SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

• Published in: American journal of respiratory cell and molecular biology Vol. 62; no. 3; pp. 382 - 396
• Main Authors: Cindrić, Sandra, Dougherty, Gerard W, Olbrich, Heike, Hjeij, Rim, Loges, Niki Tomas, Amirav, Israel, Philipsen, Maria C, Marthin, June K, Nielsen, Kim G, Sutharsan, Sivagurunathan, Raidt, Johanna, Werner, Claudius, Pennekamp, Petra, Dworniczak, Bernd, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: United States American Thoracic Society 01.03.2020
• Subjects: Allergic diseases; Cilia; Genetic screening; Genetics; Lung diseases; Medical diagnosis; Mutants; Nitric oxide; Primary ciliary dyskinesia; Proteins; Respiratory tract diseases; Transmission electron microscopy; Ultrastructure; HYDIN2; situs solitus; test sensitivity and specificity; cilia; immunofluorescence microscopy analysis

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide measurement, analysis of ciliary beating, transmission electron microscopy (TEM), and/or genetic testing. In most genetic PCD variants, laterality...