Evidence map›Paper›PMID 29275331›Full record

ArticleThe Journal of biological chemistry2018

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K

Conor McClenaghan, Alex Hanson, Monica Sala-Rabanal, Helen I Roessler, Dragana Josifova, Dorothy K Grange, Gijs van Haaften, Colin G Nichols

Open access · hybridAbstract read
In one paragraph

Article in The Journal of biological chemistry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

32 citing papers in PubMed, 39 citations in OpenAlex.

  1. Congenital Hyperinsulinism With Paternally InheritedJournal of the ASEAN Federation of Endocrine Societies · 2026
    Article
  2. Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026
    Review
  3. Article
  4. Article
  5. Article
  6. Electro-metabolic signaling.The Journal of general physiology · 2024
    Article
  7. Identification of a novelFrontiers in genetics · 2024
    Article
  8. Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KThe Journal of pharmacology and experimental therapeutics · 2023
    Article
  9. Article
  10. Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023
    Review
  11. Article
  12. Article
  13. KAmerican journal of physiology. Cell physiology · 2022
    Review
  14. Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022
    Review
  15. Case Report: Loss-of-FunctionFrontiers in genetics · 2022
    Article
  16. Article
  17. Article
  18. Vascular KProceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  19. Behavioral and cognitive functioning in individuals with Cantú syndrome.American journal of medical genetics. Part A · 2021
    Article
  20. 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 3 countries.

Conor McClenaghanFrom the Departments of Cell Biology and Physiology and.
Alex HansonFrom the Departments of Cell Biology and Physiology and.
Monica Sala-RabanalFrom the Departments of Cell Biology and Physiology and.
Helen I Roesslerthe Department of Medical Genetics, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands, and.
Dragana Josifovathe Guy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London SE1 9RT, United Kingdom.
Dorothy K GrangePediatrics, Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, Saint Louis, Missouri 63110.
Gijs van Haaftenthe Department of Medical Genetics, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands, and.
Colin G NicholsFrom the Departments of Cell Biology and Physiology and cnichols@wustl.edu.
University Medical Center Utrecht · NLGuy's and St Thomas' NHS Foundation Trust · GBWashington University in St. Louis · US

Funding

Role of vascular KATP channels in Alzheimer’s neurodegeneration and dementiaR35HL140024 · NHLBI · WASHINGTON UNIVERSITY · PI NICHOLS, COLIN G · 2018 to 2023
$5.9M
NHLBI NIH HHS R35 HL140024
6 · The paper itself

Abstract

The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either

Indexed as

Gain of Function MutationMutation, MissenseAnimalsCardiomegalyGlyburideHumansHypertrichosisKATP ChannelsOsteochondrodysplasiasProtein DomainsRatsSulfonylurea ReceptorsAbcc9 protein, ratGlyburideKATP ChannelsSulfonylurea ReceptorsABC transportercardiovascular diseaseelectrophysiologynucleotidepotassium channel

Identifiers

PMID29275331
PMCPMC5808765
OpenAlexW2765931091

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.