ArticleFrontiers in genetics2025
LRRC56 deficiency cause motile ciliopathies in humans and mice.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
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6 authors.
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Abstract
Introduction: Motile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Although nearly 53 genes have been implicated, the genetic etiology remains unresolved in approximately 30% of cases, and the regulatory mechanisms of motile ciliogenesis are still incompletely understood. Methods: Whole-exome sequencing was employed in a patient with laterality defects and recurrent pulmonary infections. Nasal epithelial brushings underwent high-speed video microscopy (HSVM) to evaluate ciliary beat pattern, and conventional transmission electron microscopy (TEM) to assess ultrastructure. CRISPR/Cas9 technology was harnessed to generate precise Results: Whole exome sequencing identified a novel homozygous frameshift variant in Discussion: Our findings establish
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