Evidence map›Paper›PMID 28168288›Full record

ArticleCerebral cortex (New York, N.Y. : 1991)2017

Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin.

Joe Bathelt, Jessica Barnes, F Lucy Raymond, Kate Baker, Duncan Astle

Open access · hybridAbstract read
In one paragraph

Article in Cerebral cortex (New York, N.Y. : 1991), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

11 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
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  3. Review
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  6. Observational
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  11. Data-Driven Subtyping of Executive Function-Related Behavioral Problems in Children.Journal of the American Academy of Child and Adolescent Psychiatry · 2018
    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

5 authors at 2 institutions in 1 country.

Joe BatheltMRC Cognition & Brain Sciences Unit, Cambridge CB2 7EF, UK.
Jessica BarnesMRC Cognition & Brain Sciences Unit, Cambridge CB2 7EF, UK.
F Lucy RaymondDepartment of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
Kate BakerMRC Cognition & Brain Sciences Unit, Cambridge CB2 7EF, UK.
Duncan AstleMRC Cognition & Brain Sciences Unit, Cambridge CB2 7EF, UK.
MRC Cognition and Brain Sciences Unit · GBUniversity of Cambridge · GB

Funding

Medical Research Council MC_UP_A060_1103Medical Research Council MC_UU_00005/2Wellcome Trust
6 · The paper itself

Abstract

Knowledge of genetic cause in neurodevelopmental disorders can highlight molecular and cellular processes critical for typical development. Furthermore, the relative homogeneity of neurodevelopmental disorders of known genetic origin allows the researcher to establish the subsequent neurobiological processes that mediate cognitive and behavioral outcomes. The current study investigated white matter structural connectivity in a group of individuals with intellectual disability due to mutations in ZDHHC9. In addition to shared cause of cognitive impairment, these individuals have a shared cognitive profile, involving oromotor control difficulties and expressive language impairment. Analysis of structural network properties using graph theory measures showed global reductions in mean clustering coefficient and efficiency in the ZDHHC9 group, with maximal differences in frontal and parietal areas. Regional variation in clustering coefficient across cortical regions in ZDHHC9 mutation cases was significantly associated with known pattern of expression of ZDHHC9 in the normal adult human brain. The results demonstrate that a mutation in a single gene impacts upon white matter organization across the whole-brain, but also shows regionally specific effects, according to variation in gene expression. Furthermore, these regionally specific patterns may link to specific developmental mechanisms, and correspond to specific cognitive deficits.

Indexed as

Brain MappingNeurodevelopmental DisordersAcyltransferasesAdolescentAdultChildCognition DisordersFemaleGene ExpressionHumansImage Processing, Computer-AssistedMagnetic Resonance ImagingMaleMental DisordersMutationNeural PathwaysAcyltransferasesZDHHC1 protein, humanatypical brain developmentcognitive developmenthuman geneticsstructural connectome

Identifiers

PMID28168288
PMCPMC6600876
OpenAlexW2949313223

What OpenQuestion holds

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LicenceCC BY
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.