ArticleAmerican journal of human genetics2009
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 124 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Who cites it
124 citing papers in PubMed, 1 synthesis or guideline pooled it, 215 citations in OpenAlex.
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Ultrastructural pathology · 2014Trial
- Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.Molecular genetics & genomic medicine · 2026Article
- LRRC71 is essential for sperm motility, fertilization, and male fertility.The Journal of biological chemistry · 2026Article
- Transcription and potential functions of a novelGenome research · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Exome sequencing-based identification ofFrontiers in molecular biosciences · 2026Article
- DynAPs and cytoplasmic assembly of axonemal dyneins.Journal of cell science · 2025Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects.Biology open · 2025Article
- A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia.Journal of cellular and molecular medicine · 2023Article
- Article
- Review
- Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.Genes · 2023Review
- Article
- LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse.International journal of molecular sciences · 2022Article
- A change of heart: new roles for cilia in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.Journal of cell science · 2022Article
- Ependymal Cilia: Physiology and Role in Hydrocephalus.Frontiers in molecular neuroscience · 2022Review
- Article
64 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 9 institutions in 2 countries.
Funding
Abstract
Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein complexes responsible for cilia-beat generation and regulation, respectively. Here, we demonstrate that large genomic deletions, as well as point mutations involving LRRC50, are responsible for a distinct PCD variant that is characterized by a combined defect involving assembly of the ODAs and IDAs. Functional analyses showed that LRRC50 deficiency disrupts assembly of distally and proximally DNAH5- and DNAI2-containing ODA complexes, as well as DNALI1-containing IDA complexes, resulting in immotile cilia. On the basis of these findings, we assume that LRRC50 plays a role in assembly of distinct dynein-arm complexes.
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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.