Evidence map›Paper›PMID 18799476›Full record

ArticleHuman molecular genetics2008

Identification of Arx transcriptional targets in the developing basal forebrain.

Carl T Fulp, Ginam Cho, Eric D Marsh, Ilya M Nasrallah, Patricia A Labosky, Jeffrey A Golden

Open access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 4% 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

92 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Cellular Functional Analyses ofHuman mutation · 2026
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  7. Article
  8. Review
  9. Dissecting Gene Regulatory Networks Governing Human Cortical Cell Fate.bioRxiv : the preprint server for biology · 2025
    Article
  10. Article
  11. Review
  12. MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025
    Review
  13. Article
  14. Article
  15. Developmental trajectories of GABAergic cortical interneurons are sequentially modulated by dynamicProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  16. Article
  17. Generation of FLAG-tagged Arx knock-in mouse model.Genesis (New York, N.Y. : 2000) · 2022
    Article
  18. Article
  19. Further Delineation of Duplications ofInternational journal of molecular sciences · 2022
    Review
  20. Review

32 more citing papers are in PubMed but not listed here.

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 3 institutions in 1 country.

Carl T FulpNeuroscience Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Ginam Cho
Eric D Marsh
Ilya M Nasrallah
Patricia A Labosky
Jeffrey A Golden
University of Pennsylvania · USChildren's Hospital of Philadelphia · USVanderbilt University Medical Center · US

Funding

TRANSGENIC MOUSE MODELS OF MENTAL RETARDATIONP30HD026979 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ROBERTS, TIMOTHY P · 1990 to 2015
$15.3M
The Role of ARX in Normal and Abnormal Brain DevelopmentR01NS046616 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDEN, JEFFREY A · 2005 to 2013
$4.1M
NICHD NIH HHS P30HD26979NINDS NIH HHS NS46616NINDS NIH HHS R01 NS046616
6 · The paper itself

Abstract

Mutations in the aristaless-related homeobox (ARX) gene are associated with multiple neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal progenitor proliferation and development of the cerebral cortex, thalamus, hippocampus, striatum, and olfactory bulbs. Specific defects associated with Arx loss of function include abnormal interneuron migration and subtype differentiation. How disruptions in ARX result in human disease and how loss of Arx in mice results in these phenotypes remains poorly understood. To gain insight into the biological functions of Arx, we performed a genome-wide expression screen to identify transcriptional changes within the subpallium in the absence of Arx. We have identified 84 genes whose expression was dysregulated in the absence of Arx. This population was enriched in genes involved in cell migration, axonal guidance, neurogenesis, and regulation of transcription and includes genes implicated in autism, epilepsy, and mental retardation; all features recognized in patients with ARX mutations. Additionally, we found Arx directly repressed three of the identified transcription factors: Lmo1, Ebf3 and Shox2. To further understand how the identified genes are involved in neural development, we used gene set enrichment algorithms to compare the Arx gene regulatory network (GRN) to the Dlx1/2 GRN and interneuron transcriptome. These analyses identified a subset of genes in the Arx GRN that are shared with that of the Dlx1/2 GRN and that are enriched in the interneuron transcriptome. These data indicate Arx plays multiple roles in forebrain development, both dependent and independent of Dlx1/2, and thus provides further insights into the understanding of the mechanisms underlying the pathology of mental retardation and epilepsy phenotypes resulting from ARX mutations.

Indexed as

Gene Expression Regulation, DevelopmentalTranscription, GeneticAnimalsGene Regulatory NetworksHomeodomain ProteinsHumansIntellectual DisabilityMiceMice, Inbred C57BLMice, TransgenicMolecular Sequence DataProsencephalonTranscription FactorsARX protein, mouseHomeodomain ProteinsTranscription Factors

Identifiers

PMID18799476
PMCPMC2581427
OpenAlexW2136039261

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.