Evidence map›Paper›PMID 30234486›Full record

ArticleeLife2018

Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis.

Neus Martínez-Abadías, Roger Mateu Estivill, Jaume Sastre Tomas, Susan Motch Perrine, Melissa Yoon, Alexandre Robert-Moreno, Jim Swoger, Lucia Russo, Kazuhiko Kawasaki, Joan Richtsmeier and 1 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in eLife, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03025763 (Craniosynostosis Network), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.5field-weighted citation impact, top 10% 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.

NCT03025763 active not recruitingnot on this map

Craniosynostosis Network

TypeobservationalSponsorIcahn School of Medicine at Mount SinaiRan2015 to 2028Enrolled2,145ConditionsCraniosynostosisArmsCraniosynostosis Network Environmental Survey, 2D/3D Photography, Buccal Swab Cell Sampling, Blood sampling, Skin Biopsy
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Mouse Cardiovascular Imaging.Current protocols · 2024
    Review
  3. Article
  4. Article
  5. A diffusion MRI-based spatiotemporal continuum of the embryonic mouse brain for probing gene-neuroanatomy connections.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  6. Review
  7. The developmental-genetics of canalization.Seminars in cell & developmental biology · 2019
    Review
  8. 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 5 institutions in 2 countries.

Neus Martínez-AbadíasCentre for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain.ORCID https://orcid.org/0000-0003-3061-2123
Roger Mateu EstivillUniversitat de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-4728-2239
Jaume Sastre TomasUniversitat de les Illes Balears (UIB), Palma de Mallorca, Spain.ORCID https://orcid.org/0000-0001-9053-2390
Susan Motch PerrinePennsylvania State University, Pennsylvania, United States.
Melissa YoonPennsylvania State University, Pennsylvania, United States.
Alexandre Robert-MorenoCentre for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain.ORCID https://orcid.org/0000-0001-9042-1316
Jim SwogerCentre for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain.ORCID http://orcid.org/0000-0003-3805-0073
Lucia RussoCentre for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain.
Kazuhiko KawasakiPennsylvania State University, Pennsylvania, United States.
Joan RichtsmeierPennsylvania State University, Pennsylvania, United States.
James SharpeCentre for Genomic Regulation, The Barcelona Institute for Science and Technology, Barcelona, Spain.ORCID https://orcid.org/0000-0002-1434-9743
Pennsylvania State University · USUniversitat Pompeu Fabra · ESInstitució Catalana de Recerca i Estudis Avançats · ESUniversitat de Barcelona · ESUniversitat de les Illes Balears · ES

Funding

Project III: Systems Biology of Bone in Coronal Nonsyndromic CraniosynostosisP01HD078233 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DREW, PATRICK JAMES, JABS, ETHYLIN WANG · 2014 to 2019
$7.0M
Midface and Upper Airway in CraniosynostosisR01DE022988 · NIDCR · PENNSYLVANIA STATE UNIVERSITY, THE · PI JABS, ETHYLIN WANG, RICHTSMEIER, JOAN THERESE · 2012 to 2016
$3.1M
Burroughs Wellcome Fund 2013 Collaborative Research Travel GrantEuropean Commission FP7-PEOPLE-2012- 597 IIF 327382European Commission FP7‐PEOPLE‐2012‐ 597 IIF 327382National Institute for Health Research NICHD P01HD078233National Institute for Health Research NIDCR R01DE02298NICHD NIH HHS P01 HD078233NIDCR NIH HHS R01 DE022988NIH HHS NICHD P01HD078233NIH HHS NIDCR R01DE02298
6 · The paper itself

Abstract

The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene expression, which are hard to detect and can be obscured later in development by secondary effects. Here, we develop a method to trace back the origins of phenotypic abnormalities by accurately quantifying the 3D spatial distribution of gene expression domains in developing organs. By applying Geometric Morphometrics to 3D gene expression data obtained by Optical Projection Tomography, we determined that our approach is sensitive enough to find regulatory abnormalities that have never been detected previously. We identified subtle but significant differences in the gene expression of a downstream target of a

Indexed as

Gene Expression Regulation, DevelopmentalMutation, MissenseAcrocephalosyndactyliaAnimalsBiometryDisease Models, AnimalGene Expression ProfilingMice, Inbred C57BLReceptor, Fibroblast Growth Factor, Type 2Tomography, X-Ray ComputedFgfr2 protein, mouseReceptor, Fibroblast Growth Factor, Type 2Apert syndromedevelopmental biologydevelopmental defectsGeometric Morphometrics (GM)limb developmentmouseOptical Projection Tomography (OPT)whole‐mount‐in‐situ hybridization (WMISH)

Identifiers

PMID30234486
PMCPMC6199133
OpenAlexW2951882476

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.