Objective: The aim of this study was to summarize the main findings of non-coding RNA (ncRNAs) in Turner syndrome (TS), correlating these biomolecules with the clinical manifestations in affected patients.
Data Source: Searches were conducted in the databases of the United States National Library of Medicine (PubMed), Scientific Electronic Library Online (SciELO), and ScienceDirect, covering original English articles published from 2014 to 2023. Descriptors used included "lncRNAs and Turner Syndrome," "miRNAs and Turner Syndrome," and "circRNAs and Turner Syndrome." The studies that were included addressed the role of ncRNAs in the clinical characteristics of patients with TS. Exclusion criteria comprised texts in abstracts, reports, reviews, and monographs.
Data Synthesis: We identified 147 studies, of which seven were included. In the analysis of microRNAs, miR-486-5p and miR-320a stood out, being associated with ovarian development; miR-126-3p and miR-126-5p were related to greater aortic stiffness. Regarding long non-coding RNAs, the downregulation of XIST indicated dysfunctions in X chromosome inactivation. Concerning circular RNAs, circPPP2R3B, circCSF2RA, and circPCTN were related to immunological functions, while circ_0090421, circ_0090392, and circ_0089945 were linked to cardiac development.
Conclusions: The data from these studies demonstrate that these biomolecules play crucial roles in processes related to specific characteristics observed in TS patients. Besides being suggested as potential biomarkers, they may be useful in clinical practice.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606598 | PMC |
| http://dx.doi.org/10.1590/1984-0462/2025/43/2024029 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Elective Aortic Surgery for Prevention of Aortic Dissection in Turner Syndrome: The Potential Impact of Updated European Society of Cardiology and International Turner Syndrome Consensus Group Guidelines on Referrals to the Heart Team.
Clin Endocrinol (Oxf)
January 2025
Oxford Heart Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Objective: The risk of aortic dissection is increased in Turner Syndrome (TS). Aortic dilation is thought to contribute to this risk and may be managed with elective aortic surgery. New TS guidance has lowered the aortic size thresholds for consideration of aortic surgery.
View Article and Find Full Text PDFSpreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors.
Am J Med Genet C Semin Med Genet
January 2025
GeneDx LLC, Gaithersburg, Maryland, USA.
Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated. In this review, we describe the production cycle of international guidelines for Turner syndrome (TS) and promote the timely and proactive dissemination of these guidelines. We encourage deliberate adoption of an updated standard of care by providers, payors, patients and their families, and professional organizations.
View Article and Find Full Text PDFRevisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFHigh-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, postnatal decrease of the 45,X cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
First-trimester application of non-invasive prenatal testing in the genetic investigation of fetal cystic hygroma and hydrops fetalis associated with Turner syndrome.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!