Evidence map›Paper›PMID 31642429›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2019

[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].

Chun-Hui Sun, Wen-Miao Liu, Miao-Miao Li, Hui Zou, Shi-Guo Liu, Fang Wang

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 87% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

6 authors at 1 institution in 1 country.

Chun-Hui SunDepartment of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong 266100, China. 18660291711@163.com.
Wen-Miao Liu
Miao-Miao Li
Hui Zou
Shi-Guo Liu
Fang Wang
Qingdao University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.

methodsMutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed.

resultsAmong the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics.

conclusionsA novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.

Indexed as

Congenital HypothyroidismThyroid DysgenesisChildChinaDNA Mutational AnalysisHumansMutationTubulinTUBB1 protein, humanTubulin

Identifiers

PMID31642429
PMCPMC7389734
OpenAlexW2998304361

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.