Novel frameshift mutations in DSPP cause dentin dysplasia type II
dc.contributor.author | Lee, Ji Won | |
dc.contributor.author | Hong, Jiwon | |
dc.contributor.author | Seymen, Figen | |
dc.contributor.author | Kim, Youn Jung | |
dc.contributor.author | Kang, Jenny | |
dc.contributor.author | Koruyucu, Mine | |
dc.contributor.author | Tuloglu, Nuray | |
dc.contributor.author | Bayrak, Sule | |
dc.contributor.author | Song, Ji‐soo | |
dc.contributor.author | Shin, Teo Jeon | |
dc.contributor.author | Hyun, Hong‐keun | |
dc.contributor.author | Kim, Young‐jae | |
dc.contributor.author | Lee, Jae‐cheoun | |
dc.contributor.author | Park, Joo‐cheol | |
dc.contributor.author | Hu, Jan | |
dc.contributor.author | Simmer, James | |
dc.contributor.author | Kim, Jung‐wook | |
dc.date.accessioned | 2020-01-13T15:10:08Z | |
dc.date.available | WITHHELD_11_MONTHS | |
dc.date.available | 2020-01-13T15:10:08Z | |
dc.date.issued | 2019-11 | |
dc.identifier.citation | Lee, 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.issn | 1354-523X | |
dc.identifier.issn | 1601-0825 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/152795 | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.title | Novel frameshift mutations in DSPP cause dentin dysplasia type II | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Dentistry | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152795/1/odi13182.pdf | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152795/2/odi13182_am.pdf | |
dc.identifier.doi | 10.1111/odi.13182 | |
dc.identifier.source | Oral Diseases | |
dc.identifier.citedreference | Kim, J. W., & Simmer, J. P. ( 2007 ). Hereditary dentin defects. Journal of Dental Research, 86, 392 â 399. | |
dc.identifier.citedreference | Beattie, 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.citedreference | McKnight, 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.citedreference | McKnight, 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.citedreference | Kawasaki, 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.citedreference | Yang, 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.citedreference | Yamakoshi, 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.citedreference | Yamakoshi, 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.citedreference | von 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.citedreference | Shields, 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.owningcollname | Interdisciplinary and Peer-Reviewed |
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