ReviewJournal of medical genetics2015
Recent advances in primary ciliary dyskinesia genetics.
Review in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Pediatric research · 2017Pooled it
- CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.The American journal of case reports · 2025Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Formation and function of multiciliated cells.The Journal of cell biology · 2024Review
- Human Genetics of Defects of Situs.Advances in experimental medicine and biology · 2024Review
- Article
- Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Frontiers of medicine · 2023Article
- First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.Pediatric pulmonology · 2023Article
- Review
- Article
- Airway surface hyperviscosity and defective mucociliary transport by IL-17/TNF-α are corrected by β-adrenergic stimulus.JCI insight · 2022Article
- Article
- Perspectives for Primary Ciliary Dyskinesia.International journal of molecular sciences · 2022Article
- Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn.Cells · 2021Review
- A Study on the Genetics of Primary Ciliary Dyskinesia.Journal of clinical medicine · 2021Article
- Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Article
- Structural insights into the cause of humanMolecular biology of the cell · 2021Article
- Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking theInternational journal of molecular sciences · 2021Article
- The genetic architecture of morphological abnormalities of the sperm tail.Human genetics · 2021Review
- Whole-Exome Sequencing Implicates theFrontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2-3 years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.