27 results on '"Loges, Niki Tomas"'
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2. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
3. Caffeine Citrate Increases Ciliary Beat Frequency in Human Respiratory Epithelial Cells
4. Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil
5. Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure
6. Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer
7. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
8. Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility
9. SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
10. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
11. RPGR mutations might cause reduced orientation of respiratory cilia
12. Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
13. SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
14. Primary Ciliary Dyskinesia Associated With Normal Axoneme Ultrastructure Is Caused by DNAH11 Mutations
15. DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
16. Genetic profile, nasal Nitric Oxide and age at diagnosis in 60 Danish PCD patients
17. Primary ciliary dyskinesia diagnosis in adult patients with bronchiectasis in Sao Paulo, Brazil.
18. Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia
19. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects
20. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
21. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
22. RPGRmutations might cause reduced orientation of respiratory cilia
23. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
24. DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
25. Axonemal Localization of the Dynein Component DNAH5 Is Not Altered in Secondary Ciliary Dyskinesia
26. Pathogenic variants in CFAP46 , CFAP54 , CFAP74 , and CFAP221 cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus.
27. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
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