Aws
收藏DataCite Commons2021-09-23 更新2025-04-15 收录
下载链接:
https://www.facebase.org/chaise/record/#1/isa:dataset/RID=3-JQMJ
下载链接
链接失效反馈官方服务:
资源简介:
**Abstract(s):** Cleft lip (CL) and CL with cleft palate (CL/P) are part of the same group of birth defects of the primary palate of the face. This class of birth defects is present in 1:700-1:1000 live births and is one of the most common types of human birth defects. Clefts arise when the medial frontal nasal prominences fail to fuse with the lateral nasal and maxillary prominences. In humans, this fusion normally occurs around 6 to 7 weeks of gestation; however, in mouse models, it occurs around mid-gestation—about embryonic day (E) 12.5. Many, if not most, human birth defects have variable penetrance and expressivity. This phenomenon is especially obvious in CL/P malformations. In this paper, the authors developed a new protocol to measure morphology, gene expression, and DNA methylation in the same embryo. They related gene expression in an individual embryo directly to its three-dimensional morphology for the first time. The authors observed that methylation at the retrotransposon relates to Wnt9b expression and morphology. IAP methylation relates to shape of the nasal process in a manner consistent with clefting. Embryos with low IAP methylation exhibit increased among-individual variance in facial shape. **Gene(s):** [Wnt9b](https://www.alliancegenome.org/gene/MGI:1197020): Enables co-receptor binding activity and signaling receptor binding activity. Acts upstream of or within several processes, including Wnt signaling pathway; chordate embryonic development; and kidney development. Predicted to be located in extracellular region. Predicted to be part of Wnt-Frizzled-LRP5/6 complex. Predicted to be active in extracellular space. Is expressed in several structures, including central nervous system; epithelium; genitourinary system; heart; and surface ectoderm. Orthologous to human WNT9B (Wnt family member 9B).
提供机构:
FaceBase (www.facebase.org)
创建时间:
2021-09-23



