Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia
Consistent with the IF finding suggesting a ciliogenesis defect, further genetic analysis revealed biallelic pathogenic variants in CCNO in the affected individual. The absence of DNAH5 in the respiratory epithelial cells of an individual carrying heterozygous pathogenic splice variants in DNAH5 suggests the need for further genetic analysis. This study underscores the importance of international collaboration in diagnosing rare diseases like PCD.
Authors
- Heymut Omran (ORCID: https://orcid.org/0000-0003-0282-6765)
- M. Kalyoncu
- Merve Selçuk (ORCID: https://orcid.org/0000-0002-2146-3966)
- Rim Hjeij (ORCID: https://orcid.org/0000-0003-1464-7289)
- Yasemi̇n Gökdemi̇r (ORCID: https://orcid.org/0000-0002-0853-7932)
- Mürüvvet Yanaz (ORCID: https://orcid.org/0000-0002-1591-5735)
- Aynur Gulieva
- Ela Erdem Eralp (ORCID: https://orcid.org/0000-0001-8829-3431)
- Bulent Taner Karadag (ORCID: https://orcid.org/0000-0003-0605-8871)
- Pınar Ergenekon (ORCID: https://orcid.org/0000-0003-0228-9832)
- Neval Meti̇n Çakar (ORCID: https://orcid.org/0000-0001-7943-0967)
- S. Karabulut
Institutions
- University Hospital Münster (DE)
- Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi (TR)
- Maltepe University (TR)
- Marmara University (TR)
Publication Details
- Journal
- Frontiers in Molecular Biosciences
- Published
- 2025-03-20
- DOI
- https://doi.org/10.3389/fmolb.2025.1547152
- Citations
- 1
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 1.52