ArticleJournal of assisted reproduction and genetics2026
Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary ciliary dyskinesia (PCD) is a rare genetic heterogeneous disorder mainly characterized by impaired mucociliar clearance and chronic respiratory symptoms. Although DNAH5 is commonly implicated in PCD, several DNAH5 variants remain unclassified.
methodsThe proband was studied by high-speed videomicroscopy, transmission electron microscopy, whole exome sequencing and immunofluorescence. Protein structural analysis was performed through structural models obtained by X-ray crystallography and cryo-electron microscopy. The family was studied by Sanger sequencing of the variants, high-speed videomicroscopy and immunofluorescence.
resultsThe patient carry, in heterozygosity, the DNAH5 c.5290 T > C p.(Ser1764Pro) missense variant of uncertain significance and the pathogenic truncated variant DNAH5 c.4237C > T p.(Gln1413*). He was clinically diagnosed in adulthood with PCD, confirmed following nasal nitric oxide measurement, high-speed videomicroscopy and transmission electron microscopy, all of which revealed hallmark PCD defects, with decreased nasal nitric oxide levels (30 nl/min) and ciliary beating frequency (0.66 Hz), a dyskinetic ciliary beating pattern (62.5% total immotility) and a class-1 ultrastructure. Immunofluorescence analysis demonstrated reduced DNAH5 expression, and protein structural models predicted that the variant of uncertain significance causes an unstable protein. Family analyses confirmed a trans-inheritance and uncovered a brother with a similar PCD phenotype, the same two variants and similar reduced DNAH5 expression.
conclusionsResults support a pathogenic role for the c.5290 T > C p.(Ser1764Pro) variant and elucidate the effects of the other variant. These results underscore the importance of integrating clinical, ultrastructural, molecular and protein expression analyses to clarify and contribute to PCD diagnosis, besides now serving as potential markers for diagnostics and targeted therapies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.