Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Motile and non-motile cilia in human pathology: from function to phenotypes.

The Journal of pathology - 1 Jan 2017

Mitchison Hannah M, Valente Enza Maria

Abstract excerpt

Ciliopathies are inherited human disorders caused by both motile and non-motile cilia dysfunction that form an important and rapidly expanding disease category. Ciliopathies are complex conditions to diagnose, being multisystem disorders characterized by extensive genetic heterogeneity and clinical variability with high levels of lethality. There is marked phenotypic overlap among distinct ciliopathy syndromes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cilia
Share to Ciliopathies
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Mutation

Share to Neurons

Source

Identifiers

PMID: 27859258
DOI: 10.1002/path.4843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Motile and non-motile cilia in human pathology: from function to phenotypes.PMID 27859258Read ↗

Making sense of cilia in disease: the human ciliopathies.Semantic proximity Read ↗

The nonmotile ciliopathies.Semantic proximity Read ↗

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies.Semantic proximity Read ↗

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.Semantic proximity Read ↗

The ciliopathies: an emerging class of human genetic disorders.Semantic proximity Read ↗

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.Semantic proximity Read ↗

Motile cilia and airway disease.Semantic proximity Read ↗

CiliaMiner: an integrated database for Ciliopathy Genes and CiliopathiesSemantic proximity Read ↗

To beat, or not to beat, that is question! The spectrum of ciliopathies.Semantic proximity Read ↗

Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview.Semantic proximity Read ↗

Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric DisordersSemantic proximity Read ↗

The primary cilium as a cellular signaling center: lessons from disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.