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- W2023366075 abstract "The primary cilium originates from the mother centriole and participates in critical functions during organogenesis. Defects in cilia biogenesis or function lead to pleiotropic phenotypes. Mutations in centrosome-cilia gene CC2D2A result in Meckel and Joubert syndromes. Here we generate a Cc2d2a(-/-) mouse that recapitulates features of Meckel syndrome including embryonic lethality and multiorgan defects. Cilia are absent in Cc2d2a(-/-) embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a(-/-) mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles and pericentriolar proteins are detected. Odf2, associated with subdistal appendages, is absent and ninein is reduced in mutant MEFs. In Cc2d2a(-/-) MEFs, subdistal appendages are lacking or abnormal by transmission electron microscopy. Consistent with this, CC2D2A localizes to subdistal appendages by immuno-EM in wild-type cells. We conclude that CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis." @default.
- W2023366075 created "2016-06-24" @default.
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- W2023366075 date "2014-06-20" @default.
- W2023366075 modified "2023-10-14" @default.
- W2023366075 title "Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis" @default.
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- W2023366075 cites W1985225356 @default.
- W2023366075 cites W1989377548 @default.
- W2023366075 cites W1993834457 @default.
- W2023366075 cites W1994975332 @default.
- W2023366075 cites W1995465012 @default.
- W2023366075 cites W1998915457 @default.
- W2023366075 cites W2001947684 @default.
- W2023366075 cites W2002391499 @default.
- W2023366075 cites W2004491021 @default.
- W2023366075 cites W2004714825 @default.
- W2023366075 cites W2007764395 @default.
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- W2023366075 cites W2030645367 @default.
- W2023366075 cites W2037153030 @default.
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- W2023366075 cites W2046008146 @default.
- W2023366075 cites W2055792519 @default.
- W2023366075 cites W2061842603 @default.
- W2023366075 cites W2067914995 @default.
- W2023366075 cites W2072316722 @default.
- W2023366075 cites W2074458710 @default.
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- W2023366075 cites W2124831548 @default.
- W2023366075 cites W2129394277 @default.
- W2023366075 cites W2130801954 @default.
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- W2023366075 doi "https://doi.org/10.1038/ncomms5207" @default.
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