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

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.

Human mutation - 1 Aug 2017

Edelbusch Christine, Cindrić Sandra, Dougherty Gerard W, Loges Niki T, Olbrich Heike, Rivlin Joseph, Wallmeier Julia, Pennekamp Petra, Amirav Israel, Omran Heymut

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and...

Read the complete abstract on PubMed

Topics

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

Share to Axoneme
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ciliary Motility Disorders

Share to Dyneins

Share to Epithelial Cells

Share to Phenotype

Share to Protein Serine-Threonine Kinases

Share to Respiratory Mucosa

Source

Identifiers

PMID: 28543983
DOI: 10.1002/humu.23261

Genes

STK36

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.PMID 28543983Read ↗

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.Semantic proximity Read ↗

Diagnosis and management of primary ciliary dyskinesiaSemantic proximity Read ↗

The RSPH4A Gene in Primary Ciliary Dyskinesia.Semantic proximity Read ↗

STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia.Semantic proximity Read ↗

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder MutationSemantic proximity Read ↗

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.Semantic proximity Read ↗

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.Semantic proximity Read ↗

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.Semantic proximity Read ↗

Primary ciliary dyskinesia: a major player in a bigger gameSemantic proximity Read ↗

Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary DyskinesiaSemantic proximity Read ↗

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.Semantic proximity Read ↗

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener SyndromeSemantic proximity Read ↗

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