Associated Papers
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.
Long Y et al.
Frontiers in Genetics, 2025
The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells.
Earwood R et al.
The Journal of Biological Chemistry, 2024
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L et al.
Journal of Medical Genetics, 2024
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Wang Y et al.
Journal of Assisted Reproduction and Genetics, 2020
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C et al.
Nature Communications, 2017
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