Evidence map›Paper›PMID 24570023›Full record

ArticleMolecular biology reports2014

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

Xiaojuan Xu, Zhimin Xiong, Lusi Zhang, Yalan Liu, Lina Lu, Yu Peng, Hui Guo, Jingping Zhao, Kun Xia, Zhengmao Hu

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In one paragraph

Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 22% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.

  1. Pooled it
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  11. Synaptic recognition molecules in development and disease.Current topics in developmental biology · 2021
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  19. Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2018
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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

10 authors at 2 institutions in 1 country.

Xiaojuan XuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Zhimin Xiong
Lusi Zhang
Yalan Liu
Lina Lu
Yu Peng
Hui Guo
Jingping Zhao
Kun Xia
Zhengmao Hu
Central South University · CNSecond Xiangya Hospital of Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism is a neurodevelopmental disorder clinically characterized by impairment of social interaction, deficits in verbal communication, as well as stereotypic and repetitive behaviors. Several studies have implicated that abnormal synaptogenesis was involved in the incidence of autism. Neuroligins are postsynaptic cell adhesion molecules and interacted with neurexins to regulate the fine balance between excitation and inhibition of synapses. Recently, mutation analysis, cellular and mice models hinted neuroligin mutations probably affected synapse maturation and function. In this study, four missense variations [p.G426S (NLGN3), p.G84R (NLGN4X), p.Q162 K (NLGN4X) and p.A283T (NLGN4X)] in four different unrelated patients have been identified by PCR and direct sequencing. These four missense variations were absent in the 453 controls and have not been reported in 1000 Genomes Project. Bioinformatic analysis of the four missense variations revealed that p.G84R and p.A283T were "Probably Damaging". The variations may cause abnormal synaptic homeostasis and therefore trigger the patients more predisposed to autism. By case-control analysis, we identified the common SNPs (rs3747333 and rs3747334) in the NLGN4X gene significantly associated with risk for autism [p = 5.09E-005; OR 4.685 (95% CI 2.073-10.592)]. Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population.

Indexed as

Genetic Association StudiesAdolescentAnimalsAsian PeopleAutistic DisorderCell Adhesion Molecules, NeuronalChildChild, PreschoolFemaleGenetic Predisposition to DiseaseHumansMaleMembrane ProteinsMiceMutation, MissenseNerve Tissue ProteinsCell Adhesion Molecules, NeuronalMembrane ProteinsNerve Tissue Proteinsneuroligin 3NLGN4X protein, human

Identifiers

PMID24570023
OpenAlexW2000292371

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Registered trials

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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.