Evidence map›Paper›PMID 24859216›Full record

ReviewJournal of physiology, Paris

Understanding intellectual disability through RASopathies.

Alvaro San Martín, Mario Rafael Pagani

Abstract readReview
In one paragraph

Review in Journal of physiology, Paris. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017
    Article
  6. 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.

Alvaro San MartínGenetics of Learning Laboratory, Systems Neuroscience Section, Department of Physiology and Biophysics, School of Medicine, University of Buenos Aires, IFIBIO-Houssay-CONICET, C1121ABG Buenos Aires, Argentina.
Mario Rafael PaganiGenetics of Learning Laboratory, Systems Neuroscience Section, Department of Physiology and Biophysics, School of Medicine, University of Buenos Aires, IFIBIO-Houssay-CONICET, C1121ABG Buenos Aires, Argentina. Electronic address: pagani@fmed.uba.ar.

Funding

Understanding intellectual disability in Noonan syndrome and related disordersR03TW009010 · FIC · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2011 to 2013
$158k
FIC NIH HHS R03 TW009010
6 · The paper itself

Abstract

Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies.

Indexed as

Intellectual DisabilityAnimalsHumansMitogen-Activated Protein Kinase KinasesModels, BiologicalMutationras ProteinsSignal TransductionMitogen-Activated Protein Kinase Kinasesras ProteinsLearning deficitLearning strategiesPharmacological treatmentPhenotypic reversionRAS/MAP kinase signaling pathway

Identifiers

PMID24859216
PMCPMC4240771

What OpenQuestion holds

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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.