Evidence map›Paper›PMID 31173351›Full record

ArticleJournal of anatomy2019

The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.

Stephan C Collins, Ana Uzquiano, Mohammed Selloum, Olivia Wendling, Marion Gaborit, Maria Osipenko, Marie-Christine Birling, Binnaz Yalcin, Fiona Francis

Open access · bronzeAbstract read
In one paragraph

Article in Journal of anatomy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.1field-weighted citation impact, top 25% 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

12 citing papers in PubMed, 22 citations in OpenAlex.

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  12. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.American journal of medical genetics. Part C, Seminars in medical genetics · 2019
    Review
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 2 institutions in 1 country.

Stephan C CollinsInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Ana UzquianoINSERM UMR S-1270, Paris, France.
Mohammed SelloumInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Olivia WendlingInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Marion GaboritInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Maria OsipenkoInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Marie-Christine BirlingInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Binnaz YalcinInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
Fiona FrancisINSERM UMR S-1270, Paris, France.ORCID 0000-0001-8542-7537
Centre National de la Recherche Scientifique · FRInserm · FR

Funding

BioPsy LabexCentre National de la Recherche ScientifiqueEcole des Neurosciences Paris Ile de FranceEuropean Cooperation on Science and Technology COST Action CA16118European Union EU- HEALTH-2013, DESIRE, No 60253Fondation Bettencourt SchuellerFondation de FranceFondation Maladies Rares/Phenomin project IR4995French Agence National de la Recherche (ANR)Institut National de la Santé et de la Recherche MédicaleJTC 2015 Neurodevelopmental DisordersUniversité Pierre et Marie Curie
6 · The paper itself

Abstract

The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1, a microtubule-associated protein showing mutations in human ribbon-like subcortical heterotopia. As previously reported for a spontaneous mouse mutant showing a mutation in Eml1, we observe severe cortical heterotopia in the KO. We also observe abnormal progenitor cells in early corticogenesis, likely to be the origin of the defects. EML1 KO mice on the C57BL/6N genetic background also appear to present a wider phenotype than the original mouse mutant, showing additional brain anomalies, such as corpus callosum abnormalities. We compare the anatomy of male and female mice and also study heterozygote animals. This new resource will help unravel roles for Eml1 in brain development and tissue architecture, as well as the mechanisms leading to severe subcortical heterotopia.

Indexed as

AnimalsBrainClassical Lissencephalies and Subcortical Band HeterotopiasDisease Models, AnimalFemaleMaleMice, KnockoutMicrotubule-Associated ProteinsEml1 protein, mouseMicrotubule-Associated Proteinscortical malformationsheterotopiamouse model of developmental disorders

Identifiers

PMID31173351
PMCPMC6704242
OpenAlexW2969921686

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.