Evidence map›Paper›PMID 29437797›Full record

ArticleCold Spring Harbor molecular case studies2018

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Siren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, Jan Byska, Marc Vaudel, Laurence A Bindoff, Nanna MacAulay, Gunnar Houge

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Aquaporin Channels in the Heart-Physiology and Pathophysiology.International journal of molecular sciences · 2019
    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

8 authors at 3 institutions in 2 countries.

Siren BerlandDepartment of Medical Genetics, Haukeland University Hospital, Bergen N-5021, Norway.
Trine L Toft-BertelsenDepartment of Neuroscience, University of Copenhagen, Copenhagen DK-2200, Denmark.
Ingvild AukrustDepartment of Medical Genetics, Haukeland University Hospital, Bergen N-5021, Norway.
Jan ByskaDepartment of Informatics, University of Bergen, Bergen N-5020, Norway.
Marc VaudelDepartment of Medical Genetics, Haukeland University Hospital, Bergen N-5021, Norway.
Laurence A BindoffDepartment of Neurology, Haukeland University Hospital, Bergen N-5021, Norway.
Nanna MacAulayDepartment of Neuroscience, University of Copenhagen, Copenhagen DK-2200, Denmark.
Gunnar HougeDepartment of Medical Genetics, Haukeland University Hospital, Bergen N-5021, Norway.
Haukeland University Hospital · NOUniversity of Bergen · NOUniversity of Copenhagen · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aquaporin-4, encoded by

Indexed as

AdolescentAnimalsAquaporin 4Brain IschemiaCardiomegalyChild, PreschoolGaitHumansInfantInfant, NewbornIntellectual DisabilityMalePermeabilityPolymorphism, Single NucleotideWaterXenopus laevisAquaporin 4Waterbrain atrophycerebral ischemiaconcentric hypertrophic cardiomyopathycongenital sensorineural hearing impairmentgait imbalanceintellectual disability, mildmacrocephaly at birthrelative macrocephalyspastic gait

Identifiers

PMID29437797
PMCPMC5793774
OpenAlexW2788898258

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.