ArticleProceedings of the National Academy of Sciences of the United States of America2007
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT06857136 (The Role of the Glymphatic System Avaluated Thourgh mr Imaging in the Diagnosis and Management of NPH), which is not on this map. Cited by 96 papers, 2 of them syntheses 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.
The Role of the Glymphatic System Avaluated Thourgh mr Imaging in the Diagnosis and Management of NPH
Who cites it
96 citing papers in PubMed, 2 syntheses or guidelines pooled it, 191 citations in OpenAlex.
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.Nature genetics · 2013Pooled it
- Heme-binding protein CYB5D1 couples intraflagellar redox to calcium signaling for coordinated flagellar beating.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Functional Diversity and Emerging Roles of Human NME/NDPK Group II Proteins.International journal of molecular sciences · 2026Review
- A Case of Primary Ciliary Dyskinesia Caused byCase reports in medicine · 2026Article
- Chronic sublethal exposure to methylmercury lengthens telomeres in developing zebra finches.Environmental pollution (Barking, Essex : 1987) · 2025Article
- Nme8 is essential for protection against chemotherapy drug cisplatin-induced male reproductive toxicity in mice.Cell death & disease · 2024Article
- Exploring the Genetic Landscape of Mild Behavioral Impairment as an Early Marker of Cognitive Decline: An Updated Review Focusing on Alzheimer's Disease.International journal of molecular sciences · 2024Review
- PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity.Cellular and molecular life sciences : CMLS · 2023Article
- Review
- Perspectives for Primary Ciliary Dyskinesia.International journal of molecular sciences · 2022Article
- A change of heart: new roles for cilia in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- Consensus nomenclature for dyneins and associated assembly factors.The Journal of cell biology · 2022Article
- Transmission distortion and genetic incompatibilities between alleles in a multigenerational mouse advanced intercross line.Genetics · 2022Article
- Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
- Ciliary Dyneins and Dynein Related Ciliopathies.Cells · 2021Review
- Heme-binding protein CYB5D1 is a radial spoke component required for coordinated ciliary beating.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Mucociliary Respiratory Epithelium Integrity in Molecular Defense and Susceptibility to Pulmonary Viral Infections.Biology · 2021Review
- Article
- Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.Journal of assisted reproduction and genetics · 2020Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none of the 18 members of this family has been involved in human pathology. Here we identified TXNDC3, which encodes a thioredoxin-nucleoside diphosphate kinase, as a gene implicated in primary ciliary dyskinesia (PCD), a genetic condition characterized by chronic respiratory tract infections, left-right asymmetry randomization, and male infertility. We show that the disease, which segregates as a recessive trait, results from the unusual combination of the following two transallelic defects: a nonsense mutation and a common intronic variant found in 1% of control chromosomes. This variant affects the ratio of two physiological TXNDC3 transcripts: the full-length isoform and a novel isoform, TXNDC3d7, carrying an in-frame deletion of exon 7. In vivo and in vitro expression data unveiled the physiological importance of TXNDC3d7 (whose expression was reduced in the patient) and the corresponding protein that was shown to bind microtubules. PCD is known to result from defects of the axoneme, an organelle common to respiratory cilia, embryonic nodal cilia, and sperm flagella, containing dynein arms, with, to date, the implication of genes encoding dynein proteins. Our findings, which identify a another class of molecules involved in PCD, disclose the key role of TXNDC3 in ciliary function; they also point to an unusual mechanism underlying a Mendelian disorder, which is an SNP-induced modification of the ratio of two physiological isoforms generated by alternative splicing.
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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.