{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T20:26:22Z","timestamp":1769286382551,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6455,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Chediak\u2010Higashi syndrome (CHS) is an autosomal recessive genetic disease of humans, and clinically similar diseases occur in cats, mink, cattle, mice, killer whales, blue foxes, and silver foxes. It is characterized by incomplete albinism, increased susceptibility to infection, and the most distinctive hallmark, the presence of enlarged cytoplasmic granules in many cell types. The acid phosphatase\u2010positive granules, lysosomes, of fibroblasts from control and CHS humans, cats, mink, cattle, and mice were examined, These studies represent the initial characterization of the lesions in fibroblasts of CHS cats, mink, and cattle. Fibroblasts from each species and genotype were stained histochemically for acid phosphatase, and morphometric analysis of the distribution of acid phosphatase\u2010positive granules was performed. The lysosomes in the CHS fibroblasts tended to be restricted to the perinuclear area of the cytoplasm, whereas the lysosomes in the normal fibroblasts were generally more widely distributed in the cytoplasm. The lysosomes in the CHS fibroblasts of all species examined were also more enlarged and heterogeneous than those in the control fibroblasts.<\/jats:p>","DOI":"10.1002\/ajmg.1320280222","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:26:37Z","timestamp":1118496397000},"page":"445-454","source":"Crossref","is-referenced-by-count":14,"title":["A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak\u2010Higashi syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"Jocelyn D.","family":"Penner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Prieur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.35.5.496"},{"key":"e_1_2_1_3_1","first-page":"900","article-title":"Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos","volume":"15","author":"Beguez\u2010Cesar A","year":"1943","journal-title":"Bol Soc Cubana Pediatr"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(67)92059-4"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.67.1.357"},{"key":"e_1_2_1_6_1","first-page":"303","article-title":"Ultrastructure of bone marrow granulocytes in normal mink and mink with the homolog of the Chediak\u2010Higashi trait of humans. I. Origin of the abnormal granules present in the neutrophils of mink with the C\u2010HS trait","volume":"24","author":"Davis WC","year":"1971","journal-title":"Lab Invest"},{"key":"e_1_2_1_7_1","unstructured":"HindsKR(1980): \u201cA Cell Culture Study of Chediak\u2010Higashi Syndrome.\u201d Dissertation Cornell University Medical College."},{"key":"e_1_2_1_8_1","first-page":"685","article-title":"Cytoplasmic inclusions in cultured fibroblasts from mink and mice","volume":"28","author":"Hurvitz A","year":"1969","journal-title":"Fed Proc"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/70.1.45"},{"key":"e_1_2_1_10_1","first-page":"735","volume-title":"The Neutrophil: Function and Clinical Disorders","author":"Klebanoff SJ","year":"1978"},{"key":"e_1_2_1_11_1","first-page":"554","article-title":"The Chediak\u2010Higashi syndrome of cats","volume":"36","author":"Kramer JW","year":"1977","journal-title":"Lab Invest"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V22.4.477.477"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a107620"},{"key":"e_1_2_1_14_1","volume-title":"Introduction to Probability and Statistics","author":"Mendenhall W","year":"1979"},{"key":"e_1_2_1_15_1","first-page":"313","article-title":"A Chediak\u2010Htgashi\u2010like syndrome in Arctic blue foxes","volume":"89","author":"Nes N","year":"1983","journal-title":"Finsk Veterinaertidsskrift"},{"key":"e_1_2_1_16_1","first-page":"325","article-title":"Norsk perlerev\u2010mutant med Chediak\u2010Higashi\u2010liknende syndrom","volume":"59","author":"Nes N","year":"1985","journal-title":"Norsk Pelsdyrblad"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/21.3.218"},{"key":"e_1_2_1_18_1","first-page":"17","article-title":"Formation of anomalous lysosomes in monocytes, neutrophils and eosinophils from bone marrow of mice with Chediak\u2010Higashi syndrome","volume":"32","author":"Oliver C","year":"1975","journal-title":"Lab Invest"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.69.1.205"},{"key":"e_1_2_1_20_1","first-page":"684A","article-title":"Studies on the pathogenesis of Chediak\u2010Higashi syndrome (CHS)","volume":"26","author":"Ostlund RE","year":"1978","journal-title":"Clin Res"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/49.3.505"},{"key":"e_1_2_1_22_1","first-page":"535","article-title":"Chediak\u2010Higashi syndrome of animals","volume":"90","author":"Prieur DJ","year":"1978","journal-title":"Am J Pathol"},{"key":"e_1_2_1_23_1","first-page":"822","article-title":"Light and electron microscopy of peripheral blood neutrophils in a killer whale affected with Chediak\u2010Higashi syndrome","volume":"32","author":"Taylor RF","year":"1973","journal-title":"Fed Proc"},{"key":"e_1_2_1_24_1","first-page":"270","article-title":"Giant dense bodies in fibroblasts cultured from beige mice with the Chediak\u2010Higashi syndrome","volume":"105","author":"Vincent RA","year":"1981","journal-title":"Am J Pathol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320280222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320280222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T10:04:42Z","timestamp":1695809082000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320280222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,10]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,10]]}},"alternative-id":["10.1002\/ajmg.1320280222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320280222","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,10]]}}}