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Article

A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient

22 Jul 2021

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34674941
DOI: 10.1016/j.rbmo.2021.07.005

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Click a neighbor to travelStep 1 · 12 closest

A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patientPMID 34674941Read ↗

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener SyndromeSemantic proximity Read ↗

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.Semantic proximity Read ↗

Primary ciliary dyskinesia with CCDC39 variants displaying specific ciliary ultrastructure and movement concordant with the genotype: A case report.Semantic proximity Read ↗

Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia.Semantic proximity Read ↗

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.Semantic proximity Read ↗

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary UltrastructureSemantic proximity Read ↗

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.Semantic proximity Read ↗

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal diseaseSemantic proximity Read ↗

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.Semantic proximity Read ↗

The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variantsSemantic proximity Read ↗

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical PracticeSemantic proximity Read ↗

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.Semantic proximity Read ↗

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