27 December 2023

16

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.

27 December 2023

18

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences

27 December 2023

20

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan

27 December 2023

21

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

27 December 2023

22

1 reference

https://api.crossref.org/works/10.1046/J.1523-1747.2003.12127.X