Evidence map›Paper›PMID 31211175›Full record

ArticleAnnals of clinical and translational neurology2019

Urine mRNA to identify a novel pseudoexon causing dystrophinopathy.

Layal Antoury, Ningyan Hu, Basil Darras, Thurman M Wheeler

3 registry-linked trialsAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. 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
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.

NCT05016908 recruitingnot on this map

Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy

TypeobservationalSponsorMassachusetts General HospitalRan2019 to 2027Enrolled100ConditionsDuchenne Muscular Dystrophy
NCT05019625 recruitingnot on this map

Biomarker Development for Muscular Dystrophies

TypeobservationalSponsorMassachusetts General HospitalRan2015 to 2028Enrolled465ConditionsMyotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy
NCT05020002 recruitingnot on this mapstarted 2020, after this paper: background citation

Extracellular RNA Biomarkers of Myotonic Dystrophy

TypeobservationalSponsorMassachusetts General HospitalRan2020 to 2027Enrolled215ConditionsMyotonic Dystrophy
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Layal AntouryDepartment of Neurology Massachusetts General Hospital Boston Massachusetts.
Ningyan HuDepartment of Neurology Massachusetts General Hospital Boston Massachusetts.
Basil DarrasHarvard Medical School Boston Massachusetts.
Thurman M WheelerDepartment of Neurology Massachusetts General Hospital Boston Massachusetts.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine "liquid biopsy," droplet digital PCR, and sequencing of PCR products to identify a novel cryptic splice site in

Indexed as

Alternative SplicingBiomarkersChild, PreschoolDystrophinExonsHumansMuscular Dystrophy, DuchenneMutationRNA, MessengerRNA Splice SitesBiomarkersDystrophinRNA, MessengerRNA Splice Sites

Identifiers

PMID31211175
PMCPMC6562067

What OpenQuestion holds

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Registered trials

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.