ArticleJournal of human genetics2019
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- TheCells · 2024Article
- Identification of hub genes associated with head and neck squamous cell carcinoma by integrated bioinformatics approach and RNA-seq validation analysis.American journal of cancer research · 2023Article
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- Identification of key methylation differentially expressed genes in posterior fossa ependymoma based on epigenomic and transcriptome analysis.Journal of translational medicine · 2021Article
- Case Report: Identification of a NovelFrontiers in genetics · 2021Article
- Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.Bioscience reports · 2020Article
- A Novel NonsenseFrontiers in cardiovascular medicine · 2020Article
- Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.American journal of translational research · 2020Article
- Idiopathic thrombocytopenic purpura in a patient with situs inversus totalis: case report and literature review.Einstein (Sao Paulo, Brazil) · 2020Article
- Article
- Functional loss ofDisease models & mechanisms · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
We identified a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. This stopgain mutation was predicted to be disease causing by bioinformatics program (MutationTaster) and was also not presented in the current Genome Aggregation Database (gnomAD), Exome Aggregation Consortium (ExAC), Single Nucleotide Polymorphism Database (dbSNP), or National Heart, Lung, and Blood Institute (NHLBI) and Exome Sequencing Project (ESP). In addition, to the best of our knowledge, the present study was the first to report a CCDC151 mutation in primary ciliary dyskinesia patients with situs inversus in mainland China. In conclusion, our finding expands the spectrum of CCDC151 mutations, and more importantly our study provides additional support that CCDC151 plays important roles in left-right patterning and ciliary function.
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.