Evidence map›Paper›PMID 35685915›Full record

ArticleFrontiers in pediatrics2022

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of

Di Zhang, Yi Qu, Xue-Qi Dong, Yi-Ting Lu, Kun-Qi Yang, Xin-Chang Liu, Peng Fan, Yu-Xiao Hu, Chun-Xue Yang, Ling-Gen Gao and 2 more

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

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 95% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 1 country.

Di ZhangDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Yi QuDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Xue-Qi DongDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Yi-Ting LuDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Kun-Qi YangDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Xin-Chang LiuDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Peng FanDepartment of Cardiology, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Yu-Xiao HuEmergency and Critical Care Center, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Chun-Xue YangEmergency and Critical Care Center, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Ling-Gen GaoDepartment of Geriatric Cardiology, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China.
Ya-Xin LiuEmergency and Critical Care Center, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Fuwai Hospital, Beijing, China.
Xian-Liang ZhouDepartment of Geriatric Cardiology, Chinese People's Liberation Army (PLA) General Hospital, Beijing, China.
Chinese Academy of Medical Sciences & Peking Union Medical College · CNChinese People's Liberation Army · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Liddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence. This study aimed to identify the pathogenicity of a nonsense mutation in Methods: To explore the pathogenicity of candidate variant reported in 2015 by our team, we constructed mutant and wild-type models Results: A nonsense variant was detected in six members, two of whom were pediatric patients. This mutation resulted in a termination codon at codon 572, truncating the Pro-Pro-Pro-X-Tyr motif. The mutant epithelial sodium channels displayed higher amiloride-sensitive currents than the wild-type channels ( Conclusion: We found the pathogenicity of a nonsense

Indexed as

amiloride-sensitive currentLiddle syndromelongterm prognosispathogenicitypediatrics

Identifiers

PMID35685915
PMCPMC9170920
OpenAlexW4281398252

What OpenQuestion holds

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LicenceCC BY
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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.