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Article

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

American journal of human genetics - 5 Oct 2012

Olbrich Heike, Schmidts Miriam, Werner Claudius, Onoufriadis Alexandros, Loges Niki T, Raidt Johanna, Banki Nora Fanni, Shoemark Amelia, Burgoyne Tom, Al Turki Saeed, Hurles Matthew E, Köhler Gabriele, Schroeder Josef, Nürnberg Gudrun, Nürnberg Peter, Chung Eddie M K, Reinhardt Richard, Marthin June K, Nielsen Kim G, Mitchison Hannah M, Omran Heymut

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder characterized by defective cilia and flagella motility. Chronic destructive-airway disease is caused by abnormal respiratory-tract mucociliary clearance. Abnormal propulsion of sperm flagella contributes to male in...

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Source

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Identifiers

PMID: 23022101
DOI: 10.1016/j.ajhg.2012.08.016
PMCID: PMC3484652

Genes

HYDIN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23022101-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.PMID 23022101Read ↗

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletion in primary ciliary dyskinesiaSemantic proximity Read ↗

<i>HYDIN</i>variants cause primary ciliary dyskinesia in the Finnish populationSemantic proximity Read ↗

SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia DiagnosticsSemantic proximity Read ↗

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.Semantic proximity Read ↗

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.Semantic proximity Read ↗

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesSemantic proximity Read ↗

Heterozygous cis HYDIN mutations cause primary ciliary dyskinesia.Semantic proximity Read ↗

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.Semantic proximity Read ↗

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesiaSemantic proximity Read ↗

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesiaSemantic proximity Read ↗

Heterotaxy Is Associated with Previously Unrecognised Ciliary Defects Independent of Primary Ciliary DyskinesiaSemantic proximity Read ↗

Primary ciliary dyskinesia: Clinical presentation, diagnosis and geneticsSemantic proximity Read ↗

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