Evidence map›Paper›PMID 30255221›Full record

ArticleGenes & genomics2019

Mutations of ARX and non-syndromic intellectual disability in Chinese population.

Yufei Wu, Huan Zhang, Xiaofen Liu, Zhangyan Shi, Hongling Li, Zhibin Wang, Xiaoyong Jie, Shaoping Huang, Fuchang Zhang, Junlin Li and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Genes & genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 26% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Cellular Functional Analyses ofHuman mutation · 2026
    Article
  2. Article
  3. Review
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

12 authors at 3 institutions in 1 country.

Yufei WuKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Huan ZhangThe 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
Xiaofen LiuKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Zhangyan ShiKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Hongling LiKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Zhibin WangKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Xiaoyong JieXi'an Cangning Psychiatric Hospital, Xi'an, 710114, China.
Shaoping HuangThe 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
Fuchang ZhangKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Junlin LiKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China.
Kejin ZhangKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China. zhangkj@nwu.edu.cn.ORCID 0000-0002-4980-1736
Xiaocai GaoKey Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health, Northwest University, Xi'an, 710069, China. gaocx@nwu.edu.cn.
Ministry of Education of the People's Republic of China · CNSecond Affiliated Hospital of Xi'an Jiaotong University · CNXian Mental Health Center · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations of Aristaless-related homeobox (ARX) gene were looked as the third cause of non-syndromic intellectual disability (NSID), while the boundary between true disease-causing mutations and non-disease-causing variants within this gene remains elusive. To investigate the relationship between ARX mutations and NSID, a panel comprising six reported causal mutations of the ARX was detected in 369 sporadic NSID patients and 550 random participants in Chinese. Two mutations, c.428_451 dup and p.G286S, may be disease-causing mutations for NSID, while p.Q163R and p.P353L showed a great predictive value in female NSID diagnosis with significant associations (X

Indexed as

MutationAdolescentChinaFemaleHomeodomain ProteinsHumansIntellectual DisabilityMalePolymorphism, GeneticTranscription FactorsARX protein, humanHomeodomain ProteinsTranscription FactorsAristaless-related homeobox (ARX)Disease-causing mutationGenetic counselingNon-syndromic intellectual disability

Identifiers

PMID30255221
OpenAlexW2893399140

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.