Evidence map›Paper›PMID 32164076›Full record

ReviewZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology2020

[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].

S Y Jia, D H Zhou, X J Ou, J Huang

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

Review in Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology, 2020. 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
0.1field-weighted citation impact, top 54% 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. [Research progress in gene therapy for Wilson's disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021
    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

4 authors at 2 institutions in 1 country.

S Y JiaExperiment Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China; Beijing Institute of Clinical Medicine, Beijing 100050, China.
D H ZhouExperiment Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China; Beijing Institute of Clinical Medicine, Beijing 100050, China.
X J OuLiver Disease Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050.
J HuangExperiment Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China; Beijing Institute of Clinical Medicine, Beijing 100050, China.
Capital Medical University · CNBeijing Friendship Hospital · CN

Funding

Beijing Postdoctoral Research Foundation 2018-22-116Digestive Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals XXZ0501, XXX0101, XXT03National Natural Science Foundation of China 81800451
6 · The paper itself

Abstract

Hepatolenticular degeneration, also named Wilson disease, is an autosomal recessive genetic disease that characterized by copper metabolism disorder. WD mainly caused by the dysfunction of mutant ATP7B variants. This review summaries the mechanisms that different mutations affect the function of ATP7B, including inducing the mislocalization of mutant proteins, affecting the interactions between proteins or domains, regulating catalytic activity of ATP7B, and modifying the splicing of ATP7B gene. Further more, the genotype-phenotype correlation of a few mutations has been reviewed. Several mutations, such as p.R778L, are considered to be associated with more serious clinical symptoms, and the differences in environmental, diet, and lifestyle habits may also have effects on the susceptibility or the onset age of the patients. The research of the pathogenesis and clinical characterization of ATP7B gene mutations in the molecular level helps to deepen the understanding of WD, and suggests that personalized treatments should be used in future clinical practice.

Indexed as

Cation Transport ProteinsAdenosine TriphosphatasesCopper-Transporting ATPasesGenotypeHepatolenticular DegenerationHumansMutationAdenosine TriphosphatasesCation Transport ProteinsCopper-Transporting ATPasesATPase Cu(2+) transporting beta polypeptide geneClinical phenotypeGene mutationHepatolenticular degenerationMolecular mechanism

Identifiers

PMID32164076
PMCPMC12769297
OpenAlexW3012564521

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.