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Novel frameshift mutations in DSPP cause dentin dysplasia type II
dc.contributor.authorLee, Ji Won
dc.contributor.authorHong, Jiwon
dc.contributor.authorSeymen, Figen
dc.contributor.authorKim, Youn Jung
dc.contributor.authorKang, Jenny
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorTuloglu, Nuray
dc.contributor.authorBayrak, Sule
dc.contributor.authorSong, Ji‐soo
dc.contributor.authorShin, Teo Jeon
dc.contributor.authorHyun, Hong‐keun
dc.contributor.authorKim, Young‐jae
dc.contributor.authorLee, Jae‐cheoun
dc.contributor.authorPark, Joo‐cheol
dc.contributor.authorHu, Jan
dc.contributor.authorSimmer, James
dc.contributor.authorKim, Jung‐wook
dc.date.accessioned2020-01-13T15:10:08Z
dc.date.availableWITHHELD_11_MONTHS
dc.date.available2020-01-13T15:10:08Z
dc.date.issued2019-11
dc.identifier.citationLee, Ji Won; Hong, Jiwon; Seymen, Figen; Kim, Youn Jung; Kang, Jenny; Koruyucu, Mine; Tuloglu, Nuray; Bayrak, Sule; Song, Ji‐soo ; Shin, Teo Jeon; Hyun, Hong‐keun ; Kim, Young‐jae ; Lee, Jae‐cheoun ; Park, Joo‐cheol ; Hu, Jan; Simmer, James; Kim, Jung‐wook (2019). "Novel frameshift mutations in DSPP cause dentin dysplasia type II." Oral Diseases 25(8): 2044-2046.
dc.identifier.issn1354-523X
dc.identifier.issn1601-0825
dc.identifier.urihttps://hdl.handle.net/2027.42/152795
dc.publisherWiley Periodicals, Inc.
dc.titleNovel frameshift mutations in DSPP cause dentin dysplasia type II
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelDentistry
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152795/1/odi13182.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152795/2/odi13182_am.pdf
dc.identifier.doi10.1111/odi.13182
dc.identifier.sourceOral Diseases
dc.identifier.citedreferenceKim, J. W., & Simmer, J. P. ( 2007 ). Hereditary dentin defects. Journal of Dental Research, 86, 392 â 399.
dc.identifier.citedreferenceBeattie, M. L., Kim, J. W., Gong, S. G., Murdochâ Kinch, C. A., Simmer, J. P., & Hu, J. C. ( 2006 ). Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. Journal of Dental Research, 85, 329 â 333.
dc.identifier.citedreferenceMcKnight, D. A., Suzanne Hart, P., Hart, T. C., Hartsfield, J. K., Wilson, A., Wright, J. T., & Fisher, L. W. ( 2008 ). A comprehensive analysis of normal variation and diseaseâ causing mutations in the human DSPP gene. Human Mutation, 29, 1392 â 1404.
dc.identifier.citedreferenceMcKnight, D. A., Simmer, J. P., Hart, P. S., Hart, T. C., & Fisher, L. W. ( 2008 ). Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. Journal of Dental Research, 87, 1108 â 1111.
dc.identifier.citedreferenceKawasaki, K., & Weiss, K. M. ( 2006 ). Evolutionary genetics of vertebrate tissue mineralization: The origin and evolution of the secretory calciumâ binding phosphoprotein family. Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, 306, 295 â 316.
dc.identifier.citedreferenceYang, J., Kawasaki, K., Lee, M., Reid, B. M., Nunez, S. M., Choi, M., â ¦ Hu, J. C. ( 2016 ). The dentin phosphoprotein repeat region and inherited defects of dentin. Molecular Genetics & Genomic Medicine, 4, 28 â 38.
dc.identifier.citedreferenceYamakoshi, Y., & Simmer, J. P. ( 2018 ). Structural features, processing mechanism and gene splice variants of dentin sialophosphoprotein. The Japanese Dental Science Review, 54, 183 â 196.
dc.identifier.citedreferenceYamakoshi, Y., Nagano, T., Hu, J. C., Yamakoshi, F., & Simmer, J. P. ( 2011 ). Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments. BMC Biochemistry, 12, 6.
dc.identifier.citedreferencevon Marschall, Z., Mok, S., Phillips, M. D., McKnight, D. A., & Fisher, L. W. ( 2012 ). Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. Journal of Bone and Mineral Research, 27, 1309 â 1321.
dc.identifier.citedreferenceShields, E. D., Bixler, D., & Elâ Kafrawy, A. M. ( 1973 ). A proposed classification for heritable human dentine defects with a description of a new entity. Archives of Oral Biology, 18, 543 â 553.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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