Evidence map›Paper›PMID 30612561›Full record

ArticleBMC medical genetics2019

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome.

Michele Salemi, Rossella Cannarella, Rosita A Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera, Aldo E Calogero

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. New Insight into Molecular and Hormonal Connection in Andrology.International journal of molecular sciences · 2021
    Review
  8. Observational
  9. Article
  10. Transcriptomics of Meiosis in the Male Mouse.Frontiers in cell and developmental biology · 2021
    Review
  11. Article
  12. Long non-coding RNA GAS5 expression in patients with Down syndrome.International journal of medical sciences · 2020
    Article
  13. Asian journal of andrology
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Michele SalemiOasi Research Institute-IRCCS, Troina (EN), Italy. micezia@tiscali.it.ORCID 0000-0003-1075-8993
Rossella CannarellaDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Rosita A CondorelliDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Laura CiminoDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Federico RidolfoUOS of Clinical Pathology, ASUR Marche - AV2, Hospital of Senigallia, Senigallia, Italy.
Giorgio GiuratoGenomix4Life Srl, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi (SA), Italy.
Corrado RomanoOasi Research Institute-IRCCS, Troina (EN), Italy.
Sandro La VigneraDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Aldo E CalogeroDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
University of Catania · ITOasi Maria SS · ITPluservice (Italy) · ITUniversity of Salerno · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKlinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been shown to be involved in several biologic processes, including inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, as well as cellular growth and proliferation, cellular development and cell-to-cell signaling and interaction. The lncRNA GAS5 expression profile in KS patients has never been evaluated so far.

methodsTo accomplish this, GAS5 mRNA levels were evaluated by Next Generation Sequencing (NGS) technology and qRT-PCR assay in 10 patients with KS and 10 age-matched controls.

resultsNGS results showed a significantly lncRNAGAS5up-regulation by 5.171-fold in patients with KS. Theresults of qRT-PCR confirmed the NGS data.

conclusionsThese findings showed the occurrence of lncRNA GAS5 over-expression in KS patients. Whether this lncRNA is involved in the pathogenesis of inflammation and autoimmune diseases, atherogenesis or germ cell depletion in KS patients is not known. Further studies are needed.

Indexed as

Gene Expression RegulationUp-RegulationAdultHigh-Throughput Nucleotide SequencingHumansKlinefelter SyndromeRare DiseasesReal-Time Polymerase Chain ReactionRNA, Long NoncodingRNA, MessengerSequence Analysis, RNAGAS5 long non-coding RNA, humanRNA, Long NoncodingRNA, MessengerCognitive deficits;NGSKlinefelter syndromemRNAqRT-PCRRare disease

Identifiers

PMID30612561
PMCPMC6322229
OpenAlexW2924524501

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Registered trials

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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.