deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome)删除老鼠porcn导致多个发育缺陷和模型人类焦点真皮发育不全(戈尔茨综合征).pdfVIP

下载本文档

16
0
约 12页
2017-09-12 发布于上海
举报
版权申诉

deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome)删除老鼠porcn导致多个发育缺陷和模型人类焦点真皮发育不全(戈尔茨综合征).pdf

1、有哪些信誉好的足球投注网站（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。。
2、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
3、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
4、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
5、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
6、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
7、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome)删除老鼠porcn导致多个发育缺陷和模型人类焦点真皮发育不全(戈尔茨综合征)

Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome) 1 2,5 3 4,7 1 1 Wei Liu , Timothy M. Shaver , Alfred Balasa , M. Cecilia Ljungberg , Xiaoling Wang , Shu Wen , Hoang Nguyen2,5, Ignatia B. Van den Veyver1,6,7* 1 Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, United States of America, 2 Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America, 3 Pediatrics, USDA/ARS Children’s Nutrition Research Center, Houston, Texas, United States of America, 4 Pediatrics- Neurology, Baylor College of Medicine, Houston, Texas, United States of America, 5 Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, Texas, United States of America, 6 Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, 7 The Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas, United States of America Abstract Background: Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated