The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
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DOI：
10.1002/ar.23692
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发表时间：
2018-01
期刊：
影响因子：
--
通讯作者：
Zhang H
中科院分区：
文献类型：
--
作者：
Kwon EK;Louie K;Kulkarni A;Yatabe M;Ruellas ACO;Snider TN;Mochida Y;Cevidanes LHS;Mishina Y;Zhang H
EvC 综合征是一种常染色体隐性软骨发育不良。之前的病例研究表明，除了侏儒症和牙齿异常之外，患者还存在颅面发育异常。为了研究 EvC 患者颅面发育如何受到影响，通过对照小鼠、Evc2 整体突变小鼠和 Evc2 神经嵴特异性突变小鼠的显微 CT 扫描生成了表面模型。将解剖标志放置在表面模型上以评估 Evc2 突变体的形态异常。通过分析标志之间的线性和角度测量，我们发现 Evc2 整体突变体具有较小的整体头骨、较短的鼻骨、较短的额骨和较短的颅底。通过将神经嵴特异性 Evc2 突变体与对照小鼠进行比较，我们证明中面部区域内的异常并不是由这些区域内的 Evc2 突变引起的。此外，我们还发现 Evc2 突变体从头骨前部到后部的各个级别的长宽比不成比例。总体而言，本研究对 EvC 综合征的颅面形态异常进行了更全面的分析，并提供了发育见解，以了解神经嵴细胞内 Evc2 突变对颅骨畸形多个方面的影响。
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants. Through analyzing the linear and angular measurements between landmarks, we identified a smaller overall skull, shorter nasal bone, shorter frontal bone, and shorter cranial base in the Evc2 global mutants. By comparing neural crest-specific Evc2 mutants with control mice, we demonstrated that the abnormalities within the mid-facial regions are not accounted for by the Evc2 mutation within these regions. Additionally, we also identified disproportionate length to width ratios in the Evc2 mutants at all levels from anterior to posterior of the skull. Overall, this study demonstrates a more comprehensive analysis on the craniofacial morphological abnormalities in EvC syndrome and provides the developmental insight to appreciate the impact of Evc2 mutation within the neural crest cells on multiple aspects of skull deformities.
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DOI：
10.1002/ar.23353
发表时间：
2016-08
期刊：
Anatomical record (Hoboken, N.J. : 2007)
影响因子：
--
作者：
Badri MK;Zhang H;Ohyama Y;Venkitapathi S;Kamiya N;Takeda H;Ray M;Scott G;Tsuji T;Kunieda T;Mishina Y;Mochida Y
通讯作者：
Mochida Y
影响因子：
3.7
作者：
Murgiano L;Jagannathan V;Benazzi C;Bolcato M;Brunetti B;Muscatello LV;Dittmer K;Piffer C;Gentile A;Drögemüller C
通讯作者：
Drögemüller C
影响因子：
4.1
作者：
Pacheco, Maria;Valencia, Maria;Ruiz-Perez, Victor L.
通讯作者：
Ruiz-Perez, Victor L.
影响因子：
2.7
作者：
Yamauchi, Y;Abe, K;Yamamura, K
通讯作者：
Yamamura, K
影响因子：
9.8
作者：
Ruiz-Perez, VL;Tompson, SWJ;Goodship, JA
通讯作者：
Goodship, JA