Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.N150S
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DNAL1

NM_031427.4:p.N150S

Associated Papers

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Arwas N et al.

European Journal of Pediatrics, 2024

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

Outer-arm dynein light chain LC1 is required for normal motor assembly kinetics, ciliary stability, and motility.

Sakato-Antoku M et al.

Molecular Biology of the Cell, 2023

Regulation of motor activity of ciliary outer-arm dynein by the light chain 1; Implications from the structure of the light chain bound to the microtubule-binding domain of the heavy chain.

Yagi T et al.

Biophysics and Physicobiology, 2023

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Functional architecture of the outer arm dynein conformational switch.

King SM et al.

The Journal of Biological Chemistry, 2012

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M et al.

American Journal of Human Genetics, 2011

Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism.

Sha YW et al.

Asian Journal of Andrology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."