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Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Seymen, Figen | en |
dc.contributor.author | Kim, Youn Jung | - |
dc.contributor.author | Lee, Ye Ji | - |
dc.contributor.author | Kang, Jenny | - |
dc.contributor.author | Kim, Tak-Heun | - |
dc.contributor.author | Choi, Hwajung | - |
dc.contributor.author | Koruyucu, Mine | - |
dc.contributor.author | Kasimoglu, Yelda | - |
dc.contributor.author | Tuna, Elif Bahar | - |
dc.contributor.author | Gencay, Koray | - |
dc.contributor.author | Shin, Teo Jeon | - |
dc.contributor.author | Hyun, Hong-Keun | - |
dc.contributor.author | Kim, Young-Jae | - |
dc.contributor.author | Lee, Sang-Hoon | - |
dc.contributor.author | Lee, Zang Hee | - |
dc.contributor.author | Zhang, Hong | - |
dc.contributor.author | Hu, Jan C-C. | - |
dc.contributor.author | Simmer, James P. | - |
dc.contributor.author | Kim, Jung-Wook | - |
dc.date.accessioned | 2017-04-19T00:19:46Z | - |
dc.date.available | 2017-11-28T09:52:26Z | - |
dc.date.issued | 2016-11 | - |
dc.identifier.citation | American Journal of Human Genetics, Vol.99 No.5, pp. 1199-1205 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://hdl.handle.net/10371/116882 | - |
dc.description.abstract | Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypo plastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c.331C>T (p.Arg111Cys), family 3 by the homozygous ACPT mutation c.226C>T (p.Arg76Cys), and family 6 by the compound heterozygous ACPT mutations c.382G>C (p.Ala128Pro) and 397G>A (p.Glu133Lys). Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization. Immunohistochemical analysis confirmed localization of ACPT in secretory-stage ameloblasts. The study results provide evidence for the crucial function of ACPT during amelogenesis. | en |
dc.language.iso | en | - |
dc.publisher | Cell Press | en |
dc.subject | Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta | en |
dc.subject | 복합학 | en |
dc.subject | amelogenesis imperfecta | - |
dc.subject | testicular acid phosphatase | - |
dc.subject | ACPT | - |
dc.subject | hypoplastic amelogenesis imperfecta | - |
dc.subject | autosomal-recessive | - |
dc.title | Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 김윤정 | - |
dc.contributor.AlternativeAuthor | 이예지 | - |
dc.contributor.AlternativeAuthor | 김탁흔 | - |
dc.contributor.AlternativeAuthor | 최화정 | - |
dc.contributor.AlternativeAuthor | 신터전 | - |
dc.contributor.AlternativeAuthor | 김영재 | - |
dc.contributor.AlternativeAuthor | 이상훈 | - |
dc.contributor.AlternativeAuthor | 이장희 | - |
dc.contributor.AlternativeAuthor | 김정욱 | - |
dc.contributor.AlternativeAuthor | 현홍근 | - |
dc.identifier.doi | 10.1016/j.ajhg.2016.09.018 | - |
dc.citation.journaltitle | American Journal of Human Genetics | - |
dc.description.srnd | OAIID:RECH_ACHV_DSTSH_NO:T201609584 | - |
dc.description.srnd | RECH_ACHV_FG:RR00200001 | - |
dc.description.srnd | ADJUST_YN: | - |
dc.description.srnd | EMP_ID:A080446 | - |
dc.description.srnd | CITE_RATE:10.794 | - |
dc.description.srnd | DEPT_NM:치의학과 | - |
dc.description.srnd | EMAIL:hege1@snu.ac.kr | - |
dc.description.srnd | SCOPUS_YN:Y | - |
dc.description.srnd | CONFIRM:Y | - |
dc.identifier.srnd | T201609584 | - |
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