{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T19:14:20Z","timestamp":1723403660345},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T00:00:00Z","timestamp":1486080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2017,8]]},"abstract":"Summary<\/jats:title>Von Willebrand disease (VWD<\/jats:styled-content>), caused by deficiency of the von Willebrand factor (VWF<\/jats:styled-content>), is the most common bleeding disorder in humans and dogs. The complete cDNA<\/jats:styled-content> encoding VWF<\/jats:styled-content> of a German Wirehaired Pointer with type 2 VWD<\/jats:styled-content> was sequenced, and we found four variants that alter the amino acid sequence. These variants were: c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A and c.4937G alleles co\u2010segregated with the VWF<\/jats:styled-content> antigen level in a four\u2010generation pedigree with the disease. Healthy dogs of the breed were found that were homozygous for the c.1777A or the c.5544A allele, indicating that these variants do not cause VWD<\/jats:styled-content>. Dogs that were homozygous for the c.4937G allele and had no signs of a bleeding disorder were observed in the Chinese Crested dog breed. Thus, only the c.1657G variant was found in the homozygous state exclusively in VWD<\/jats:styled-content> affecteds, and this variant is the strongest candidate to be the cause of VWD<\/jats:styled-content> type 2 in the German Wirehaired Pointer breed. A screen of German Shorthaired Pointers indicated that the variant also segregates with VWD<\/jats:styled-content> in this breed.<\/jats:p>","DOI":"10.1111\/age.12544","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T18:42:48Z","timestamp":1486147368000},"page":"493-496","source":"Crossref","is-referenced-by-count":7,"title":["A novel VWF<\/i> variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers"],"prefix":"10.1111","volume":"48","author":[{"given":"M.","family":"Vos\u2010Loohuis","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine of Companion Animals Faculty of Veterinary Medicine Utrecht University PO Box 80154, 3508TD Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. A.","family":"van Oost","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine of Companion Animals Faculty of Veterinary Medicine Utrecht University PO Box 80154, 3508TD Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Dangel","sequence":"additional","affiliation":[{"name":"Laboklin Labor f\u00fcr Klinische Diagnostik GmbH & Co. KG Steubenstra\u00dfe 4 97688 Bad Kissingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Langbein\u2010Detsch","sequence":"additional","affiliation":[{"name":"Laboklin Labor f\u00fcr Klinische Diagnostik GmbH & Co. KG Steubenstra\u00dfe 4 97688 Bad Kissingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. A.","family":"Leegwater","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine of Companion Animals Faculty of Veterinary Medicine Utrecht University PO Box 80154, 3508TD Utrecht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-5616(88)50017-7"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.41-3-221"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_3_6_1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-0038-1642670","article-title":"Molecular mechanism and classification of von Willebrand disease","volume":"74","author":"Sadler J.E.","year":"1995","journal-title":"Thrombosis and Haemostasis"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/01652176.1998.10807436"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.148.3.80"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1892\/0891-6640(2004)18<282:DTFTIV>2.0.CO;2"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12544","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12544","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T07:40:15Z","timestamp":1696491615000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,3]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1111\/age.12544"],"URL":"https:\/\/doi.org\/10.1111\/age.12544","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,3]]}}}