Evidence map›Paper›PMID 38985877›Full record

ArticleScience advances2024

Monoallelic de novo

Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal D Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen and 28 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Science advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Genetic implication of GABAFrontiers in pharmacology · 2025
    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

38 authors.

Simon FrühDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0001-6804-5385
Sami BoudkkaziInstitute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.
Peter KoppensteinerInstitute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.ORCID 0000-0002-3509-1948
Vita SereikaiteCenter for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
Li-Yuan ChenDepartment of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.ORCID 0000-0003-1037-6557
Diego Fernandez-FernandezDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0003-1431-3705
Pascal D RemDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0009-0003-7732-2825
Daniel UlrichDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
Jochen SchwenkInstitute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.ORCID 0000-0003-3664-9795
Ziyang ChenCenter for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
Elodie Le MonnierInstitute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.ORCID 0009-0004-2539-4373
Thorsten FritziusDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0002-3597-6623
Sabrina M InnocentiBiocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
Valérie BesseyriasDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
Luca TrovòDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0002-5864-3776
Michal StawarskiDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0002-9889-0085
Emanuela ArgilliDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.ORCID 0000-0002-6575-7501
Elliott H SherrDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.ORCID 0000-0002-4118-5385
Bregje van BonDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.ORCID 0000-0001-6480-1892
Maria IasconeLaboratorio Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID 0000-0002-4707-212X
Alba PilottaUO Pediatria, Spedali Civili, Brescia, Italy.ORCID 0009-0000-9433-8878
Maria R CutrìUO Pediatria, Spedali Civili, Brescia, Italy.ORCID 0009-0001-8941-4298
Mahshid S AzamianDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-8543-8284
Andrés Hernández-GarcíaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5664-7987
Xiaonan ZhaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-9941-8930
Tiphanie P VogelDivision of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-0857-133X
Herda OnaDivision of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-1460-5169
Peter ScheiffeleBiocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.ORCID 0000-0002-9516-9399
Kristian StrømgaardCenter for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.ORCID 0000-0003-2206-4737
Mehdi TaftiDepartment of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.ORCID 0000-0002-6997-3914
Martin GassmannDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0001-6201-3032
Bernd FaklerInstitute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.ORCID 0000-0001-7264-6423
Ryuichi ShigemotoInstitute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.ORCID 0000-0001-8761-9444
Bernhard BettlerDepartment of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.ORCID 0000-0003-0842-8207

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adherens junction-associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic

Indexed as

Neurotransmitter AgentsSynapsesSynaptic TransmissionAllelesAnimalsCell Adhesion MoleculesEpilepsyFemaleHumansLoss of Function MutationMaleMiceMice, KnockoutNeurodevelopmental DisordersNeuronal PlasticityNeuronsAJAP1 protein, humanCell Adhesion MoleculesNeurotransmitter Agents

Identifiers

PMID38985877
PMCPMC11235169

What OpenQuestion holds

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Registered trials

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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.