Evidence map›Paper›PMID 26309238›Full record

ArticlePediatric research2015

Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

Marie Morimoto, Karen J Wang, Zhongxin Yu, Andrew K Gormley, David Parham, Radovan Bogdanovic, Thomas Lücke, Christy Mayfield, Rosanna Weksberg, Glenda Hendson and 1 more

Open access · bronzeAbstract read
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In one paragraph

Article in Pediatric research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 35% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

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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 9 institutions in 4 countries.

Marie MorimotoDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Karen J WangDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Zhongxin YuDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Andrew K GormleyDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
David ParhamDepartment of Pathology, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Radovan BogdanovicDepartment of Nephrology, Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia.
Thomas LückeDepartment of Neuropediatrics, Children's Hospital, Ruhr-University Bochum, Bochum, Germany.
Christy MayfieldWarren Clinic, Tulsa, Oklahoma.
Rosanna WeksbergDepartment of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Glenda HendsonDepartment of Anatomic Pathology, University of British Columbia, Vancouver, British Columbia, Canada.
Cornelius F BoerkoelDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
University of British Columbia · CAUniversity of Oklahoma Health Sciences Center · USChild and Family Research Institute · CAChildren's & Women's Health Centre of British Columbia · CAInstitute of Public Health of Serbia · RSRuhr University Bochum · DEUniversity of Southern California · USUniversity of Toronto · CAWarren Clinic · US

Funding

LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9M
Canadian Institutes of Health ResearchNICHD NIH HHS 5R24HD000836
6 · The paper itself

Abstract

backgroundSchimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in SMARCAL1. A frequent complication is arteriosclerosis associated with reduced elastin expression; however, the mechanism underlying the reduced elastin expression remains unknown.

methodsExpression of transcriptional regulators of elastin (ELN) and microRNA (miRNA) regulators of ELN messenger RNA (mRNA), ELN promoter methylation, and ELN mRNA poly(A) tail length were assessed by quantitative RT-PCR, bisulfite Sanger sequencing, and the Poly(A) Tail Length Assay Kit, respectively, in unaffected developing human aortae and in an SIOD aorta.

resultsComparing unaffected fetal and adult aortae, ELN precursor mRNA (pre-mRNA) levels remained nearly constant, whereas mRNA levels declined by ~10(2)-fold. This corresponded with a reduction in poly(A) tail length but not with changes in the other parameters. In contrast, compared to the unaffected fetal aortae, the SIOD aorta had 18-fold less ELN pre-mRNA and 10(4)-fold less mRNA. This corresponded with increased expression of miRNA regulators and shorter ELN mRNA poly(A) tail lengths but not with altered expression of ELN transcriptional regulators or ELN promoter methylation.

conclusionPosttranscriptional mechanisms account for the reduction in ELN mRNA levels in unaffected aortae, whereas transcriptional and posttranscriptional mechanisms reduce elastin expression in SIOD aorta and predispose to arteriosclerosis.

Indexed as

RNA Processing, Post-TranscriptionalTranscription, GeneticAdolescentAdultAortaArteriosclerosisCase-Control StudiesCells, CulturedChildChild, PreschoolDNA MethylationDown-RegulationElastinFemaleGestational AgeHumansElastinMicroRNAsRNA, MessengerRNA PrecursorsTranscription Factors

Identifiers

PMID26309238
OpenAlexW1190367424

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.