DC Field | Value | Language |
---|---|---|
dc.contributor.author | B J Min | - |
dc.contributor.author | Namshin Kim | - |
dc.contributor.author | T Chung | - |
dc.contributor.author | O H Kim | - |
dc.contributor.author | G Nishimura | - |
dc.contributor.author | C Y Chung | - |
dc.contributor.author | H R Song | - |
dc.contributor.author | H W Kim | - |
dc.contributor.author | H R Lee | - |
dc.contributor.author | Jiwoong Kim | - |
dc.contributor.author | T H Kang | - |
dc.contributor.author | M E Seo | - |
dc.contributor.author | S D Yang | - |
dc.contributor.author | D H Kim | - |
dc.contributor.author | S B Lee | - |
dc.contributor.author | J I Kim | - |
dc.contributor.author | J S Seo | - |
dc.contributor.author | J Y Choi | - |
dc.contributor.author | D Kang | - |
dc.contributor.author | D Kim | - |
dc.contributor.author | W Y Park | - |
dc.contributor.author | T J Cho | - |
dc.date.accessioned | 2017-04-19T09:26:26Z | - |
dc.date.available | 2017-04-19T09:26:26Z | - |
dc.date.issued | 2011 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | 10.1016/j.ajhg.2011.10.015 | ko |
dc.identifier.uri | https://oak.kribb.re.kr/handle/201005/10443 | - |
dc.description.abstract | Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been discovered. We captured and sequenced the exomes of eight affected individuals in six unrelated kindreds (three individuals in a family and five simplex individuals). Five novel sequence variants in KIF22, which encodes a member of the kinesin-like protein family, were identified in seven individuals. Sanger sequencing of KIF22 confirmed that c.443C>T (p.Pro148Ser) cosegregated with the phenotype in the affected individuals in the family; c.442C>T (p.Pro148Leu) or c.446G>A (p.Arg149Gln) was present in four of five simplex individuals, but was absent in unaffected individuals in their family and 505 normal cohorts. KIF22 mRNA was detected in human bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. In silico analysis of KIF22 protein structure indicates that Pro148 and Arg149 are important in maintaining hydrogen bonds in the ATP binding and motor domains of KIF22. We conclude that these mutations in KIF22 cause lepto-SEMDJL. | - |
dc.publisher | Elsevier-Cell Press | - |
dc.title | Whole-exome sequencing identifies mutations of KIF22 in Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type = 엑솜 시퀀싱에 의한 SEMD-JL의 원인 유전자 KIF22 발굴 | - |
dc.title.alternative | Whole-exome sequencing identifies mutations of KIF22 in Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type | - |
dc.type | Article | - |
dc.citation.title | American Journal of Human Genetics | - |
dc.citation.number | 6 | - |
dc.citation.endPage | 766 | - |
dc.citation.startPage | 760 | - |
dc.citation.volume | 89 | - |
dc.contributor.affiliatedAuthor | Namshin Kim | - |
dc.contributor.affiliatedAuthor | Jiwoong Kim | - |
dc.contributor.alternativeName | 민병주 | - |
dc.contributor.alternativeName | 김남신 | - |
dc.contributor.alternativeName | 정태수 | - |
dc.contributor.alternativeName | 김옥화 | - |
dc.contributor.alternativeName | Nishimura | - |
dc.contributor.alternativeName | 정진엽 | - |
dc.contributor.alternativeName | 송해령 | - |
dc.contributor.alternativeName | 김현우 | - |
dc.contributor.alternativeName | 이혜란 | - |
dc.contributor.alternativeName | 김지웅 | - |
dc.contributor.alternativeName | 강태훈 | - |
dc.contributor.alternativeName | 서명의 | - |
dc.contributor.alternativeName | 양산덕 | - |
dc.contributor.alternativeName | 김도환 | - |
dc.contributor.alternativeName | 이승복 | - |
dc.contributor.alternativeName | 김종일 | - |
dc.contributor.alternativeName | 서정선 | - |
dc.contributor.alternativeName | 최지엽 | - |
dc.contributor.alternativeName | 강대희 | - |
dc.contributor.alternativeName | 김동섭 | - |
dc.contributor.alternativeName | 박웅양 | - |
dc.contributor.alternativeName | 조태준 | - |
dc.identifier.bibliographicCitation | American Journal of Human Genetics, vol. 89, no. 6, pp. 760-766 | - |
dc.identifier.doi | 10.1016/j.ajhg.2011.10.015 | - |
dc.description.journalClass | Y | - |
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