Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene (Q24677297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

main subject

oculocutaneous albinism

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

author name string

Manga P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

Kromberg JG

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

Box NF

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

Sturm RA

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

Jenkins T

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

language of work or name

English

0 references

publication date

1 November 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

number of pages

7

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

volume

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

1095-1101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

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"

7 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Molecular characterization of a human tyrosinase-related-protein-2 cDNA. Patterns of expression in melanocytic cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Dinucleotide repeat polymorphism at the D9S43 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Dinucleotide repeat polymorphism at the human tyrosinase gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

The mouse brown (b) locus protein has dopachrome tautomerase activity and is located in lysosomes in transfected fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Albinism in Nigeria with delineation of new recessive oculocutaneous type.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Red or rufous albinism in southern Africa

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

An ultrastructural study of melanocytes and melanosomes in the skin and hair bulbs of rufous albinos

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

A new enzymatic function in the melanogenic pathway. The 5,6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716031

Detection of a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 (TYRP) gene

28 November 2018

1 reference

12 December 2020

A distinctive pigment of the skin in New Guinea indigenes

1 reference

12 December 2020

Prevalence of albinism in the South African negro

1 reference

12 December 2020

Tyrosinase isoenzymes in mammalian melanocytes. 1. Biochemical characterization of two melanosomal tyrosinases from B16 mouse melanoma

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the human TYRP1 locus

1 reference

Crossref

https://api.crossref.org/works/10.1086/301603

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9345097 AND SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

9345097

1 reference