(Q34346234)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

Jose P Oliveira-Filho

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Henrique N. Oliveira

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

6

Franklin Riet-Correa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Maria Cecília Florisbal Damé

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Gildenor Medeiros Xavier

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Alexandre Secorun Borges

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Ana Lucia Schild

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

20 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Complex interactions of Tyrp1 in the eye

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

The nonsense-mediated decay RNA surveillance pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Nonsense-mediated mRNA decay in mammals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

A Tyrosinase missense mutation causes albinism in the Wistar rat

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Genetics of pigmentary disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Genetic insights into the clinical diversity of beta thalassaemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Nonsense-mediated mRNA decay in health and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

OA1 mutations and deletions in X-linked ocular albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Hereditary suprabasilar acantholytic mechanobullous dermatosis in buffaloes (Bubalus bubalis).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-62

Tyrosinase gene variants in different rabbit strains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-62

A form of albinism in cattle is caused by a tyrosinase frameshift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-62

Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-62

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-62

Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-deltaGACTGG817) at a copper-binding site of the tyrosinase gene

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411452

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

27 October 2018

1 reference

12 December 2020

P gene mutations associated with oculocutaneous albinism type II (OCA2)

1 reference

12 December 2020

Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo)

1 reference

12 December 2020

Mammalian tyrosinase; preparation and properties

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-13-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

22817390

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22817390%20AND%20SRC:MED&resulttype=core&format=json