ArticleGenes2020
Homozygous Splice Site Mutation in
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 24 citations in OpenAlex.
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- A recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.Journal of assisted reproduction and genetics · 2026Review
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- Article
- Article
- Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review.Reproductive biology and endocrinology : RB&E · 2022Review
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- Novel mutations in ZP2 and ZP3 cause female infertility in three patients.Journal of assisted reproduction and genetics · 2022Article
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Oocyte maturation abnormalities - A systematic review of the evidence and mechanisms in a rare but difficult to manage fertility pheneomina.Turkish journal of obstetrics and gynecology · 2022Article
- A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.Journal of assisted reproduction and genetics · 2021Article
- Genetic factors as potential molecular markers of human oocyte and embryo quality.Journal of assisted reproduction and genetics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C>A) in the zona pellucida glycoprotein 1 (
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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.