{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:11:43Z","timestamp":1789953103973,"version":"4.0.1"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes\u00a07 and 27 in the equine genome. Whole genome sequencing of two affected horses, two obligate carriers, and 75 control horses from other breeds revealed a single nonsynonymous genetic variant on the chromosome\u00a07 segment that was perfectly associated with NFS. The affected horses were homozygous for ST14:c.388G&amp;gt;T, a nonsense variant that truncates &amp;gt;80% of the open reading frame of the ST14 gene (p.Glu130*). The variant leads to partial nonsense-mediated decay of the mutant transcript. Genetic variants in the ST14 gene are responsible for autosomal recessive congenital ichthyosis 11 in humans. Thus, the identified equine ST14:c.388G&amp;gt;T variant is an excellent candidate causative variant for NFS, and the affected horses represent a large animal model for a known human genodermatosis. Our findings will enable genetic testing to avoid the nonintentional breeding of NFS-affected foals.<\/jats:p>","DOI":"10.1534\/g3.117.039511","type":"journal-article","created":{"date-parts":[[2017,2,25]],"date-time":"2017-02-25T02:20:21Z","timestamp":1487989221000},"page":"1315-1321","source":"Crossref","is-referenced-by-count":17,"title":["A Nonsense Variant in the <i>ST14<\/i> Gene in Akhal-Teke Horses with Naked Foal Syndrome"],"prefix":"10.1093","volume":"7","author":[{"given":"Anina","family":"Bauer","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Swiss Competence Center of Animal Breeding and Genetics, Bern University of Applied Sciences HAFL & Agroscope, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Hiemesch","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"},{"name":"Institute of Animal Breeding and Genetics, University of G\u00f6ttingen, 37075, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Swiss Competence Center of Animal Breeding and Genetics, Bern University of Applied Sciences HAFL & Agroscope, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Neuditschko","sequence":"additional","affiliation":[{"name":"Swiss Competence Center of Animal Breeding and Genetics, Bern University of 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Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Mikko","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Cecilia","family":"Penedo","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadja","family":"Tarasova","sequence":"additional","affiliation":[{"name":"Russian Akhal-Teke Association, 115470 Moscow, Russia"},{"name":"International Akhal-Teke Association, 115470 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Vitkov\u00e1","sequence":"additional","affiliation":[{"name":"Equine Veterinary Practice, 91601 Star\u00e1 Tur\u00e1, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol\u00f2","family":"Sirtori","sequence":"additional","affiliation":[{"name":"Equine Veterinary Practice, 29010 Agazzano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Roccabianca","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine, University of Milan, 20133, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Swiss Competence Center of Animal Breeding and Genetics, Bern University of Applied Sciences HAFL & Agroscope, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika 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