(Q34454090)

2 August 2017

title

An intracellular anion channel critical for pigmentation (English)

1 reference

2 August 2017

Nicholas W Bellono

1

1 reference

2 August 2017

Iliana E Escobar

2

1 reference

2 August 2017

Ariel J Lefkovith

3

1 reference

2 August 2017

Michael S Marks

4

1 reference

2 August 2017

Elena Oancea

5

1 reference

2 August 2017

language of work or name

English

0 references

publication date

16 December 2014

1 reference

2 August 2017

1 reference

2 August 2017

volume

3

1 reference

2 August 2017

page(s)

e04543

1 reference

Ion transport in pigmentation

2 August 2017

cites work

1 reference

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6 July 2018

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6 July 2018

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6 July 2018

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TRPM1 forms ion channels associated with melanin content in melanocytes

6 July 2018

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Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function

6 July 2018

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The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

6 July 2018

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

6 July 2018

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6 July 2018

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A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

6 July 2018

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

6 July 2018

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BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles

6 July 2018

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Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism

6 July 2018

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Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression

6 July 2018

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The small chemical vacuolin-1 inhibits Ca(2+)-dependent lysosomal exocytosis but not cell resealing

6 July 2018

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P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome

6 July 2018

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MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270065

Pink-eyed dilution protein controls the processing of tyrosinase.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270065

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

6 July 2018

1 reference

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Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells.

6 July 2018

1 reference

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

6 July 2018

1 reference

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Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells

6 July 2018

1 reference

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Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

6 July 2018

1 reference

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A cytoplasmic sequence in human tyrosinase defines a second class of di-leucine-based sorting signals for late endosomal and lysosomal delivery

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene

6 July 2018

1 reference

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Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

6 July 2018

1 reference

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Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)

6 July 2018

1 reference

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

6 July 2018

1 reference

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Correction of defective early tyrosinase processing by bafilomycin A1 and monensin in pink-eyed dilution melanocytes

6 July 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

The ocular albinism type 1 (OA1) gene controls melanosome maturation and size

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

Abnormal acidification of melanoma cells induces tyrosinase retention in the early secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

p16(Ink4a) in melanocyte senescence and differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.04543

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270065

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25513726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in a putative chloride efflux transporter gene suppress the chloride requirement of photosystem II in the cytochrome c550-deficient mutant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25513726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Luminal chloride-dependent activation of endosome calcium channels: patch clamp study of enlarged endosomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25513726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.7554/ELIFE.04543

1 reference

2 August 2017

1 reference

2 August 2017

1 reference