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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
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
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- American Journal of Respiratory Cell & Molecular Biology, 2016, v. 55, n. 2, p. 213, doi. 10.1165/rcmb.2015-0353OC
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- Publication type:
- Article
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2024, v. 210, n. 1, p. 63, doi. 10.1164/rccm.202308-1370OC
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- Article
Ciliary function and motor protein composition of human fallopian tubes.
- Published in:
- 2015
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- Publication type:
- journal article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
- Published in:
- Molecular Human Reproduction, 2021, v. 27, n. 3, p. 1, doi. 10.1093/molehr/gaab009
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- Publication type:
- 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
Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.
- Published in:
- Respiration, 2018, v. 97, n. 1, p. 60, doi. 10.1159/000493323
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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
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
- Published in:
- Nature Genetics, 2013, v. 45, n. 9, p. 995, doi. 10.1038/ng.2707
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- Publication type:
- Article
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19113-0
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- Publication type:
- Article
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 3, p. 409, doi. 10.1165/rcmb.2022-0032le
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- Publication type:
- Article
Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.
- Published in:
- Nature Cell Biology, 2009, v. 11, n. 4, p. 443, doi. 10.1038/ncb1851
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- Publication type:
- Article
CiliaCarta: An integrated and validated compendium of ciliary genes.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216705
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- Publication type:
- Article
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
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- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007602
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- Publication type:
- Article
Mutation of serine/threonine protein kinase 36 ( STK36) causes primary ciliary dyskinesia with a central pair defect.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 964, doi. 10.1002/humu.23261
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- Publication type:
- Article
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
- Published in:
- Human Mutation, 2016, v. 37, n. 4, p. 396, doi. 10.1002/humu.22957
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- Publication type:
- Article