Evidence map›Paper›PMID 38172607›Full record

ArticleScientific reports2024

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Alexandra Jimenez-Armijo, Supawich Morkmued, José Tomás Ahumada, Naji Kharouf, Yvan de Feraudy, Gergo Gogl, Fabrice Riet, Karen Niederreither, Jocelyn Laporte, Marie Christine Birling and 4 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.9field-weighted citation impact, top 16% 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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Citrate Transporter NaCT and Enamel Mineralization: TheInternational journal of molecular sciences · 2026
    Article
  2. Genes · 2025
    Review
  3. Arrhythmic mitral valve prolapse in Kohlschütter-Tönz syndrome.European heart journal. Case reports · 2025
    Article
  4. Article
  5. 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

14 authors at 6 institutions in 2 countries.

Alexandra Jimenez-ArmijoInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Supawich MorkmuedPediatrics Division, Department of Preventive Dentistry, Faculty of Dentistry, Khon Kaen University, Khon Kaen, Thailand.
José Tomás AhumadaInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Naji KharoufLaboratoire de Biomatériaux et Bioingénierie, Inserm UMR_S 1121, Université de Strasbourg, Strasbourg, France.
Yvan de FeraudyInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Gergo GoglInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Fabrice RietCNRS, INSERM, CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Université de Strasbourg, Illkirch, France.
Karen NiederreitherInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Jocelyn LaporteInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Marie Christine BirlingCNRS, INSERM, CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Université de Strasbourg, Illkirch, France.
Mohammed SelloumCNRS, INSERM, CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Université de Strasbourg, Illkirch, France.
Yann HeraultInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.
Magali HernandezCentre Hospitalier Régional Universitaire de Nancy, Competence Center for Rare Oral and Dental Diseases, Université de Lorraine, Nancy, France.
Agnès Bloch-ZupanInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France. agnes.bloch-zupan@unistra.fr.
Centre National de la Recherche Scientifique · FRInserm · FRUniversité de Strasbourg · FRCentre Hospitalier Régional et Universitaire de Nancy · FRInstitut de génétique et de biologie moléculaire et cellulaire · FRKhon Kaen University · TH

Funding

AFM-Téléthon 23933Agence Nationale de la Recherche ANR-10-IDEX-0002Agencia Nacional de Investigación y Desarrollo Scholarship Program/ DOCTORADO BECAS CHILE/2019- 72200405Agencia Nacional de Investigación y Desarrollo Scholarship Program/ DOCTORADO BECAS CHILE/2020- 72210028European Regional Development Fund (ERDF) of the European Union INTERREG IV and V Upper Rhine program RARENET (2016-2019)Filière TETECOU Recherche Filière TETECOU 2021French Ministry of Health National Program for Clinical Research, PHRC 2008 N°4266 Amelogenesis imperfectaInstitut National de la Santé et de la Recherche Médicale Poste d'accueilInterdisciplinary Thematic Institute IMCBio ITI 2021-2028University Hospital of Strasbourg HUS, API, 2009-2012, 'Development of the oral cavity: from gene to clinical phenotype in Human
6 · The paper itself

Abstract

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi

Indexed as

Amelogenesis ImperfectaDementiaEpilepsyTooth AbnormalitiesAnimalsHumansMembrane ProteinsMiceMutationNuclear ProteinsSeizuresMembrane ProteinsNuclear ProteinsROGDI protein, human

Identifiers

PMID38172607
PMCPMC10764811
OpenAlexW4390572223

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.