Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 (Q24536147)

2

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N Hagiwara

3

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J M Gardner

4

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M T Davisson

5

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R A King

6

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M H Brilliant

American Journal of Human Genetics

7

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language of work or name

English

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publication date

November 2001

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published in

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volume

69

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issue

5

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page(s)

981-8

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cites work

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene

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Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

24 March 2017

1 reference

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

24 March 2017

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Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

24 March 2017

1 reference

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Cloning of the cDNa for a Na /myo-inositol cotransporter, a hypertonicity stress protein

24 March 2017

1 reference

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

24 March 2017

1 reference

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Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online

24 March 2017

1 reference

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Human AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells

24 March 2017

1 reference

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High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex

24 March 2017

1 reference

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

24 March 2017

1 reference

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Living with water stress: evolution of osmolyte systems

24 March 2017

1 reference

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Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

7 April 2017

1 reference

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Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells

27 September 2017

1 reference

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The underwhite (uw) locus acts autonomously and reduces the production of melanin

27 September 2017

1 reference

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Sucrose transporters in plants: update on function and structure

27 September 2017

1 reference

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A new allelic series for the underwhite gene on mouse chromosome 15.

27 September 2017

1 reference

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Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member

27 September 2017

1 reference

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Homologous pigmentation mutations in human, mouse and other model organisms.

27 September 2017

1 reference

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A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

27 September 2017

1 reference

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Enzymatic control of pigmentation in mammals

27 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

27 September 2017

https://api.crossref.org/works/10.1086/324340

7 January 2021

inferred from DOI database lookup

A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

On beyond classic RACE (rapid amplification of cDNA ends).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

Melanin: A Two Edged Sword?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

The AtSUC1 sucrose carrier may represent the osmotic driving force for anther dehiscence and pollen tube growth in Arabidopsis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274374

Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11574907

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11574907

12 December 2020

inferred from PubMed ID database lookup

Deficiency of the gene B impairs differentiation of melanophores in the medaka fish, Oryzias latipes: fine structure studies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11574907

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/324340

1 reference

1 reference

1 reference

PubMed publication ID

11574907

1 reference