Evidence map›Paper›PMID 31161481›Full record

ArticleJournal of molecular neuroscience : MN2019

Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder.

Jaqueline B Schuch, Vanessa R Paixão-Côrtes, Dânae Longo, Tatiana Roman, Rudimar Dos S Riesgo, Josiane Ranzan, Michele M Becker, Mariluce Riegel, Lavinia Schuler-Faccini

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of molecular neuroscience : MN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 18% 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, 11 citations in OpenAlex.

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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

9 authors at 3 institutions in 1 country.

Jaqueline B SchuchDepartment of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. jaqbs.bio@gmail.com.ORCID http://orcid.org/0000-0002-2195-4407
Vanessa R Paixão-CôrtesDepartment of General Biology, Instituto de Biologia, Universidade Federal da Bahia, Salvador, Brazil.
Dânae LongoInstituto Federal Farroupilha, Campus Alegrete, Alegrete, Brazil.
Tatiana RomanDepartment of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Rudimar Dos S RiesgoNeuropediatrics Service, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Josiane RanzanNeuropediatrics Service, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Michele M BeckerNeuropediatrics Service, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Mariluce RiegelDepartment of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Lavinia Schuler-FacciniDepartment of Genetics, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Universidade Federal do Rio Grande do Sul · BRInstituto Federal Farroupilha · BRUniversidade Federal da Bahia · BR

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 484403/2007-9Coordenação de Aperfeiçoamento de Pessoal de Nível Superior APES, AUX-PE-PROEX- 376/2009 and 1234/2011Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul 07/ 0045-3Fundo de Incentivo a Pesquisa e Eventos Hospital de Clínicas de Porto Alegre FIPE-HCPA, nº 05-451
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, with strong genetic influences as evidenced by its high heritability. Submicroscopic variations (ranging from one kilobase to several megabases) in DNA, called copy number variations (CNVs), have been associated with psychiatric diseases, including ASD. We aimed to identify CNVs in children diagnosed with idiopathic ASD. We used microarray-based comparative genomic hybridization analysis to detect the CNVs, and bioinformatic tools to evaluate their pathogenic potential, based on predicted functional aspects. Using combined cytogenetic and bioinformatic tools, we identified an autism network of genes/proteins related to the CNVs. Among the 40 children analyzed, we found 14 potentially pathogenic CNVs, including those previously associated with ASD (located at 16p11.2, 15q11.2, and 7p21 regions). We suggest that the most relevant biological process and functional attributes involve olfactory receptors. The CNV-related autism network comprised 90 proteins and 754 nodes and indicated the family of olfactory receptors as a significant pathway in ASD. Olfactory receptors were previously associated with neurologic diseases, and they are possibly related to cognition. This integrative analysis that combines cytogenetics and bioinformatics is a promising approach to understand complex conditions such as ASD.

Indexed as

DNA Copy Number VariationsAutism Spectrum DisorderChildFemaleGene Regulatory NetworksHumansMaleProtein Interaction MapsReceptors, OdorantSignal TransductionReceptors, OdorantArray-CGHASDBioinformaticsCNVOlfactory receptor

Identifiers

PMID31161481
OpenAlexW2948197223

What OpenQuestion holds

Textmetadata
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.