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dc.contributor.authorMenasche, G
dc.contributor.authorHo, CH
dc.contributor.authorSanal, O
dc.contributor.authorFeldmann, J
dc.contributor.authorTezcan, I
dc.contributor.authorErsoy, F
dc.contributor.authorHoudusse, A
dc.contributor.authorFischer, A
dc.contributor.authorde Saint Basile, G
dc.date.accessioned2019-12-10T10:38:16Z
dc.date.available2019-12-10T10:38:16Z
dc.date.issued2003
dc.identifier.issn0021-9738
dc.identifier.urihttps://doi.org/10.1172/JCI200318264
dc.identifier.urihttp://hdl.handle.net/11655/14045
dc.description.abstractGriscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorder. Two different genetic forms, GS1 and GS2, respectively, account for the mutually exclusive neurological and immunological phenotypes. Mutations in the gene encoding the molecular motor protein Myosin Va (MyoVa) cause GS1 and the dilute mutant in mice, whereas mutations in the gene encoding the small GTPase Rab27a are responsible for GS2 and the ashen mouse model. We herein present genetic and functional evidence that a third form of GS (GS3), whose expression is restricted to the characteristic hypopigmentation of GS, results from mutation in the gene that encodes melanophilin (Mlph), the ortholog of the gene mutated in leaden mice. We also show that an identical phenotype can result from the deletion of the MYO5A F-exon, an exon with a tissue-restricted expression pattern. This spectrum of GS conditions pinpoints the distinct molecular pathways used by melanocytes, neurons, and immune cells in secretory granule exocytosis, which in part remain to be unraveled.
dc.language.isoen
dc.publisherAmer Soc Clinical Investigation Inc
dc.relation.isversionof10.1172/JCI200318264
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectResearch & Experimental Medicine
dc.titleGriscelli Syndrome Restricted To Hypopigmentation Results From A Melanophilin Defect (Gs3) Or A Myo5A F-Exon Deletion (Gs1)
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalJournal Of Clinical Investigation
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume112
dc.identifier.issue3
dc.identifier.startpage450
dc.identifier.endpage456
dc.description.indexWoS
dc.description.indexScopus


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