ArticleHuman genetics2014
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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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
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- The amniotic fluid cell-free transcriptome in spontaneous preterm labor.Scientific reports · 2021Trial
- Amniotic fluid cell-free transcriptome: a glimpse into fetal development and placental cellular dynamics during normal pregnancy.BMC medical genomics · 2020Trial
- Identification of gestational-age-dependent cell-free fetal mRNA transcriptional changes in human amniotic fluid.Journal of human genetics · 2026Article
- Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X.Journal of assisted reproduction and genetics · 2026Article
- The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.Communications biology · 2025Article
- Article
- Pre-pregnancy BMI, gestational weight gain, and telomere length in amniotic fluid: a causal graph analysis.Scientific reports · 2024Article
- Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.Journal of pediatric genetics · 2023Review
- Bioinformatic analysis and experimental validation of the potential gene in the airway inflammation of steroid-resistant asthma.Scientific reports · 2023Article
- Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.Prenatal diagnosis · 2022Review
- Identification of a novel gene signature in second-trimester amniotic fluid for the prediction of preterm birth.Scientific reports · 2022Article
- Integrative Analyses of Genes Associated With Otologic Disorders in Turner Syndrome.Frontiers in genetics · 2022Article
- Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues.Frontiers in genetics · 2022Article
- The Relationship between Telomere Length and Gestational Weight Gain: Findings from the Mamma & Bambino Cohort.Biomedicines · 2021Article
- Functional and regulatory aspects of oxidative stress response in X monosomy.In vitro cellular & developmental biology. Animal · 2021Article
- Network-based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome.Scientific reports · 2021Article
- The Amniotic Fluid Cell-Free Transcriptome Provides Novel Information about Fetal Development and Placental Cellular Dynamics.International journal of molecular sciences · 2021Review
- Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p < 0.0001); SHOX was not differentially expressed. One of the most highly represented organ systems was the hematologic/immune system, distinguishing the Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome.
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Registered trials
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