Evidence map›Paper›PMID 35782621›Full record

ArticleMolecular genetics and metabolism reports2022

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard and 1 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 57% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

11 authors at 4 institutions in 2 countries.

Young Bae SohnDepartment of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea.
Curtis RogersGreenwood Genetic Center, Greenwood, SC, USA.
Jennifer StallworthGreenwood Genetic Center, Greenwood, SC, USA.
Jessica A Cooley ColemanGreenwood Genetic Center, Greenwood, SC, USA.
Laura BuchGreenwood Genetic Center, Greenwood, SC, USA.
Erin JozwiakUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Jo Ann JohnsonUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Tim WoodSection of Genetics and Metabolism, University of Colorado/Children's Hospital of Colorado, Aurora, CO, USA.
Paul HarmatzUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Laura PollardGreenwood Genetic Center, Greenwood, SC, USA.
Raymond J LouieGreenwood Genetic Center, Greenwood, SC, USA.
Greenwood Genetic Center · USUCSF Benioff Children's Hospital · USAjou University Hospital · KRUniversity of Colorado Denver · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of

Indexed as

Aberrant splicingGALNSGALNS transcript isoformMorquio syndrome AMucopolysaccharidosis IVA

Identifiers

PMID35782621
PMCPMC9248232
OpenAlexW4225328448

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.