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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, S.Y.,Bae, J.S.,Kim, N.K.D.,Forzano, F.,Girisha, K.M.,Baldo, C.,Faravelli, F.,Cho, T.J.,Kim, D.,Lee, K.Y.,Ikegawa, S.,Shim, J.S.,Ko, A.R.,Miyake, N.,Nishimura, G.,Superti-Furga, A.,Spranger, J.,Ki University of Chicago Press [etc.] 2016 American journal of human genetics Vol.98 No.6
<P>Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-beta) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-beta. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define 'XLR SEMD, BGN type'' as a nosologic entity.</P>
Good Scalability of Study of Spin Torque Transfer MRAMs with Perpendicular Magnetization MTJs
H. Yoda,T. Kishi,T. Nagase,M. Yoshikawa,E. Kitagawa,T. Daibou,K. Nishiyama,T. Kai,N. Shimomura,M. Nakayama,M. Amano,H. Aikawa,S. Takahashi,S. Ikegawa,M. Nagamine,J. Ozeki,S. Yuasa,Y. Nakatani,M. Oogan 한국자기학회 2008 한국자기학회 학술연구발표회 논문개요집 Vol.- No.-