{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:17:57Z","timestamp":1791944277671,"version":"4.3.4"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1997,7,1]],"date-time":"1997-07-01T00:00:00Z","timestamp":867715200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[1997,7,1]],"date-time":"1997-07-01T00:00:00Z","timestamp":867715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1997,7,1]]},"DOI":"10.1038\/ng0797-289","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:32:02Z","timestamp":1092861122000},"page":"289-292","source":"Crossref","is-referenced-by-count":392,"title":["Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene"],"prefix":"10.1038","volume":"16","author":[{"given":"Elodie","family":"Pastural","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck J.","family":"Barrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Dufourcq-Lagelouse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Certain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Sanal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Jabado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"Seger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Griscelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve de Saint","family":"Basile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0797289_CR1","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1016\/0002-9343(78)90858-6","volume":"65","author":"C Griscelli","year":"1978","unstructured":"Griscelli, C. et al. A syndrome associating partial albinism and immunodefiency. Am. J. Med. 65, 691\u2013702 (1978).","journal-title":"Am. J. Med."},{"key":"BFng0797289_CR2","first-page":"733","volume":"46","author":"M Bejaoui","year":"1989","unstructured":"Bejaoui, M. et al. Phase acc\u00e9l\u00e9r\u00e9e de la maladie de Ch\u00e9diak-Higashi. Arch. Franc. P\u00e9diatr. 46, 733\u2013736 (1989).","journal-title":"Arch. Franc. P\u00e9diatr."},{"key":"BFng0797289_CR3","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1016\/S0022-3476(05)82003-7","volume":"125","author":"C Klein","year":"1994","unstructured":"Klein, C. et al. Partial albinism with immunodeficiency (Griscelli syndrome). J. Pediatr. 125, 886\u2013895 (1994).","journal-title":"J. Pediatr."},{"key":"BFng0797289_CR4","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1128\/MCB.10.2.501","volume":"10","author":"MC Strobel","year":"1990","unstructured":"Strobel, M.C., Seperack, P.K., Copeland, N.G. & Jenkins, N.A. Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal 20J and radiation-induced dilute prenatal lethal Aa2 alleles. Mol. Cell Biol. 10, 501\u2013509 (1990).","journal-title":"Mol. Cell Biol."},{"key":"BFng0797289_CR5","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1038\/349709a0","volume":"349","author":"JA Mercer","year":"1991","unstructured":"Mercer, J.A., Seperack, P.K., Strobel, M.C., Copeland, N.G. & Jenkins, N.A. Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349, 709\u2013713 (1991).","journal-title":"Nature"},{"key":"BFng0797289_CR6","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1146\/annurev.cb.11.110195.003221","volume":"11","author":"MS Mooseker","year":"1995","unstructured":"Mooseker, M.S. & Cheney, R.E. Unconventional myosins. Annu. Rev. Cell Dev. Biol. 11, 633\u2013675 (1995).","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"BFng0797289_CR7","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1159\/000133937","volume":"69","author":"KJ Moore","year":"1995","unstructured":"Moore, K.J. et al. Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. Cytogenet. Cell Genet. 69, 53\u201358 (1995).","journal-title":"Cytogenet. Cell Genet."},{"key":"BFng0797289_CR8","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1006\/geno.1996.0488","volume":"36","author":"T Hasson","year":"1996","unstructured":"Hasson, T. et al. Mapping of unconventional myosins in mouse and human. Genomics 36, 431\u2013439 (1996).","journal-title":"Genomics"},{"key":"BFng0797289_CR9","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1002\/ajmg.1320030112","volume":"3","author":"BR Elejalde","year":"1979","unstructured":"Elejalde, B.R. et al. Mutations affecting pigmentation in man: I Neuroectodermal melanolysosomal disease. Am. J. Med. Genet. 3, 65\u201380 (1979).","journal-title":"Am. J. Med. Genet."},{"key":"BFng0797289_CR10","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1007\/BF02093723","volume":"150","author":"A Haraldsson","year":"1991","unstructured":"Haraldsson, A., Weemaes, C., Bakkeren, J. & Happle, R. Griscelli disease with cerebral involvement. Eur. J. Pediatr. 150, 419\u2013422 (1991).","journal-title":"Eur. J. Pediatr."},{"key":"BFng0797289_CR11","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1007\/BF01955897","volume":"152","author":"H Hurvitz","year":"1993","unstructured":"Hurvitz, H. et al. A kindred with Griscelli disease: spectrum of neurological involvement. Eur. J. Pediatr. 152, 402\u2013405 (1993).","journal-title":"Eur. J. Pediatr."