Evidence map›Paper›PMID 17850668›Full record

ArticleBMC genomics2007

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Zizhen Yao, Jochen C Jaeger, Walter L Ruzzo, Cecile Z Morale, Mary Emond, Uta Francke, Dianna M Milewicz, Stephen M Schwartz, Eileen R Mulvihill

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
0.7field-weighted citation impact, top 26% 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

15 citing papers in PubMed, 27 citations in OpenAlex.

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  12. A cytokine axis regulates elastin formation and degradation.Matrix biology : journal of the International Society for Matrix Biology · 2013
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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

9 authors at 4 institutions in 2 countries.

Zizhen YaoDepartment of Pathology, University of Washington, Seattle, Washington 98195, USA. yzizhen@cs.washington.edu
Jochen C Jaeger
Walter L Ruzzo
Cecile Z Morale
Mary Emond
Uta Francke
Dianna M Milewicz
Stephen M Schwartz
Eileen R Mulvihill
University of Washington · USHamilton Medical (Switzerland) · CHStanford University · USThe University of Texas Health Science Center at Houston · US

Funding

XENOBIOTIC BIOTRANSFORMATION AND DISPOSITIONP30ES007033 · NIEHS · UNIVERSITY OF WASHINGTON · PI Nicole Ann Errett · 1995 to 2026
$42.5M
Neovasculature, Plaque Rupture And Progression by MRIP01HL072262 · NHLBI · UNIVERSITY OF WASHINGTON · PI SCHWARTZ, STEPHEN MARK · 2002 to 2006
$11.5M
NHLBI NIH HHS P01 HL072262NHLBI NIH HHS P01 HL72262NIEHS NIH HHS P30 ES007033NIEHS NIH HHS P30ES07033
6 · The paper itself

Abstract

backgroundMarfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms.

resultsWe used spotted membrane DNA macroarrays to identify genes whose altered expression levels may contribute to the phenotype of the disease. Our analysis of 4132 genes identified a subset with significant expression differences between skin fibroblast cultures from unaffected controls versus cultures from affected individuals with known fibrillin-1 mutations. Subsequently, 10 genes were chosen for validation by quantitative RT-PCR.

conclusionDifferential expression of many of the validated genes was associated with MFS samples when an additional group of unaffected and MFS affected subjects were analyzed (p-value < 3 x 10-6 under the null hypothesis that expression levels in cultured fibroblasts are unaffected by MFS status). An unexpected observation was the range of individual gene expression. In unaffected control subjects, expression ranges exceeding 10 fold were seen in many of the genes selected for qRT-PCR validation. The variation in expression in the MFS affected subjects was even greater.

Indexed as

Gene Expression ProfilingOligonucleotide Array Sequence AnalysisCells, CulturedFibroblastsGene Expression RegulationGenetic VariationHumansMarfan SyndromeModels, BiologicalPhenotypeSkin

Identifiers

PMID17850668
PMCPMC2174953
OpenAlexW1969653471

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.