ArticleHuman genetics2000
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
Article in Human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00783887 (Molecular Diagnosis of Primary Ciliary Dyskinesia), which is not on this map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Molecular Diagnosis of Primary Ciliary Dyskinesia
Who cites it
16 citing papers in PubMed, 48 citations in OpenAlex.
- Microtubule Inner Protein CFAP77 Contributes to Sperm Motility and Male Fertility in Mice.Andrology · 2026Article
- Identified Candidate Genes of Semen Trait in Three Pig Breeds Through Weighted GWAS and Multi-Tissue Transcriptome Analysis.Animals : an open access journal from MDPI · 2025Article
- Review
- Identification of a novel founder variant inFrontiers in genetics · 2022Article
- Thoughts on the popularity of ICSI.Journal of assisted reproduction and genetics · 2021Review
- Microtubular Dysfunction and Male Infertility.The world journal of men's health · 2020Review
- Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Frontiers in immunology · 2019Article
- Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.F1000prime reports · 2015Review
- Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2009Review
- DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.American journal of human genetics · 2008Article
- A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.Journal of medical genetics · 2006Article
- Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism.Asian journal of andrologyReview
- Genetic factors contributing to human primary ciliary dyskinesia and male infertility.Asian journal of andrologyReview
- Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: a case report.Journal of assisted reproduction and geneticsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic sinusitis and bronchiectasis, and usually associated with hypofertility. Half of the patients present a situs inversus, defining the Kartagener's syndrome. This phenotype results from axonemal abnormalities of respiratory cilia and sperm flagella, i.e., mainly an absence of dynein arms. Recently, a candidate-gene approach, based on documented abnormalities of immotile strains of Chlamydomonas reinhardtii, allowed us to identify the first gene involved in PCD. Following the same strategy, we have characterized DNAI2, a human gene related to Chlamzydomonas IC69, and evaluated its possible involvement in a PCD population characterized by an absence of outer dynein arms. DNAI2, which is composed of 14 exons located at 17q25, is highly expressed in trachea and testis. No mutation was found in the DNAI2 coding sequence of the twelve patients investigated. However, ten intragenic polymorphic sites and an EcoRI RFLP have been identified, allowing the exclusion of DNAI2 in three consanguineous families.
Indexed as
Identifiers
What OpenQuestion holds
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.