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A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Tae-Joon | - |
dc.contributor.author | Lee, Kyung-Eun | - |
dc.contributor.author | Lee, Sook-Kyung | - |
dc.contributor.author | Song, Su Jeong | - |
dc.contributor.author | Kim, Kyung Jin | - |
dc.contributor.author | Jeon, Daehyun | - |
dc.contributor.author | Lee, Gene | - |
dc.contributor.author | Kim, Ha-Neui | - |
dc.contributor.author | Lee, Hye Ran | - |
dc.contributor.author | Eom, Hye-Hyun | - |
dc.contributor.author | Lee, Zang Hee | - |
dc.contributor.author | Kim, Ok-Hwa | - |
dc.contributor.author | Park, Woong-Yang | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Ikegawa, Shiro | - |
dc.contributor.author | Yoo, Won Joon | - |
dc.contributor.author | Choi, In Ho | - |
dc.contributor.author | Kim, Jung-Wook | - |
dc.creator | 이장희 | - |
dc.date.accessioned | 2013-04-22T04:26:00Z | - |
dc.date.available | 2013-04-22T04:26:00Z | - |
dc.date.issued | 2012-08 | - |
dc.identifier.citation | AMERICAN JOURNAL OF HUMAN GENETICS Vol.91 No.2, pp. 343-348 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://hdl.handle.net/10371/82234 | - |
dc.description.abstract | Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease
characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c. 14C>T in the 50-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V. | - |
dc.language.iso | en | en |
dc.publisher | Elsevier | en |
dc.subject | 의약학 | en |
dc.title | A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V. | en |
dc.type | Article | - |
dc.contributor.AlternativeAuthor | 조태준 | - |
dc.contributor.AlternativeAuthor | 이경은 | - |
dc.contributor.AlternativeAuthor | 이숙경 | - |
dc.contributor.AlternativeAuthor | 송수정 | - |
dc.contributor.AlternativeAuthor | 김경진 | - |
dc.contributor.AlternativeAuthor | 전대현 | - |
dc.contributor.AlternativeAuthor | 이진 | - |
dc.contributor.AlternativeAuthor | 김하늬 | - |
dc.contributor.AlternativeAuthor | 이혜란 | - |
dc.contributor.AlternativeAuthor | 엄혜현 | - |
dc.contributor.AlternativeAuthor | 이장희 | - |
dc.contributor.AlternativeAuthor | 김옥화 | - |
dc.contributor.AlternativeAuthor | 박웅양 | - |
dc.contributor.AlternativeAuthor | 박성섭 | - |
dc.contributor.AlternativeAuthor | 유원준 | - |
dc.contributor.AlternativeAuthor | 최인호 | - |
dc.contributor.AlternativeAuthor | 김정욱 | - |
dc.identifier.doi | 10.1016/j.ajhg.2012.06.005 | - |
dc.description.srnd | OAIID:oai:osos.snu.ac.kr:snu2012-01/102/0000026258/4 | - |
dc.description.srnd | SEQ:4 | - |
dc.description.srnd | PERF_CD:SNU2012-01 | - |
dc.description.srnd | EVAL_ITEM_CD:102 | - |
dc.description.srnd | USER_ID:0000026258 | - |
dc.description.srnd | ADJUST_YN:N | - |
dc.description.srnd | EMP_ID:A076310 | - |
dc.description.srnd | DEPT_CD:861 | - |
dc.description.srnd | CITE_RATE:10.603 | - |
dc.description.srnd | FILENAME:AmericanJHG.pdf | - |
dc.description.srnd | DEPT_NM:치의학과 | - |
dc.description.srnd | EMAIL:zang1959@snu.ac.kr | - |
dc.description.srnd | SCOPUS_YN:Y | - |
dc.description.srnd | CONFIRM:Y | - |
dc.identifier.srnd | 2012-01/102/0000026258/4 | - |
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