Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa

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• 作者：Takako Sasaki^a ; ^b ; ^{tsasaki@oita-u.ac.jp} ; Franz-Georg Hanisch^c ; Rainer Deutzmann^d ; Lynn Y. Sakai^e ; Tetsushi Sakuma^f ; Tatsuo Miyamoto^g ; Takashi Yamamoto^f ; Ewald Hannappel^h ; Mon-Li Chuⁱ ; Harald Lanig^j ; Klaus von der Mark^a
• 关键词：cbEGF-like module ; calcium-binding epidermal growth factor-like module ; LTBP ; latent TGF-β binding protein ; LAP ; latency associated protein ; LOX ; lysyl oxidase ; LOXL ; lysyl oxidase like protein ; pp ; propeptide ; MD ; Molecular Dynamic ; rF11 ; the N-terminal half of recombinant fibrillin-1 ; RPE cells ; retinal pigment epithelial cells ; TALEN ; transcription activator-like effector nuclease
• 刊名：Matrix Biology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：56
• 期：Complete
• 页码：132-149
• 全文大小：1841 K
• 卷排序：56

文摘

The consequence of fibulin-4 mutations were analyzed at molecular level Each missense mutation affects fibulin-4 functions at different extent This study may contribute to our understanding of the pathways involved in the genotype-phenotype relation of the fibulin-4 mutations