Evidence map›Paper›PMID 30790449›Full record

ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2019

A strategic research alliance: Turner syndrome and sex differences.

Adrianna K San Roman, David C Page

Open access · bronzeAbstract readReview
In one paragraph

Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.6field-weighted citation impact, top 16% 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, 15 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  5. Ovarian dysfunction in women with Turner syndrome.Frontiers in endocrinology · 2023
    Review
  6. Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  7. Article
  8. Review
  9. 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

2 authors at 2 institutions in 1 country.

Adrianna K San RomanWhitehead Institute, Cambridge, Massachusetts.ORCID 0000-0003-4511-3052
David C PageWhitehead Institute, Cambridge, Massachusetts.ORCID 0000-0001-5489-6453
Howard Hughes Medical Institute · USWhitehead Institute for Biomedical Research · US

Funding

Center for Clinical and Translational Sciences (CCTS)UL1TR000371 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2012 to 2016
$13.4M
Beyond the reproductive tract: The future of Y chromosome researchU01HG007587 · NHGRI · WHITEHEAD INSTITUTE FOR BIOMEDICAL RES · PI MUENKE, MAXIMILIAN, PAGE, DAVID C. · 2015 to 2017
$1.4M
Effects of sex chromosome constitution on global gene expressionF32HD091966 · NICHD · WHITEHEAD INSTITUTE FOR BIOMEDICAL RES · PI SAN ROMAN, ADRIANNA K · 2017 to 2020
$224k
2018 Turner Resource Network Symposium "Turner Science in the 21st Century"R13HD096857 · NICHD · OREGON HEALTH & SCIENCE UNIVERSITY · PI SILBERBACH, GARY MICHAEL · 2018 to 2018
$16k
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR000371NHGRI NIH HHS U01 HG007587NICHD NIH HHS F32 HD091966NICHD NIH HHS R13 HD096857
6 · The paper itself

Abstract

Sex chromosome constitution varies in the human population, both between the sexes (46,XX females and 46,XY males), and within the sexes (e.g., 45,X and 46,XX females, and 47,XXY and 46,XY males). Coincident with this genetic variation are numerous phenotypic differences between males and females, and individuals with sex chromosome aneuploidy. However, the molecular mechanisms by which sex chromosome constitution impacts phenotypes at the cellular, tissue, and organismal levels remain largely unexplored. Thus, emerges a fundamental question connecting the study of sex differences and sex chromosome aneuploidy syndromes: How does sex chromosome constitution influence phenotype? Here, we focus on Turner syndrome (TS), associated with the 45,X karyotype, and its synergies with the study of sex differences. We review findings from evolutionary studies of the sex chromosomes, which identified genes that are most likely to contribute to phenotypes as a result of variation in sex chromosome constitution. We then explore strategies for investigating the direct effects of the sex chromosomes, and the evidence for specific sex chromosome genes impacting phenotypes. In sum, we argue that integrating the study of TS with sex differences offers a mutually beneficial alliance to identify contributions of the sex chromosomes to human development, health, and disease.

Indexed as

Sex CharacteristicsFemaleHumansPhenotypeTurner Syndromesex chromosome aneuploidysex chromosome evolutionsex differencesTurner syndrome

Identifiers

PMID30790449
PMCPMC6414291
OpenAlexW2916821152

What OpenQuestion holds

Textmetadata
LicenceTDM
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.