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- W1996212779 abstract "DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. This phenotype was confirmed independently in mice with a Dyx1c1 c.T2A start-codon mutation recovered from an N-ethyl-N-nitrosourea (ENU) mutagenesis screen. Morpholinos targeting dyx1c1 in zebrafish also caused laterality and ciliary motility defects. In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD. Ultrastructural and immunofluorescence analyses of DYX1C1-mutant motile cilia in mice and humans showed disruptions of outer and inner dynein arms (ODAs and IDAs, respectively). DYX1C1 localizes to the cytoplasm of respiratory epithelial cells, its interactome is enriched for molecular chaperones, and it interacts with the cytoplasmic ODA and IDA assembly factor DNAAF2 (KTU). Thus, we propose that DYX1C1 is a newly identified dynein axonemal assembly factor (DNAAF4)." @default.
- W1996212779 created "2016-06-24" @default.
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- W1996212779 date "2013-07-21" @default.
- W1996212779 modified "2023-10-16" @default.
- W1996212779 title "DYX1C1 is required for axonemal dynein assembly and ciliary motility" @default.
- W1996212779 cites W1542932778 @default.
- W1996212779 cites W1967087018 @default.
- W1996212779 cites W1973673010 @default.
- W1996212779 cites W1974723367 @default.
- W1996212779 cites W1977301516 @default.
- W1996212779 cites W1979342086 @default.
- W1996212779 cites W1980442980 @default.
- W1996212779 cites W1982168739 @default.
- W1996212779 cites W1982567857 @default.
- W1996212779 cites W1983831423 @default.
- W1996212779 cites W1986109489 @default.
- W1996212779 cites W1986111043 @default.
- W1996212779 cites W1986812962 @default.
- W1996212779 cites W1987054019 @default.
- W1996212779 cites W1987959828 @default.
- W1996212779 cites W1990092024 @default.
- W1996212779 cites W2002112169 @default.
- W1996212779 cites W2004293751 @default.
- W1996212779 cites W2006138810 @default.
- W1996212779 cites W2009954049 @default.
- W1996212779 cites W2011697505 @default.
- W1996212779 cites W2024983197 @default.
- W1996212779 cites W2027211393 @default.
- W1996212779 cites W2028175803 @default.
- W1996212779 cites W2028183762 @default.
- W1996212779 cites W2028394713 @default.
- W1996212779 cites W2029879349 @default.
- W1996212779 cites W2040512855 @default.
- W1996212779 cites W2041085963 @default.
- W1996212779 cites W2041995095 @default.
- W1996212779 cites W2054839912 @default.
- W1996212779 cites W2055280361 @default.
- W1996212779 cites W2063531928 @default.
- W1996212779 cites W2064659330 @default.
- W1996212779 cites W2071206111 @default.
- W1996212779 cites W2075980633 @default.
- W1996212779 cites W2079880214 @default.
- W1996212779 cites W2080931209 @default.
- W1996212779 cites W2082593163 @default.
- W1996212779 cites W2082955515 @default.
- W1996212779 cites W2103968215 @default.
- W1996212779 cites W2105898316 @default.
- W1996212779 cites W2105980845 @default.
- W1996212779 cites W2107263026 @default.
- W1996212779 cites W2116665359 @default.
- W1996212779 cites W2120455375 @default.
- W1996212779 cites W2124713008 @default.