(Q35027899)

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Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse

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Europe PubMed Central

PubMed publication ID

5 August 2017

Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse (English)

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Europe PubMed Central

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5 August 2017

congenital disorder

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congenital stationary night blindness

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Michael Hofreiter

22

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3 June 2020

Samantha A Brooks

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3 June 2020

David L. Adelson

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3 June 2020

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Johanna L.A. Paijmans

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Gloria González-Fortes

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3 June 2020

Rebecca Bellone

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Rebecca R Bellone

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Heather Holl

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3 June 2020

Vijayasaradhi Setaluri

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Sulochana Devi

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Nityanand Maddodi

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Sheila Archer

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Lynne Sandmeyer

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Arne Ludwig

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Daniel Foerster

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3 June 2020

Melanie Pruvost

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3 June 2020

Monika Reissmann

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3 June 2020

Ralf Bortfeldt

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3 June 2020

Sim Lin Lim

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3 June 2020

Janelle Nelson

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3 June 2020

Bianca Haase

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3 June 2020

Martina Engensteiner

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3 June 2020

George Forsyth

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3 June 2020

Michael J Mienaltowski

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3 June 2020

Padmanabhan Mahadevan

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3 June 2020

Bruce Grahn

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3 June 2020

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22 October 2013

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5 August 2017

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3 June 2020

8

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3 June 2020

10

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3 June 2020

e78280

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3 June 2020

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Creative Commons Attribution 4.0 International

22 October 2013

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April 2022 Public Data File from Crossref

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0 references

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3805535

8 July 2018

Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3805535

8 July 2018

Endogenous retroviruses function as species-specific enhancer elements in the placenta

1 reference

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8 July 2018

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

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8 July 2018

Target enrichment via DNA hybridization capture

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8 July 2018

Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art

1 reference

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8 July 2018

Ultrastructural localization and expression of TRPM1 in the human retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3805535

8 July 2018

TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3805535

8 July 2018

LINE-1 elements in structural variation and disease

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8 July 2018

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites

1 reference

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8 July 2018

A rapid column-based ancient DNA extraction method for increased sample throughput

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8 July 2018

Intronic miR-211 assumes the tumor suppressive function of its host gene in melanoma.

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8 July 2018

The regulation of miRNA-211 expression and its role in melanoma cell invasiveness

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8 July 2018

Pleiotropic effects of pigmentation genes in horses

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8 July 2018

TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function.

1 reference

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8 July 2018

TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells

1 reference

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8 July 2018

Illumina sequencing library preparation for highly multiplexed target capture and sequencing

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8 July 2018

TRPM1 mutations are associated with the complete form of congenital stationary night blindness

1 reference

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8 July 2018

FastTree 2--approximately maximum-likelihood trees for large alignments

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8 July 2018

Key roles for transforming growth factor beta in melanocyte stem cell maintenance

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8 July 2018

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

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8 July 2018

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

1 reference

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8 July 2018

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

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8 July 2018

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

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8 July 2018

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3805535

8 July 2018

Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light

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8 July 2018

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8 July 2018

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8 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

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8 July 2018

A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.

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8 July 2018

TRPM1 forms ion channels associated with melanin content in melanocytes

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8 July 2018

ESG: extended similarity group method for automated protein function prediction

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8 July 2018

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8 July 2018

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

1 reference

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8 July 2018

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

1 reference

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8 July 2018

Exonization of the LTR transposable elements in human genome

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8 July 2018

Congenital stationary night blindness in a Thoroughbred and a Paso Fino

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8 July 2018

Transcription of two human genes from a bidirectional endogenous retrovirus promoter

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8 July 2018

MUSCLE: multiple sequence alignment with high accuracy and high throughput

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8 July 2018

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

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

The inheritance of the leopard complex of spotting patterns in horses

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8 July 2018

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=3805535

8 July 2018

Association analysis of candidate SNPs in TRPM1 with leopard complex spotting (LP ) and congenital stationary night blindness (CSNB) in horses

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078280

21 January 2018

Profound defects in pupillary responses to light in TRPM-channel null mice: a role for TRPM channels in non-image-forming photoreception.

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21 January 2018

Retroviral promoters in the human genome

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078280

21 January 2018

Cutadapt removes adapter sequences from high-throughput sequencing reads

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21 January 2018

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse

1 reference

https://pubmed.ncbi.nlm.nih.gov/24167615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses

1 reference

https://pubmed.ncbi.nlm.nih.gov/24167615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/24167615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0078280

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167615%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

2013PLoSO...878280B

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167615%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167615%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

ResearchGate publication ID

0 references

Sitelinks

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