Trial reportMolecular genetics & genomic medicine2019
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Trial report in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Novel IFT140 variants cause spermatogenic dysfunction in humans.Molecular genetics & genomic medicine · 2019Trial
- Genetic alterations in poor-quality individually selected sperm highlight candidate biomarkers for male subfertility.Scientific reports · 2026Article
- Article
- Relationship Between Sperm DNA Fragmentation and Composite Morphological Indices: A Multivariable Analysis.Medicina (Kaunas, Lithuania) · 2026Observational
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Role of intraflagellar transport protein IFT140 in the formation and function of motile cilia in mammals.Cellular and molecular life sciences : CMLS · 2025Article
- Intraflagellar Transport (IFT) and Sperm Formation.Advances in experimental medicine and biology · 2025Review
- Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Sperm DNA Fragmentation: Unraveling Its Imperative Impact on Male Infertility Based on Recent Evidence.International journal of molecular sciences · 2024Review
- Cilia Structure and Function in Human Disease.Current opinion in endocrine and metabolic research · 2024Article
- IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect.EMBO molecular medicine · 2022Article
- IFT140International journal of oral science · 2022Article
- Omics and Male Infertility: Highlighting the Application of Transcriptomic Data.Life (Basel, Switzerland) · 2022Review
- UsingGenes · 2021Review
- Some thoughts about intraflagellar transport in reproduction.Molecular reproduction and development · 2021Article
- Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models.International journal of biological sciences · 2021Review
- Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.PLoS genetics · 2020Article
- Progress in Research on Sperm DNA Fragmentation.Medical science monitor : international medical journal of experimental and clinical research · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe intraflagellar transport protein 140 homolog (IFT140) is involved in the process of intraflagellar transport (IFT), a process that is essential for the formation and maintenance of most eukaryotic cilia and flagella. Variants IFT140 have been reported to account for ciliopathy but association with male fertility has never been described in humans. Here we report the identification of two novel variants of IFT140 which caused spermatogenic dysfunction and male infertility.
methodsWhole-exome sequencing was performed in a 27-year-old infertile man presented with severe oligozoospermia, asthenozoospermia, and teratozoospermia (OAT) without other physical abnormality. Sanger sequencing was used to verify gene variants in the patient, his healthy brother, and their parents. Morphology and protein expression in the patient's sperm were examined by transmission electron microscopy (TEM) and immunofluorescence staining. Function of gene variants was predicted by online databases.
resultsCompound heterozygous variants of IFT140: exon16: c.1837G > A: p.Asp613Asn and exon31: c.4247G > A: p.Ser1416Asn were identified in the patient, both of which showed autosomal recessive inheritance in his family, and had extremely low allele frequency in the population. Morphological abnormalities of the head, nucleus, and tails and the absence of IFT140 from the neck and mid-piece of the patient's spermatozoa were observed. Mutation Taster database predicted a high probability of damage-causing by both variations.
conclusionThis study for the first time reported IFT140 variants that cause infertility in humans.
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.