(Q24537423)

6 July 2017

Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. (English)

1 reference

6 July 2017

0 references

Leigh Anne Clark

1

1 reference

6 July 2017

Jacquelyn M Wahl

series ordinal

2

1 reference

6 July 2017

Christine A Rees

series ordinal

3

1 reference

6 July 2017

Keith E Murphy

series ordinal

4

1 reference

6 July 2017

language of work or name

English

0 references

publication date

9 January 2006

1 reference

Proceedings of the National Academy of Sciences of the United States of America

6 July 2017

1 reference

6 July 2017

103

1 reference

6 July 2017

1376-1381

1 reference

6 July 2017

5

1 reference

Pmel17 initiates premelanosome morphogenesis within multivesicular bodies

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Three cases of Waardenburg syndrome type 2 in a Korean family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Melanocytes and the microphthalmia transcription factor network

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Retrotransposon-derived elements in the mammalian genome: a potential source of disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Worldwide distribution of Waardenburg syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A 1-Mb resolution radiation hybrid map of the canine genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Active Alu element "A-tails": size does matter

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Human pigmentation genes: identification, structure and consequences of polymorphic variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

EDNRB/EDN3 and Hirschsprung disease type II.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Identification of a melanosomal matrix protein encoded by the murine si (silver) locus using "organelle scanning".

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Transposable elements controlling genetic instabilities in mammals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Heritable syndrome of skeletal defects in a family of Australian shepherd dogs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Ophthalmological findings in Merle dachshunds

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Audiometric findings in dachshunds (merle gene carriers)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Inheritance of the harlequin color in Great Dane dogs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A highly repetitive DNA sequence possibly unique to canids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

Characterization and subcellular localization of human Pmel 17/silver, a 110-kDa (pre)melanosomal membrane protein associated with 5,6,-dihydroxyindole-2-carboxylic acid (DHICA) converting activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

The dog genome: survey sequencing and comparative analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0506940103

The Pmel 17/silver locus protein. Characterization and investigation of its melanogenic function.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1360527

A SINE element in the canine D2 dopamine receptor gene and its chromosomal location

29 November 2018

1 reference

12 December 2020

Evaluation of a short interspersed nucleotide element in the 3' untranslated region of the defective dystrophin gene of dogs with muscular dystrophy.

1 reference

12 December 2020

[Tonometry in Merle dogs]

1 reference

12 December 2020

[Light microscopy studies of the cornea of Merle dachshunds]

1 reference

12 December 2020

Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog

1 reference

12 December 2020

Germinal reversion of the merle allele In Australian shepherd dogs

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0506940103

1 reference

6 July 2017

0 references

1 reference

6 July 2017

1 reference