{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:46:36Z","timestamp":1760240796476,"version":"build-2065373602"},"reference-count":15,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T00:00:00Z","timestamp":1567641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH Center for Advancing Translational Sciences","award":["L40 TR001136"],"award-info":[{"award-number":["L40 TR001136"]}]},{"DOI":"10.13039\/100016749","name":"UC Davis Center for Equine Health","doi-asserted-by":"publisher","award":["2018"],"award-info":[{"award-number":["2018"]}],"id":[{"id":"10.13039\/100016749","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Equine neuroaxonal dystrophy\/equine degenerative myeloencephalopathy (eNAD\/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C &gt; T) within adhesion G protein-coupled receptor L3 (ADGRL3) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD\/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD\/EDM confirmed cases and genotype at any of the four identified SNPs (P &gt; 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic P = 0.85). These findings suggest that the four SNPs, including the missense variant in the ADGRL3 region, are not associated with risk for eNAD\/EDM across multiple breeds of horses.<\/jats:p>","DOI":"10.3390\/genes10090681","type":"journal-article","created":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T02:59:22Z","timestamp":1567738762000},"page":"681","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds"],"prefix":"10.3390","volume":"10","author":[{"given":"Sabin A.","family":"Marquardt","sequence":"first","affiliation":[{"name":"Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Callie V.","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8007-6552","authenticated-orcid":false,"given":"Erin N.","family":"Burns","sequence":"additional","affiliation":[{"name":"Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janel A.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5924-0234","authenticated-orcid":false,"given":"Carrie J.","family":"Finno","sequence":"additional","affiliation":[{"name":"Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,9,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1939-1676.1987.tb01985.x","article-title":"Equine Degenerative Myeloencephalopathy: A Vitamin E Deficiency that May be Familial","volume":"1","author":"Mayhew","year":"1987","journal-title":"J. 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