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Garbes, L.,Kim, K.,Riesz, A.,Hoyer-Kuhn, H.,Beleggia, F.,Bevot, A.,Kim, M.,Huh, Y.,Kweon, H.S.,Savarirayan, R.,Amor, D.,Kakadia, Purvi M.,Lindig, T.,Kagan, K.,Becker, J.,Boyadjiev, Simeon A.,Wollnik, University of Chicago Press [etc.] 2015 American journal of human genetics Vol.96 No.3
As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII complex involved in protein export from the ER: the truncating mutation c.613C>T (p.Gln205<SUP>*</SUP>) and the missense mutations c.3044C>T (p.Ser1015Phe, located in a cargo-binding pocket) and c.2933A>C (p.Gln978Pro, located in the gelsolin-like domain). Three individuals from two families affected by a similar skeletal phenotype were each compound heterozygous for two of these mutant alleles, with c.3044C>T being embedded in a 14 Mb founder haplotype shared by all three. The affected individuals were a 7-year-old boy with a phenotype most closely resembling Cole-Carpenter syndrome and two fetuses initially suspected to have a severe type of osteogenesis imperfecta. All three displayed a severely disturbed ossification of the skull and multiple fractures with prenatal onset. The 7-year-old boy had short stature and craniofacial malformations including macrocephaly, midface hypoplasia, micrognathia, frontal bossing, and down-slanting palpebral fissures. Electron and immunofluorescence microscopy of skin fibroblasts of this individual revealed that ER export of procollagen was inefficient and that ER tubules were dilated, faithfully reproducing the cellular phenotype of individuals with cranio-lentico-sutural dysplasia (CLSD). CLSD is caused by SEC23A mutations and displays a largely overlapping craniofacial phenotype, but it is not characterized by generalized bone fragility and presented with cataracts in the original family described. The cellular and morphological phenotypes we report are in concordance with the phenotypes described for the Sec24d-deficient fish mutants vbi (medaka) and bulldog (zebrafish).
내진성능이 강화된 Partial PC벽체(PPW)에 대한 연구
이완훈 ( Lee Wan Hoon ),임갑주 ( Yim Garb Joo ) 한국구조물진단유지관리공학회 2018 한국구조물진단유지관리공학회 학술발표대회 논문집 Vol.22 No.2
Recently, the use of PC(Precast Concrete) structure is increasing due to quality assurance and process shortening. In this study, we proposed a PPC method that improved the seismic performance of Half PC method by connecting the cast iron of PC wall to the foundation anchor using sleeve. In addition, the inner and outer PC walls are fabricated as one body, and the PPW method suitable for the high wall structure is proposed.
이완훈 ( Lee Wan-hoon ),임갑주 ( Yim Garb-joo ) 한국구조물진단유지관리공학회 2019 한국구조물진단유지관리공학회 학술발표대회 논문집 Vol.23 No.2
최근에는 건설 시장에서는 숙련노동자의 부족, 작업환경 개선, 시공 안정성 확보 그리고 구조물의 내진성능 확보 등을 위하여 PC 구조물의 선호도가 증가하고 있지만 PC 제품을 벽체 구조에 적용하기 위해서는 유효두께의 확대 기술, PC 패널의 강결 접합 기술 그리고 시공방법의 개발이 요구되고 있으므로 본 연구에서는.JPC 더블월 공법을 개발하여 PC 벽체의 단면 효율성을 개선하였으며, PC 부재로 단일 구조물을 형성하여 일체 구조물로 거동할 수 있도록 시공하기 위한 JPC 공법을 제시하였다.