ArticleScientific reports2016
Widespread DNA hypomethylation and differential gene expression in Turner syndrome.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 3 of them syntheses that pooled it.
What it found
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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
86 citing papers in PubMed, 3 syntheses or guidelines pooled it, 155 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
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Review
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Epigenetic regulation by DNA methylation in PCOS and POI: mechanisms of ovarian dysfunction and implications for clinical research.Journal of ovarian research · 2026Review
- Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X.Journal of assisted reproduction and genetics · 2026Article
- The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome.Orphanet journal of rare diseases · 2025Article
- A human induced pluripotent stem cell toolbox for studying sex chromosome effects.Stem cell reports · 2025Article
- Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.Journal of the ASEAN Federation of Endocrine Societies · 2025Article
- Epigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers.Clinical epigenetics · 2025Article
- Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.Clinical chemistry and laboratory medicine · 2025Article
- Clinical analysis of karyotypes and phenotypes in 87 cases of Turner syndrome during transitional period.BMC pediatrics · 2025Article
- Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.Journal of the Endocrine Society · 2025Article
- Survey of gene, lncRNA and transposon transcription patterns in four mouse organs highlights shared and organ-specific sex-biased regulation.Genome biology · 2025Article
- The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.Communications biology · 2025Article
- Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.NPJ genomic medicine · 2025Article
- Hearing Loss and Turner Syndrome: A Scoping Review.The journal of international advanced otology · 2025Article
- Article
- Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience.The application of clinical genetics · 2025Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1).
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.