Evidence map›Paper›PMID 27671791›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2016

Viable Ednra

Sibylle Sabrautzki, Michael A Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O Yildirim and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2016. 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
–field-weighted citation impact
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. Endothelin signaling in development.Development (Cambridge, England) · 2023
    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

28 authors.

Sibylle SabrautzkiInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Michael A SandholzerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Bettina Lorenz-DepiereuxInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Robert BrommageInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Gerhard PrzemeckInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Ingrid L Vargas PanessoDepartment of Neurology, Friedrich-Baur-Institut, University Hospital of LMU Munich, Ziemssenstr. 1, 80336, Munich, Germany.
Alexandra VernalekenDepartment of Neurology, Friedrich-Baur-Institut, University Hospital of LMU Munich, Ziemssenstr. 1, 80336, Munich, Germany.
Lillian GarrettInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Katharina BaronLudwig-Boltzmann Gesellschaft GmbH, Ludwig-Boltzmann Institut for Clinical-Forensic Imaging (LBI CFI), BioTechMed Graz, Universitätsplatz 4/2, 8010, Graz, Austria.
Ali O YildirimComprehensive Pneumology Center, Institute of Lung Biology and Disease, Helmholtz Zentrum München, Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Jan RozmanInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Birgit RathkolbInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Christine GauInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Wolfgang HansInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Sabine M HoelterInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Susan MarschallInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Claudia StoegerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Lore BeckerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Helmut FuchsInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Valerie Gailus-DurnerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Martin KlingensporMolecular Nutritional Medicine, Else Kröner-Fresenius Center and ZIEL Research Center for Nutrition and Food Science, Technische Universität München, Gregor-Mendel-Str. 2, 85350, Freising-Weihenstephan, Germany.
Thomas KlopstockDepartment of Neurology, Friedrich-Baur-Institut, University Hospital of LMU Munich, Ziemssenstr. 1, 80336, Munich, Germany.
Christoph LenggerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Leuchtenberger StefanieInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Eckhard WolfGene Center of the Ludwig-Maximilians-Universität München, Chair for Molecular Animal Breeding and Biotechnology, Ludwig-Maximilians-Universität München, Feodor-Lynen-Str. 25, 81377, Munich, Germany.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.
Martin Hrabě de AngelisInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany. hrabe@helmholtz-muenchen.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome. We performed standardized phenotyping of wild-type, heterozygous, and homozygous Ednra

Indexed as

AlopeciaAnimalsGenotypeHumansMandibulofacial DysostosisMiceMutationPhenotypeReceptor, Endothelin ASignal TransductionReceptor, Endothelin A

Identifiers

PMID27671791
PMCPMC5110705

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.