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Distinct spectrum of ciliopathic diseases results from de novoTUBB4B variants through differential effects on organelle-specific microtubules

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NIAID Data Ecosystem2026-05-02 收录
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We establish a necessary and non-redundant function for TUBB4B in building centrioles and axonemes of multiciliated cells placing ciliopathies more broadly into human tubulinopathies. Overall design: RNA-seq data of primary cultured nasal epithelial cells from biopsies of controls and patients carrying p.P259L and pP358S variants of TUBB4B

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2024-08-10
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