Evidence map›Paper›PMID 37399516›Full record

ReviewEndocrine connections2023

The multi-omic landscape of sex chromosome abnormalities: current status and future directions.

Helene Bandsholm Leere Tallaksen, Emma B Johannsen, Jesper Just, Mette Hansen Viuff, Claus H Gravholt, Anne Skakkebæk

Open access · goldAbstract readReview
In one paragraph

Review in Endocrine connections, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
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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

6 authors at 2 institutions in 1 country.

Helene Bandsholm Leere TallaksenDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0002-2968-283X
Emma B JohannsenDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0002-1017-7702
Jesper JustDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0002-3825-0000
Mette Hansen ViuffDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-6574-4893
Claus H GravholtDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-5924-1720
Anne SkakkebækDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-9178-4901
Aarhus University Hospital · DKAarhus University · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX), and Double Y syndrome (47,XYY). The phenotype seen in SCAs is highly variable and may not merely be due to the direct genomic imbalance from altered sex chromosome gene dosage but also due to additive alterations in gene networks and regulatory pathways across the genome as well as individual genetic modifiers. This review summarizes the current insight into the genomics of SCAs. In addition, future directions of research that can contribute to decipher the genomics of SCA are discussed such as single-cell omics, spatial transcriptomics, system biology thinking, human-induced pluripotent stem cells, and animal models, and how these data may be combined to bridge the gap between genomics and the clinical phenotype.

Indexed as

geneticsKlinefelter syndromesex chromosome abnormalitiesTurner syndrome

Identifiers

PMID37399516
PMCPMC10448593
OpenAlexW4382932140

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.