Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) (Q24644487)

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English	Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)	scientific article

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scholarly article

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Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) (English)

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congenital disorder

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night blindness

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based on heuristic

inferred from title

congenital stationary night blindness

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based on heuristic

inferred from title

author name string

Rebecca R Bellone

1

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Samantha A Brooks

2

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Lynne Sandmeyer

3

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Barbara A Murphy

4

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George Forsyth

5

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Sheila Archer

6

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Ernest Bailey

7

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Bruce Grahn

8

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language of work or name

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publication date

August 2008

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179

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1861-70

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4

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Allelic heterogeneity at the equine KIT locus in dominant white (W) horses

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7 April 2017

p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness

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7 April 2017

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

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A missense mutation in PMEL17 is associated with the Silver coat color in the horse

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7 April 2017

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

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7 April 2017

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

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7 April 2017

A mutation in the MATP gene causes the cream coat colour in the horse

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7 April 2017

Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform

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A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

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7 April 2017

Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex

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7 April 2017

CSNB1 in Chinese families associated with novel mutations in NYX

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7 April 2017

Exon skipping in the KIT gene causes a Sabino spotting pattern in horses

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7 April 2017

Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1

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The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation

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A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease

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7 April 2017

A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses

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7 April 2017

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

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7 April 2017

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

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7 April 2017

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

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7 April 2017

Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.

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Signaling pathways influencing SLF and c-kit-mediated survival and proliferation

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27 September 2017

Mouse coat color mutations: from fancy mice to functional genomics

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27 September 2017

Evidence of an oscillating peripheral clock in an equine fibroblast cell line and adipose tissue but not in peripheral blood.

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27 September 2017

Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression

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27 September 2017

Transient receptor potential ion channels and animal sensation: lessons from Drosophila functional research

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27 September 2017

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27 September 2017

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

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27 September 2017

The TRP ion channel family.

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27 September 2017

Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus).

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516064

27 September 2017

Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis

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27 September 2017

Protection from apoptosis by steel factor but not interleukin-3 is reversed through blockade of calcium influx

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27 September 2017

Fibronectin mRNA splice variant in articular cartilage lacks bases encoding the V, III-15, and I-10 protein segments

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27 September 2017

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27 September 2017

A cell-specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number-related expression in transgenic mice

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27 September 2017

Congenital stationary night blindness: an animal model

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516064

27 September 2017

Human melastatin 1 (TRPM1) is regulated by MITF and produces multiple polypeptide isoforms in melanocytes and melanoma.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516064

30 May 2018

The inheritance of the leopard complex of spotting patterns in horses

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2516064

30 May 2018

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30 May 2018

Analysis of a SNP in exon 7 of equine OCA2 and its exclusion as a cause for appaloosa spotting.

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28 November 2018

Flash electroretinography in standing horses using the DTL microfiber electrode

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28 November 2018

Expression and Up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.

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28 November 2018

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A distal tyrosinase upstream element stimulates gene expression in neural-crest-derived melanocytes of transgenic mice: position-independent and mosaic expression

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[Analysis of the human electroretinogram]

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https://pubmed.ncbi.nlm.nih.gov/18660533

12 December 2020

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Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization

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https://pubmed.ncbi.nlm.nih.gov/18660533

12 December 2020

based on heuristic

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TRP channels in disease

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https://pubmed.ncbi.nlm.nih.gov/18660533

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Predicting adaptive evolution

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Identifiers

10.1534/GENETICS.108.088807

1 reference

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OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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