},{"key":"BFng0797289_CR12","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/293370a0","volume":"293","author":"NA Jenkins","year":"1981","unstructured":"Jenkins, N.A., Copeland, N.G., Taylor, B. & Lee, B.K., Dilute (d) coat colour mutation of DBA\/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293, 370\u2013374 (1981).","journal-title":"Nature"},{"key":"BFng0797289_CR13","doi-asserted-by":"publisher","first-page":"2326","DOI":"10.1002\/j.1460-2075.1995.tb07227.x","volume":"14","author":"PK Seperack","year":"1995","unstructured":"Seperack, P.K., Mercer, J.A., Strobel, M.C., Copeland, N.G. & Jenkins, N.A. Retroviral sequences located within an intron of the dilute gene alter dilute expression in a tissue-specific manner. EMBO J. 14, 2326\u20132332 (1995).","journal-title":"EMBO J."},{"key":"BFng0797289_CR14","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1083\/jcb.119.6.1541","volume":"119","author":"EM Espreafico","year":"1992","unstructured":"Espreafico, E.M. et al. Primary structure and cellular localization of chicken brain myosin-V (p190), an unconventional myosin with calmodulin light chains. J Cell. Biol. 119, 1541\u20131557 (1992).","journal-title":"J Cell. Biol."},{"key":"BFng0797289_CR15","unstructured":"Evans, L.L., Hammer, J. & Bridgman, P.C. Subcellular localization of myosin V in nerve growth cones. Mol. Biol. Cell. 6, Suppl 145a (1995)."},{"key":"BFng0797289_CR16","first-page":"2639","volume":"27","author":"F Mani","year":"1994","unstructured":"Mani, F., Espreafico, E. & Larson, R. Myosin-V is present in synaptosomes from rat cerebral cortex. Braz. J. Med. Biol. Res. 27, 2639\u20132643 (1994).","journal-title":"Braz. J. Med. Biol. Res."},{"key":"BFng0797289_CR17","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1083\/jcb.113.3.539","volume":"113","author":"G Johnston","year":"1991","unstructured":"Johnston, G., Prendergast, J. & Singer, R., The Saccharomyces cerevisiae MYO2 gene encodes an essential myosin for vectorial transport of vesicles. J. Cell Biol. 113, 539\u2013551 (1991).","journal-title":"J. Cell Biol."},{"key":"BFng0797289_CR18","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/ng1196-307","volume":"14","author":"DL Nagle","year":"1996","unstructured":"Nagle, D.L. et al. Identification and mutation analysis of the complete gene for Ch\u00e9diak-Higashi syndrome. Nature Genet. 14, 307\u2013311 (1996).","journal-title":"Nature Genet."},{"key":"BFng0797289_CR19","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1038\/382262a0","volume":"382","author":"MDFS Barbosa","year":"1996","unstructured":"Barbosa, M.D.F.S. et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382, 262\u2013265 (1996).","journal-title":"Nature"},{"key":"BFng0797289_CR20","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1111\/1523-1747.ep12703609","volume":"60","author":"DB Windhorst","year":"1973","unstructured":"Windhorst, D.B. & Padgett, G., Ch\u00e9diak-Higashi syndrome and the homologous trait in animals. J. Invest. Dermatol. 60, 529\u2013537 (1973).","journal-title":"J. Invest. Dermatol."},{"key":"BFng0797289_CR21","first-page":"625","volume":"59","author":"FJ Barrat","year":"1996","unstructured":"Barrat, F.J. et al. Genetic and physical mapping of the Ch\u00e9diak-Higashi syndrome on chromosome 1q42-43. Am. J. Hum. Genet. 59, 625\u2013632 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0797289_CR22","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/380152a0","volume":"380","author":"C Dib","year":"1996","unstructured":"Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152\u2013154 (1996).","journal-title":"Nature"},{"key":"BFng0797289_CR23","first-page":"519","volume":"56","author":"L Kruglyak","year":"1995","unstructured":"Kruglyak, L., Daly, M. & Lander, E. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am. J. Hum. Genet. 56, 519\u2013527 (1995).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0797289_CR24","volume-title":"Molecular Cloning: A Laboratory Manual","author":"T Maniatis","year":"1982","unstructured":"Maniatis, T., Fritsch, E. & Sambrook, J. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor, 1982)"},{"key":"BFng0797289_CR25","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0092-8674(05)80080-7","volume":"75","author":"RE Cheney","year":"1993","unstructured":"Cheney, R.E. et al. Brain myosin-V is a two-headed unconventional myosin with motor activity. Cell 75, 13\u201323 (1993).","journal-title":"Cell"},{"key":"BFng0797289_CR26","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1042\/bj2620693","volume":"262","author":"KKW Wang","year":"1989","unstructured":"Wang, K.K.W., Villalobo, A. & Roufogalis, B.D. Calmodulin-binding proteins as calpain substrates. Biochem. J. 262, 693\u2013706 (1989).","journal-title":"Biochem. J."}],"updated-by":[{"DOI":"10.1038\/15565","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[1999,11,1]],"date-time":"1999-11-01T00:00:00Z","timestamp":941414400000}}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0797-289","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0797-289.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0797-289.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:49:12Z","timestamp":1684442952000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0797-289"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,7,1]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,7,1]]}},"alternative-id":["BFng0797289"],"URL":"https:\/\/doi.org\/10.1038\/ng0797-289","relation":{"correction":[{"id-type":"doi","id":"10.1038\/15565","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,7,1]]}}}