Evidence map›Paper›PMID 21653732›Full record

ReviewReproduction (Cambridge, England)2011

Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

Rabindranath De La Fuente, Claudia Baumann, Maria M Viveiros

Open access · bronzeAbstract readReview
In one paragraph

Review in Reproduction (Cambridge, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.4field-weighted citation impact, top 7% 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

32 citing papers in PubMed, 61 citations in OpenAlex.

  1. Article
  2. Article
  3. DNA Damage Responses, the Trump Card of Stem Cells in the Survival Game.Advances in experimental medicine and biology · 2024
    Review
  4. Mutant ATRX: pathogenesis of ATRX syndrome and cancer.Frontiers in molecular biosciences · 2024
    Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. Review
  10. What's new in bone forming tumours of the skeleton?Virchows Archiv : an international journal of pathology · 2020
    Review
  11. Article
  12. Article
  13. Mutant ATRX: uncovering a new therapeutic target for glioma.Expert opinion on therapeutic targets · 2018
    Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. ATRX and DAXX: Mechanisms and Mutations.Cold Spring Harbor perspectives in medicine · 2017
    Review
  19. Article
  20. MECP2 disorders: from the clinic to mice and back.The Journal of clinical investigation · 2015
    Review
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

3 authors at 1 institution in 1 country.

Rabindranath De La FuenteDepartment of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens, Georgia 30602, USA. rfuente@uga.edu
Claudia Baumann
Maria M Viveiros
University of Georgia · US

Funding

Epigenetic Control of Heterochromatin FormationR01HD042740 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI DE LA FUENTE, RABINDRANATH · 2004 to 2010
$1.6M
Role of the DNA Helicase LSH in female meiosisR56HD093383 · NICHD · UNIVERSITY OF GEORGIA · PI DE LA FUENTE, RABINDRANATH · 2018 to 2018
$300k
NICHD NIH HHS R01 HD042740NICHD NIH HHS R56 HD093383PHS HHS 2R01-HDO42740
6 · The paper itself

Abstract

Functional differentiation of chromatin structure is essential for the control of gene expression, nuclear architecture, and chromosome stability. Compelling evidence indicates that alterations in chromatin remodeling proteins play an important role in the pathogenesis of human disease. Among these, α-thalassemia mental retardation X-linked protein (ATRX) has recently emerged as a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres as well as facultative heterochromatin on the murine inactive X chromosome. Mutations in human ATRX result in an X-linked neurodevelopmental condition with various degrees of gonadal dysgenesis (ATRX syndrome). Patients with ATRX syndrome may exhibit skewed X chromosome inactivation (XCI) patterns, and ATRX-deficient mice exhibit abnormal imprinted XCI in the trophoblast cell line. Non-random or skewed XCI can potentially affect both the onset and severity of X-linked disease. Notably, failure to establish epigenetic modifications associated with the inactive X chromosome (Xi) results in several conditions that exhibit genomic and chromosome instability such as fragile X syndrome as well as cancer development. Insight into the molecular mechanisms of ATRX function and its interacting partners in different tissues will no doubt contribute to our understanding of the pathogenesis of ATRX syndrome as well as the epigenetic origins of aneuploidy. In turn, this knowledge will be essential for the identification of novel drug targets and diagnostic tools for cancer progression as well as the therapeutic management of global epigenetic changes commonly associated with malignant neoplastic transformation.

Indexed as

Chromosomal Instabilityalpha-ThalassemiaAnimalsChromatinChromatin Assembly and DisassemblyDisease ProgressionDNA HelicasesEpigenesis, GeneticFemaleFragile X SyndromeGenetic Diseases, X-LinkedHeterochromatinHumansMaleNuclear ProteinsX Chromosome InactivationATRX protein, humanChromatinDNA HelicasesHeterochromatinNuclear ProteinsX-linked Nuclear Protein

Identifiers

PMID21653732
PMCPMC3253860
OpenAlexW2135896264

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.