{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The JHY protein (formerly known as 4931429I11Rik) appears to be essential for the proper development and function of ependymal cells, which line the brain’s ventricular system and regulate cerebrospinal fluid (CSF) flow. Disruption of JHY expression in mouse models, as seen in JhylacZ mutants, leads to congenital hydrocephalus. This condition is characterized by abnormal ependymal cell differentiation—with cells retaining a disorganized, multi-layered (radial glial-like) morphology—and severe defects in ciliogenesis. In these mutants, the motile cilia not only are reduced in number and function but also display aberrant axonemal organization (showing microtubule configurations such as 9+0 or 8+2 instead of the normal 9+2 pattern). Moreover, alterations in cell–cell adhesion, particularly through disrupted N-cadherin localization at adherens junctions, further hinder proper ependymal differentiation. These findings underscore that JHY plays a critical role in coordinating the formation and polar organization of ependymal motile cilia as well as in driving the maturation of ependymal cells, thereby ensuring normal CSF homeostasis and preventing hydrocephalus."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Oliver K Appelbe, Bryan Bollman, Ali Attarwala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2013.07.003"}], "href": "https://doi.org/10.1016/j.ydbio.2013.07.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23906841"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23906841"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hilmarie Muniz-Talavera, Jennifer V Schmidt "}, {"type": "b", "children": [{"type": "t", "text": "The mouse Jhy gene regulates ependymal cell differentiation and ciliogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0184957"}], "href": "https://doi.org/10.1371/journal.pone.0184957"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29211732"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29211732"}]}]}]}