ArticleMolecular medicine (Cambridge, Mass.)2019
FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.
Article in Molecular medicine (Cambridge, Mass.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- The Impact of Fetal Growth Restriction on Myocardial Development from Fetal Life to Early Childhood: A Narrative Review.Children (Basel, Switzerland) · 2026Review
- The uterine secretome initiates growth of gynecologic tissues in ectopic locations: re-evaluating the evidence.Pathology oncology research : POR · 2026Review
- FOXD1, a hypoxia-related gene, accelerates prostate cancer cell growth by increasing glycolysis under hypoxia conditions.BMC biotechnology · 2025Article
- Mapping Chemical-Gene Interactions for Developmental Lethality and Pregnancy Loss.medRxiv : the preprint server for health sciences · 2025Article
- Review
- Designing Effective Multi-Target Drugs and Identifying Biomarkers in Recurrent Pregnancy Loss (RPL) Using In Vivo, In Vitro, and In Silico Approaches.Biomedicines · 2023Article
- FOXD1 facilitates pancreatic cancer cell proliferation, invasion, and metastasis by regulating GLUT1-mediated aerobic glycolysis.Cell death & disease · 2022Article
- Pregnancy, preeclampsia and maternal aging: From epidemiology to functional genomics.Ageing research reviews · 2022Review
- Genetic Background of Fetal Growth Restriction.International journal of molecular sciences · 2021Review
- Impact of vitamin C supplementation on placental DNA methylation changes related to maternal smoking: association with gene expression and respiratory outcomes.Clinical epigenetics · 2021Article
- Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.Frontiers in genetics · 2021Article
- Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.Pharmacogenomics and personalized medicine · 2021Article
- Smoking and Smoking Cessation in the Risk for Fetal Growth Restriction and Low Birth Weight and Additive Effect of Maternal Obesity.Journal of clinical medicine · 2020Article
- Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA.Current hypertension reports · 2020Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHuman reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women's health during pregnancy. Several female-related diseases have been associated with hypofertility/infertility phenotypes, such as recurrent pregnancy loss (RPL). Other occurring diseases may be life-threatening for the mother and foetus, such as preeclampsia (PE) and intra-uterine growth restriction (IUGR). FOXD1 was defined as a major molecule involved in embryo implantation in mice and humans by regulating endometrial/placental genes. FOXD1 mutations in human species have been functionally linked to RPL's origin.
methodsFOXD1 gene mutation screening, in 158 patients affected by PE, IUGR, RPL and repeated implantation failure (RIF), by direct sequencing and bioinformatics analysis. Plasmid constructs including FOXD1 mutations were used to perform in vitro gene reporter assays.
resultsNine non-synonymous sequence variants were identified. Functional experiments revealed that p.His267Tyr and p.Arg57del led to disturbances of promoter transcriptional activity (C3 and PlGF genes). The FOXD1 p.Ala356Gly and p.Ile364Met deleterious mutations (previously found in RPL patients) have been identified in the present work in women suffering PE and IUGR.
conclusionsOur results argue in favour of FOXD1 mutations' central role in RPL, RIF, IUGR and PE pathogenesis via C3 and PlGF regulation and they describe, for the first time, a functional link between FOXD1 and implantation/placental diseases. FOXD1 could therefore be used in clinical environments as a molecular biomarker for these diseases in the near future.
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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.