[This corrects the article DOI: 10.1371/journal.pone.0252786.].

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11637390PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0315965PLOS

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Article Synopsis
  • The study aimed to explore the relationship between clinical features and pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD).
  • Conducted at the University Hospitals Leuven, it included 74 patients with genetically confirmed PCD, focusing on common genes like DNAH11 and DNAH5, and analyzing their genotype, ultrastructural data, and clinical characteristics.
  • Findings indicated that certain clinical features differed significantly between patients with DNAH11 and DNAH5 variants, but other factors like lung function and microbiology did not show significant differences, suggesting some correlations exist in clinical characteristics based on genotypes.
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Objective: Primary ciliary dyskinesia (PCD) is a relatively rare genetic disorder that affects approximately 1 in 20,000 people. Approximately 50 genes are currently known to cause PCD. In light of differences in causative genes and the medical system in Japan compared with other countries, a practical guide was needed for the diagnosis and management of Japanese PCD patients.

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Primary ciliary dyskinesia (PCD) is a genetic disorder associated with recurrent and chronic respiratory infections due to functional defects of motile cilia. In this study, we aimed to elucidate inflammatory and proliferative responses in PCD respiratory epithelium and evaluate the effect of Azithromycin (AZT) on these responses. Airway basal cells (BCs) were isolated from nasal samples of Wild-type (WT) epitope of healthy donors and PCD donors with bi-allelic mutations in DNAH5, DNAH11 and CCDC39.

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Objective: To investigate the association of newly identified genetic variants G>A (rs2285947) of the DNAH11 gene and G>A (rs2494938) of the LRFN2 gene with ovarian and breast cancers in women belonging to Jammu and Kashmir state, where the prevalence of ovarian and breast cancers is remarkably high in the population.

Methods: A candidate gene prospective case-control association study design was adopted, in which 354 cases (219 cases of ovarian cancer and 135 cases of breast cancer) were histopathologically confirmed and 330 healthy controls matched for age and ethnicity were recruited. The details of cases and controls were also recorded in a predesigned pro forma after their written informed consent.

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