Evidence map›Paper›PMID 34361012›Full record

ArticleInternational journal of molecular sciences2021

Rare Gain-of-Function

Cheng-Tsung Hsiao, Thomas F Tropea, Ssu-Ju Fu, Tanya M Bardakjian, Pedro Gonzalez-Alegre, Bing-Wen Soong, Chih-Yung Tang, Chung-Jiuan Jeng

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.1field-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

10 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Restoration of Shal/KCellular and molecular life sciences : CMLS · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. An E280K Missense Variant inInternational journal of molecular sciences · 2023
    Article
  9. Review
  10. A Second Case With the V374ANeurology. Genetics · 2022
    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

8 authors at 3 institutions in 2 countries.

Cheng-Tsung HsiaoDepartment of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.
Thomas F TropeaDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-0766-1496
Ssu-Ju FuDepartment of Physiology, College of Medicine, National Taiwan University, Taipei 10051, Taiwan.
Tanya M BardakjianDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Pedro Gonzalez-AlegreDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Bing-Wen SoongDepartment of Neurology, School of Medicine, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan.ORCID 0000-0002-3502-7153
Chih-Yung TangDepartment of Physiology, College of Medicine, National Taiwan University, Taipei 10051, Taiwan.ORCID 0000-0003-1065-2865
Chung-Jiuan JengBrain Research Center, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan.ORCID 0000-0001-6271-5704
National Yang Ming Chiao Tung University · TWUniversity of Pennsylvania · USNational Taiwan University · TW

Funding

Ministry of Science and Technology, Taiwan 108-2320-B-010-039-MY3; 108-2320-B-002-033-MY3NIH/NINDS K23-NS11416-01A1
6 · The paper itself

Abstract

Loss-of-function mutations in the K

Indexed as

Gain of Function MutationAction PotentialsAgedBrainCognitive DysfunctionHEK293 CellsHumansIronMaleParkinsonian DisordersProtein DomainsShal Potassium ChannelsSpinocerebellar AtaxiasIronKCND3 protein, humanShal Potassium Channelschannelopathyiron homeostasismolecular geneticsparkinsonismspinocerebellar ataxia

Identifiers

PMID34361012
PMCPMC8347726
OpenAlexW3188902468

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.