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

Autor: Rebecca R Bellone, Heather Holl, Vijayasaradhi Setaluri, Sulochana Devi, Nityanand Maddodi, Sheila Archer, Lynne Sandmeyer, Arne Ludwig, Daniel Foerster, Melanie Pruvost, Monika Reissmann, Ralf Bortfeldt, David L Adelson, Sim Lin Lim, Janelle Nelson, Bianca Haase, Martina Engensteiner, Tosso Leeb, George Forsyth, Michael J Mienaltowski, Padmanabhan Mahadevan, Michael Hofreiter, Johanna L A Paijmans, Gloria Gonzalez-Fortes, Bruce Grahn, Samantha A Brooks

Publikováno v: PLoS ONE, Vol 8, Iss 10, p e78280 (2013)

Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Recept

Externí odkaz: https://doaj.org/article/c2699b6c1968484089945773d564c3cb

Genetic investigation of equine recurrent uveitis in Appaloosa horses

Autor: Maura Mack, H. Rockwell, A. Dwyer, Bianca S. Bauer, Molly E. McCue, Rebecca R. Bellone, Lynne S. Sandmeyer, Samantha K. Beeson, Thomas R. Famula, Mary E. Lassaline, Sheila Archer

Publikováno v: Animal geneticsReferences. 51(1)

Equine recurrent uveitis (ERU) is characterized by intraocular inflammation that often leads to blindness in horses. Appaloosas are more likely than any other breed to develop insidious ERU, distinguished by low-grade chronic intraocular inflammation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42a867824e4d4f77da45eb482153984
https://pubmed.ncbi.nlm.nih.gov/31793009

Congenital stationary night blindness is associated with the leopard complex in the miniature horse

Autor: Bianca S. Bauer, Sheila Archer, George W. Forsyth, Janelle Nelson, Lynne S. Sandmeyer, Bruce H. Grahn, Rebecca R. Bellone

Publikováno v: Veterinary Ophthalmology. 15:18-22

Objective To determine if congenital stationary night blindness (CSNB) exists in the miniature horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the miniature horse is associated with three single nucleot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f0527deb1a047f40ba2b6031fec6f97
https://doi.org/10.1111/j.1463-5224.2011.00903.x

Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting

Autor: K. Brown, Sheila Archer, Julia Malvick, Maria Cecilia T. Penedo, Samantha A. Brooks, Rebecca R. Bellone, Heather M. Holl

Publikováno v: Animal genetics. 47(1)

Leopard complex spotting (LP), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique depigmentation patterns in the horse. Although the LP mutation allows for expression of the various patterns, other loci are resp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01841337360a97c64f6f0b5609ccf42d
https://pubmed.ncbi.nlm.nih.gov/26568529

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

Autor: Heather M. Holl, Rebecca R. Bellone, Michael Hofreiter, Monika Reissmann, Daniel W. G. Foerster, Martina Engensteiner, Lynne S. Sandmeyer, Samantha A. Brooks, Nityanand Maddodi, Sheila Archer, Padmanabhan Mahadevan, Bruce H. Grahn, Tosso Leeb, Sulochana Devi, Gloria Gonzalez-Fortes, Johanna L. A. Paijmans, Arne Ludwig, David L. Adelson, Janelle Nelson, Sim Lin Lim, Ralf H. Bortfeldt, Mélanie Pruvost, George W. Forsyth, Vijayasaradhi Setaluri, Michael J. Mienaltowski, Bianca Haase

Publikováno v: PloS one, vol 8, iss 10
Bellone, Rebecca R; Holl, Heather; Setaluri, Vijayasaradhi; Devi, Sulochana; Maddodi, Nityanand; Archer, Sheila; Sandmeyer, Lynne; Ludwig, Arne; Foerster, Daniel; Pruvost, Melanie; Reissmann, Monika; Bortfeldt, Ralf; Adelson, David L; Lim, Sim Lin; Nelson, Janelle; Haase, Bianca; Engensteiner, Martina; Leeb, Tosso; Forsyth, George; Mienaltowski, Michael J; ... (2013). Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS ONE, 8(10), e78280. Public Library of Science 10.1371/journal.pone.0078280
PLoS ONE
PLoS One
PLoS ONE, Vol 8, Iss 10, p e78280 (2013)

Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Recept

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb0d0699a98847e13f3fe05d04cf60d
https://escholarship.org/uc/item/4m1159xj