Interactions between planar cell polarity genes cause diverse neural tube defects
نویسندگان
چکیده
منابع مشابه
Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice
Neural tube defects (NTDs) are among the commonest and most severe forms of developmental defect, characterized by disruption of the early embryonic events of central nervous system formation. NTDs have long been known to exhibit a strong genetic dependence, yet the identity of the genetic determinants remains largely undiscovered. Initiation of neural tube closure is disrupted in mice homozygo...
متن کاملPlanar cell polarity, ciliogenesis and neural tube defects.
Cilia are microtubule-based protrusions that are found on the surface of most vertebrate cells. Long studied by cell biologists, these organelles have recently caught the attention of developmental biologists and human geneticists. In this review, I will discuss recent findings suggesting a link between cilia and the planar cell polarity signaling cascade. In particular, I will focus on how thi...
متن کاملGenetic evidence in planar cell polarity signaling pathway in human neural tube defects.
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 ...
متن کاملMutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
Neural tube defects (NTDs) are a heterogeneous group of common severe congenital anomalies which affect 1-2 infants per 1000 births. Most genetic and/or environmental factors that contribute to the pathogenesis of human NTDs are unknown. Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs. Vangl genes encode proteins of the plana...
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Craniorachischisis (CRN) is a severe neural tube defect (NTD) resulting from failure to initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the genetic basis of this condition come from several mouse models, which harbor mutations in core members of the planar cell polarity (PCP) signaling pathway. Previous studies of humans with CRN failed to identify mutatio...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2014
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.016758