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Genetic evidence in planar cell polarity signaling pathway in human neural tube defects
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《医学前沿(英文)》 2014年 第8卷 第1期 页码 68-78 doi: 10.1007/s11684-014-0308-4
Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.
关键词: planar cell polarity neural tube defects rare mutations
Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice
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《医学前沿(英文)》 2016年 第10卷 第4期 页码 481-489 doi: 10.1007/s11684-016-0494-3
The tumor suppressor gene liver kinase B1 (LKB1), also called STK11, encodes a serine/threonine kinase. LKB1 plays crucial roles in cell differentiation, proliferation, and polarity. In this study, LKB1 conditional knockout mice (LKB1Pax2 CKO mice) were generated using Pax2-Cre mice to investigate the function of LKB1 in inner ear hair cells during early embryonic period. LKB1Pax2 CKO mice died perinatally. Immunofluorescence and scanning electron microscopy revealed that stereociliary bundles in LKB1Pax2 CKO mice were clustered and misoriented, respectively. Moreover, ectopic distribution of kinocilium bundles resulting from abnormal migration of kinocilium was observed in the mutant mice. The orientation of stereociliary bundles and the migration of kinocilia are critical indicators of planar cell polarity (PCP) of hair cells. LKB1 deficiency in LKB1Pax2 CKO mice thus disrupted hair cell planar polarity during embryonic development. Our results suggest that LKB1 is required in PCP formation in cochlear hair cells in mice.
关键词: LKB1 stereociliary bundles kinocilium planar cell polarity hearing mice
YU Chunyan, QUAN Xie, OU Xiaoxia, CHEN Shuo
《环境科学与工程前沿(英文)》 2008年 第2卷 第3期 页码 291-296 doi: 10.1007/s11783-008-0049-1
关键词: polarity photodegradation different absorption UV-vis absorption FTIR
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