(Q24675211)

English

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"

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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" (English)

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oculocutaneous albinism

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based on heuristic

inferred from title

author name string

R E Boissy

1

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H Zhao

2

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W S Oetting

3

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L M Austin

4

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S C Wildenberg

5

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Y L Boissy

6

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Y Zhao

7

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R A Sturm

8

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V J Hearing

9

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R A King

10

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J J Nordlund

11

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language of work or name

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publication date

June 1996

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American Journal of Human Genetics

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58

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1145-56

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6

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

1 reference

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1 reference

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Nucleotide sequence of the cDNA encoding human tyrosinase-related protein

1 reference

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Human tyrosinase-like protein (TYRL) carboxy terminus: closer homology with the mouse protein than previously reported

1 reference

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1 reference

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Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

1 reference

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A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus

1 reference

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The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12

1 reference

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1 reference

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1 reference

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1 reference

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

1 reference

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African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1 reference

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1 reference

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1 reference

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Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization

1 reference

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

1 reference

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1 reference

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1 reference

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Molecular and developmental genetics of mouse coat color

1 reference

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Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis.

1 reference

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1 reference

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Regulation of tyrosinase in human melanocytes grown in culture

1 reference

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Visualization of acidic organelles in intact cells by electron microscopy

1 reference

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Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

1 reference

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

1 reference

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1 reference

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Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

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

1 reference

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1 reference

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Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus.

1 reference

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Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism

1 reference

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1 reference

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1 reference

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1 reference

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

1 reference

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Retroviral infection with human tyrosinase-related protein-1 (TRP-1) cDNA upregulates tyrosinase activity and melanin synthesis in a TRP-1-deficient melanoma cell line

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Segregation analysis of brown oculocutaneous albinism.

1 reference

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Specific identification of an authentic clone for mammalian tyrosinase.

1 reference

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1 reference

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Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915069

30 May 2018

Tyrosinases from two different loci are expressed by normal and by transformed melanocytes.

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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