Evidence map›Paper›PMID 37156332›Full record

ReviewExperimental neurology2023

X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.

Madeline Hart, Joshua Conrad, Emma Barrett, Kaitlyn Legg, Gabrielle Ivey, Peter H U Lee, Yun C Yung, Joon W Shim

Open access · greenAbstract readReview
In one paragraph

Review in Experimental neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 28% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Frontiers in genetics · 2026
    Article
  3. Article
  4. Article
  5. 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

8 authors at 3 institutions in 1 country.

Madeline HartDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States.
Joshua ConradDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States.
Emma BarrettDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States.
Kaitlyn LeggDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States.
Gabrielle IveyDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States.
Peter H U LeeDepartment of Cardiothoracic Surgery, Southcoast Health, Fall River, MA, United States; Department of Pathology and Laboratory Medicine, Brown University, Providence, RI, United States.
Yun C YungDepartment of Neuroscience, The Scintillon Research Institute, San Diego, CA, United States.
Joon W ShimDepartment of Biomedical Engineering, Marshall University, Huntington, WV, United States. Electronic address: shim@marshall.edu.
Marshall University · USBrown University · USScintillon Institute · US

Funding

West Virginia IDEA-CTRU54GM104942 · NIGMS · WEST VIRGINIA UNIVERSITY · PI JUDITH FEINBERG · 2012 to 2026
$81.0M
WV INBRE: The Inhibitor of Growth Family Member 4 (ING4) inhibits L-Type Amino Acid Transporter 1 (LAT1) expression to suppress Breast CancerP20GM103434 · NIGMS · MARSHALL UNIVERSITY · PI GARY O RANKIN · 2012 to 2026
$61.1M
Regulation of Tight Junction Molecular Composition by Na/K-ATPaseP20GM121299 · NIGMS · MARSHALL UNIVERSITY · PI HAYNES, JENNIFER · 2018 to 2022
$10.6M
NIGMS NIH HHS P20 GM103434NIGMS NIH HHS P20 GM121299NIGMS NIH HHS U54 GM104942
6 · The paper itself

Abstract

Proximity to telomeres (i) and high adenine and thymine (A + T) content (ii) are two factors associated with high mutation rates in human chromosomes. We have previously shown that >100 human genes when mutated to cause congenital hydrocephalus (CH) meet either factor (i) or (ii) at 91% matching, while two factors are poorly satisfied in human genes associated with familial Parkinson's disease (fPD) at 59%. Using the sets of mouse, rat, and human chromosomes, we found that 7 genes associated with CH were located on the X chromosome of mice, rats, and humans. However, genes associated with fPD were in different autosomes depending on species. While the contribution of proximity to telomeres in the autosome was comparable in CH and fPD, high A + T content played a pivotal contribution in X-linked CH (43% in all three species) than in fPD (6% in rodents or 13% in humans). Low A + T content found in fPD cases suggests that PARK family genes harbor roughly 3 times higher chances of methylations in CpG sites or epigenetic changes than X-linked genes.

Indexed as

HydrocephalusParkinson DiseaseAnimalsCerebral AqueductGenes, X-LinkedGenetic Diseases, X-LinkedHumansMiceMutationRatsTelomereThymineThymineA + T contentCpG sitesMutationsParkinson's diseaseProximity to telomeresX-linked hydrocephalus

Identifiers

PMID37156332
PMCPMC10330542
OpenAlexW4372311981

What Socratic 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 Socratic graph.