ArticleJournal of assisted reproduction and genetics2015
Mutation analysis in patients with total sperm immotility.
Article in Journal of assisted reproduction and genetics, 2015. 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
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
26 citing papers in PubMed, 38 citations in OpenAlex.
- A Compound Heterozygous Missense Variant in TheInternational journal of fertility & sterility · 2026Article
- Hydin as the Candidate Master Sex Determination Gene in Channel Catfish (Ictalurus punctatus) and Its Epigenetic Regulation.Marine biotechnology (New York, N.Y.) · 2024Review
- Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis.EBioMedicine · 2023Article
- New Insights on Sperm Function in Male Infertility of Unknown Origin: A Multimodal Approach.Biomolecules · 2023Article
- Integrated modeling of the Nexin-dynein regulatory complex reveals its regulatory mechanism.Nature communications · 2023Article
- Integrated modeling of the Nexin-dynein regulatory complex reveals its regulatory mechanism.bioRxiv : the preprint server for biology · 2023Article
- Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.Genes · 2023Review
- Genomic imprinting-like monoallelic paternal expression determines sex of channel catfish.Science advances · 2022Article
- DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.Molecular biology reports · 2022Article
- Article
- MicroRNA-targeting in male infertility: Sperm microRNA-19a/b-3p and its spermatogenesis related transcripts content in men with oligoasthenozoospermia.Frontiers in cell and developmental biology · 2022Article
- Association of paternal MTHFR polymorphisms (C677T) with clinical outcomes in ICSI treatment.Frontiers in endocrinology · 2022Article
- A Catalog of Human Genes Associated With Pathozoospermia and Functional Characteristics of These Genes.Frontiers in genetics · 2021Article
- The X chromosome and male infertility.Human genetics · 2021Review
- Transcriptome analysis of turkey (Meleagris gallopavo) reproductive tract revealed key pathways regulating spermatogenesis and post-testicular sperm maturation.Poultry science · 2020Article
- Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.The American journal of case reports · 2020Article
- Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report.Medicine · 2020Article
- Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.Bioscience reports · 2020Article
- Sperm defects in primary ciliary dyskinesia and related causes of male infertility.Cellular and molecular life sciences : CMLS · 2020Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePerform the genetic characterization of five patients with total sperm immotility using Sanger sequencing and Whole Exome Sequencing (WES), in order to increase the knowledge on the genetics of sperm immotility and, ultimately, allow the identification of potential genetic markers for infertility.
methodsProspective study at a University Medical school. We analysed five men with total sperm immotility, four with dysplasia of the fibrous sheath (DFS), associated with disruption of several axonemal structures, and one patient with situs inversus totalis, which showed absence of dynein arms (DA) and nexin bridges. We screened 7 genes by Sanger sequencing, involved in sperm motility and associated to ultrastructural defects found in these patients (CCDC39, CCDC40, DNAH5, DNAI1, RSPH1, AKAP3 and AKAP4). Additionally, we performed WES analysis in the patient with situs inversus.
resultsWe identified nine new DNA sequence variants by WES. Two of these variants were considered particularly relevant: a homozygous missense change in CCDC103 gene (c.104G > C, p.R35P) probably related with absence of dynein arms; the other in the INSL6 gene (c.262_263delCC) is thought to be also involved in sperm immotility.
conclusionsOur work suggests that WES is an effective strategy, especially as compared with conventional sequencing, to study highly heterogenic genetic diseases, such as sperm immotility. For future work we expect to expand the analysis of WES to the other four patients and complement findings with expression analysis or functional studies to determine the impact of the novel variants.
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.