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Cell Rep：小颅畸形症可能与WDR62基因有关

2014-01-19 MedSci MedSci原创

小颅畸形症WDR62
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中科院遗传与发育生物学研究所研究人员在WDR62在大脑发育过程中的功能和相关机制研究方面获进展，相关成果日前发表于《细胞》子刊《细胞报告》(Cell Rep)。 WDR62基因突变被认为与小颅畸形症和智力低下密切相关。同时，WDR62基因突变已被公认为造成小颅畸形症的第二大主因。但是，目前学界对有关WDR62的大脑发育过程中的功能和作用机制，以及WDR62突变如何导致小颅畸形症的致病机制

中科院遗传与发育生物学研究所研究人员在WDR62在大脑发育过程中的功能和相关机制研究方面获进展，相关成果日前发表于《细胞》子刊《细胞报告》(Cell Rep)。
 
WDR62基因突变被认为与小颅畸形症和智力低下密切相关。同时，WDR62基因突变已被公认为造成小颅畸形症的第二大主因。但是，目前学界对有关WDR62的大脑发育过程中的功能和作用机制，以及WDR62突变如何导致小颅畸形症的致病机制尚不清楚。
 
小颅畸形症是一种原发性小头畸形，患者个体出生时表现为头围小和智力障碍，而无其他神经生物学异常。经过研究，遗传与发育生物学研究所许执恒课题组发现，WDR62调控JNK信号通路并位于JNK1上游，WDR62通过调控JNK1的活性参与脑发育过程中神经干细胞发育。进一步研究表明，WDR62和JNK1通过调控神经干细胞中纺锤体的形成来影响神经干细胞的自我更新与对称性分裂。

原始出处：
Xu D, Zhang F, Wang Y, Sun Y, Xu Z.Microcephaly-Associated Protein WDR62 Regulates Neurogenesis through JNK1 in the Developing Neocortex. Cell Rep. 2013 Dec 31. pii: S2211-1247(13)00761-4.

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#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1868755, encodeId=9cda1868e55d4, content=<a href='/topic/show?id=fd764459a8' target=_blank style='color:#2F92EE;'>#Cell#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4459, encryptionId=fd764459a8, topicName=Cell)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=524d95, createdName=zhaozhouchifen, createdTime=Tue May 27 11:56:00 CST 2014, time=2014-05-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1958996, encodeId=1425195899601, content=<a href='/topic/show?id=dbe6445416' target=_blank style='color:#2F92EE;'>#CEL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4454, encryptionId=dbe6445416, topicName=CEL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c3ff68, createdName=维他命, createdTime=Tue Dec 23 17:56:00 CST 2014, time=2014-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362102, encodeId=7eef1362102d9, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Tue Jan 21 13:56:00 CST 2014, time=2014-01-21, status=1, ipAttribution=)]
    2014-05-27 zhaozhouchifen

    #Cell#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1868755, encodeId=9cda1868e55d4, content=<a href='/topic/show?id=fd764459a8' target=_blank style='color:#2F92EE;'>#Cell#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4459, encryptionId=fd764459a8, topicName=Cell)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=524d95, createdName=zhaozhouchifen, createdTime=Tue May 27 11:56:00 CST 2014, time=2014-05-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1958996, encodeId=1425195899601, content=<a href='/topic/show?id=dbe6445416' target=_blank style='color:#2F92EE;'>#CEL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4454, encryptionId=dbe6445416, topicName=CEL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c3ff68, createdName=维他命, createdTime=Tue Dec 23 17:56:00 CST 2014, time=2014-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362102, encodeId=7eef1362102d9, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Tue Jan 21 13:56:00 CST 2014, time=2014-01-21, status=1, ipAttribution=)]
    2014-12-23 维他命

    #CEL#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1868755, encodeId=9cda1868e55d4, content=<a href='/topic/show?id=fd764459a8' target=_blank style='color:#2F92EE;'>#Cell#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4459, encryptionId=fd764459a8, topicName=Cell)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=524d95, createdName=zhaozhouchifen, createdTime=Tue May 27 11:56:00 CST 2014, time=2014-05-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1958996, encodeId=1425195899601, content=<a href='/topic/show?id=dbe6445416' target=_blank style='color:#2F92EE;'>#CEL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=4454, encryptionId=dbe6445416, topicName=CEL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c3ff68, createdName=维他命, createdTime=Tue Dec 23 17:56:00 CST 2014, time=2014-12-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362102, encodeId=7eef1362102d9, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Tue Jan 21 13:56:00 CST 2014, time=2014-01-21, status=1, ipAttribution=)]
    2014-01-21 wushaoling

    #畸形#

    0