ArticleHuman genetics2022
ASTL is mutated in female infertility.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Studying the Safety of Trophectoderm Biopsy Using Visible Femtosecond Laser Pulses.International journal of molecular sciences · 2026Article
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- Novel missense variants in COX15 cause oocyte degeneration and female infertility.Journal of assisted reproduction and genetics · 2026Article
- Dynamic Remodeling of the Zona Pellucida: Implications for Oocyte Competence and Assisted Reproduction.International journal of molecular sciences · 2025Review
- Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.Journal of assisted reproduction and genetics · 2025Article
- Crossing the barrier or how regulation of ovastacin controls fertilization and translates into clinical phenotypes.iScience · 2025Review
- A high-resolution N-glycoproteome landscape of aging mouse ovary.Redox biology · 2025Article
- Genetically Predicted Causal Risk Factors for Preeclampsia: A Comprehensive Mendelian Randomization Study.International journal of women's health · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- Article
- The Addis Ababa Lions: Whole-Genome Sequencing of a Rare and Precious Population.Genome biology and evolution · 2024Article
- Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects.Human genetics · 2023Article
- Ovastacin: An oolemma protein that cleaves the zona pellucida to prevent polyspermy.Clinical and experimental reproductive medicine · 2023Article
- Article
- High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.Frontiers in genetics · 2023Article
- The physiological and pathological mechanisms of early embryonic development.Fundamental research · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Female infertility is a relatively common phenotype with a growing number of single gene causes although these account for only a minority of cases. Here, we report a consanguineous family in which adult females who are homozygous for a truncating variant in ASTL display markedly reduced fertility in a pattern strikingly similar to Astl
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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.