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dc.contributor.authorKIM, J. -W.
dc.contributor.authorSeymen, Figen
dc.contributor.authorSIMMER, J. P.
dc.contributor.authorGencay, K.
dc.contributor.authorTuna, E. Bahar
dc.contributor.authorLEE, S. -K.
dc.contributor.authorLEE, K. -E.
dc.contributor.authorKANG, H. -Y.
dc.contributor.authorYıldırım, Mustafa Semih
dc.contributor.authorHWANG, Y. -H.
dc.contributor.authorNAM, K. H.
dc.contributor.authorDE LA GARZA, R. J.
dc.contributor.authorHU, J. C. -C.
dc.date.accessioned2021-03-06T12:42:17Z
dc.date.available2021-03-06T12:42:17Z
dc.date.issued2010
dc.identifier.citationLEE S. -. , Seymen F., LEE K. -. , KANG H. -. , Yıldırım M. S. , Tuna E. B. , Gencay K., HWANG Y. -. , NAM K. H. , DE LA GARZA R. J. , et al., "Novel WDR72 Mutation and Cytoplasmic Localization", JOURNAL OF DENTAL RESEARCH, cilt.89, ss.1378-1382, 2010
dc.identifier.issn0022-0345
dc.identifier.othervv_1032021
dc.identifier.otherav_f5234975-b9f6-4064-be26-47a93c8eb9ac
dc.identifier.urihttp://hdl.handle.net/20.500.12627/160673
dc.identifier.urihttps://doi.org/10.1177/0022034510382117
dc.description.abstractThe proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypo-maturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently in the two families. The disease perfectly segregated with the genotype. Only persons with both copies of the mutant allele were affected. Their hypomineralized enamel suffered attrition and orange-brown staining following eruption. Expression of WDR72 fused to green fluorescent protein showed a cytoplasmic localization exclusively and was absent from the nucleus. We conclude that WDR72 is a cytoplasmic protein that is critical for dental enamel formation.
dc.language.isoeng
dc.subjectDiş Hekimliği
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectDİŞ HEKİMLİĞİ, ORAL CERRAHİ VE TIP
dc.titleNovel WDR72 Mutation and Cytoplasmic Localization
dc.typeMakale
dc.relation.journalJOURNAL OF DENTAL RESEARCH
dc.contributor.departmentSeoul National University (SNU) , ,
dc.identifier.volume89
dc.identifier.issue12
dc.identifier.startpage1378
dc.identifier.endpage1382
dc.contributor.firstauthorID48283


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