ArticleJournal of assisted reproduction and genetics2019
Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- Loss-of-function mutations in Ccdc113 cause male infertility in both humans and mice.Asian journal of andrology · 2026Article
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Article
- A Case of Primary Ciliary Dyskinesia Caused byCase reports in medicine · 2026Article
- NSUN7 Regulates Sperm Flagella Formation at All Stages of Spermiogenesis.International journal of molecular sciences · 2025Article
- CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.Asian journal of andrology · 2025Article
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Dnali1 is required for sperm motility and male fertility in mice.Basic and clinical andrology · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.Journal of assisted reproduction and genetics · 2023Article
- Article
- Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.Genes · 2023Review
- Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.Frontiers in genetics · 2023Article
- Article
- Exploring the ovine sperm transcriptome by RNAseq techniques. I Effect of seasonal conditions on transcripts abundance.PloS one · 2022Article
- InnovativeFrontiers in genetics · 2022Review
- Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
- A Catalog of Human Genes Associated With Pathozoospermia and Functional Characteristics of These Genes.Frontiers in genetics · 2021Article
- Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.Life (Basel, Switzerland) · 2020Article
- Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.The American journal of case reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
proposeTo study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level.
methodsTo increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells.
resultsOur data demonstrate that pathogenic variants in CCDC103 gene negatively affect gene and protein expression in both patients who presented absence of DA on their axonemes. Further, we firstly report that CCDC103 is expressed at different levels in reproductive tissues and somatic cells and described that CCDC103 protein forms oligomers with tissue-specific sizes, which suggests that CCDC103 possibly undergoes post-translational modifications. Moreover, we reported that CCDC103 was restricted to the midpiece of sperm and is present at the cytoplasm of the other cells.
conclusionsOverall, our data support the CCDC103 involvement in PCD and suggest that CCDC103 may have different assemblies and roles in cilia and sperm flagella biology that are still unexplored.
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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.