Evidence map›Paper›PMID 38515655›Full record

ArticleHeliyon2024

A novel mutation in

Yanjun Wang, Juan He, Fangling Dong, Weihua Shou, Xingxing Feng, Ya Yang, Cuifen Li, Jingjing Wang, Bin Li, Shufang Xiao

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

Article in Heliyon, 2024. 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 38% 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, 2 citations in OpenAlex.

  1. 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

10 authors at 2 institutions in 1 country.

Yanjun WangPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Juan HePediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Fangling DongPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Weihua ShouKunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China.
Xingxing FengDepartment of Clinical Laboratory, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Ya YangPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Cuifen LiPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Jingjing WangPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Bin LiPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Shufang XiaoPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Kunming Medical University · CNKunming Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the Methods: Routine physical examinations, laboratory assays and imaging analyses were performed. The metabolic profiles of amino acids in blood, acylcarnitine in blood and organic acids in urine were used to determine the presence of inherited metabolic diseases. Genetic variations in the family were investigated using whole-exome sequencing and Sanger sequencing. Splicing disruption by a mutation was predicted and verified using a minigene assay. Results: The patient presented with severe lactic acidosis, neurological symptoms, multiple symmetrical lesions in the brain and serious mitochondrial energy metabolism disturbances. The c.689A > C (p.Q230P) and c.809-1_809delinsA compound heterozygous mutations were detected in Conclusions: The clinical manifestations, brain imaging change, mitochondrial metabolism disturbances and the detection and validation of the

Indexed as

COXPD23MinigeneMitochondrial diseasesNovel GTPBP3 mutationWhole exome sequencing

Identifiers

PMID38515655
PMCPMC10955198
OpenAlexW4392344875

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.