{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:28:26Z","timestamp":1777548506461,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5818,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A laboratory\u2010maintained colony of English springer spaniel dogs heterozygous for a putative autosomal recessive immotile\u2010cilia syndrome (ICS) has been studied. Matings between dogs thought to be heterozygous for ICS resulted in 22 pups, five (three males and two females) of which were homozygous for ICS. Four of the five ICS\u2010affected dogs had chronic rhinitis and bronchopneumonia. The other dog had a serious nasal discharge and died at 10 days. Four dogs had situs inversus totalis (Kartagener syndrome), and the two males of reproductive age were azoospermic. In the two ICS dogs studied for ciliary function, in vivo mucociliary clearance was absent, and in vitro ciliary beat was rarely observed and of low frequency. Scanning and transmission electron microscopy disclosed the same lesions in respiratory cilia from all dogs with ICS, including random orientation and partial outer dynein arm deficiency. Four of five dogs with ICS had dilated lateral ventricles. One female pup with neonatal rhinitis and bronchopneumonia, situs solitus, and dilated lateral ventricles was presumed to be homozygous for ICS, but died without functional or structural confirmation of defective respiratory cilia. An autosomal recessive mode of inheritance for the ciliary defects and respiratory signs of ICS in these dogs is proposed.<\/jats:p>","DOI":"10.1002\/ajmg.1320330303","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:05:12Z","timestamp":1118545512000},"page":"290-298","source":"Crossref","is-referenced-by-count":27,"title":["Familial immotile\u2010cilia syndrome in English springer spaniel dogs"],"prefix":"10.1002","volume":"33","author":[{"given":"David F.","family":"Edwards","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clark S.","family":"Patton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Toal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory B.","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clinton D.","family":"Lothrop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084576"},{"key":"e_1_2_1_3_1","first-page":"1","article-title":"The immotile\u2010cilia syndrome and other ciliary diseases","volume":"19","author":"Afzelius BA","year":"1979","journal-title":"Int Rev Exp Pathol"},{"key":"e_1_2_1_4_1","first-page":"560","article-title":"Clinical, pathologic, and ultrastructural features of situs inversus and immotile\u2010cilia syndrome in a dog","volume":"184","author":"Afzelius BA","year":"1984","journal-title":"J Am Vet Med Assoc"},{"key":"e_1_2_1_5_1","first-page":"822","article-title":"Kartagener's syndrome in a dog","volume":"18","author":"August JR","year":"1982","journal-title":"J Am Anim Hosp Assoc"},{"key":"e_1_2_1_6_1","first-page":"335a","article-title":"Defective axonemes in cilia and flagella of male\u2010sterile mutant mice","volume":"95","author":"Bryan JHD","year":"1982","journal-title":"J Cell Biol"},{"key":"e_1_2_1_7_1","first-page":"1127","article-title":"Primary dextrocardia with situs inversus, associated with sinusitis and bronchitis in a dog","volume":"164","author":"Carrig CB","year":"1974","journal-title":"J Am Vet Med Assoc"},{"key":"e_1_2_1_8_1","first-page":"302","article-title":"Genetic heterogeneity of dynein\u2010deficiency in cilia from patients with respiratory disease","volume":"126","author":"Chao J","year":"1982","journal-title":"Am Rev Resp Dis"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.71.2.155"},{"key":"e_1_2_1_10_1","first-page":"89","volume-title":"American College of Veterinary Internal Medicine Proc 4th Annual Veterinary Medical Forum","author":"Edwards DF","year":"1986"},{"key":"e_1_2_1_11_1","first-page":"667","article-title":"Immotile cilia syndrome in three dogs from a litter","volume":"183","author":"Edwards DF","year":"1983","journal-title":"J Am Vet Med Assoc"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197707072970101"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.5.481"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198401053100102"},{"key":"e_1_2_1_15_1","first-page":"1","article-title":"Hydrocephalic\u2010polydactyl, a recessive pleiotropic mutant in the mouse and its location in chromosome 6","volume":"51","author":"Hollander WF","year":"1976","journal-title":"Iowa State J Res"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196807112790203"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02141468"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(81)90307-4"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jemt.1060080202"},{"key":"e_1_2_1_20_1","first-page":"1567","article-title":"Immotile cilia syndrome in an aged dog","volume":"190","author":"Killingsworth CR","year":"1987","journal-title":"J Am Vet Med Assoc"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a108749"},{"key":"e_1_2_1_22_1","unstructured":"McKiernanB(1983):What's your diagnosis? 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