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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 14, p. 1200, doi. 10.3390/cells13141200
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- Publication type:
- Article
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 3, p. 382, doi. 10.1165/rcmb.2019-0086OC
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- Publication type:
- Article
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
- Published in:
- 2022
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- Publication type:
- journal article
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4418, doi. 10.1038/ncomms5418
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- Publication type:
- Article
RPGR mutations might cause reduced orientation of respiratory cilia.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 4, p. 352, doi. 10.1002/ppul.22632
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- Publication type:
- Article
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 646, doi. 10.1038/ng.2961
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- Publication type:
- Article
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009306
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- Publication type:
- Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656
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- Publication type:
- Article
Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 307, doi. 10.1002/humu.22738
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- Publication type:
- Article
DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 2, p. 120, doi. 10.1164/rccm.200601-084OC
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- Publication type:
- Article