 |
Journal articles
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Mathilde Nizon
1
Vincent Laugel
2
Kevin M. Flanigan
Matthew Pastore
Megan A. Waldrop
Jill Rosenfeld
3
Ronit Marom
Rui Xiao
3
Amanda Gerard
Olivier Pichon
4
Cédric Le Caignec
Marion Gérard
Klaus Dieterich
5
Megan Truitt Cho
Kirsty Mcwalter
Susan Hiatt
Michelle M Thompson
Stéphane Bézieau
6
Alexandrea Wadley
Klaas J. Wierenga
Jean-Marc Egly
7
Bertrand Isidor
1
Michelle M Thompson
Author
Stéphane Bézieau 6
Author
Alexandrea Wadley
Author
Klaas J. Wierenga
Author
Jean-Marc Egly 7
Author
Bertrand Isidor 1
Author
1
Service de génétique médicale - Unité de génétique clinique [Nantes] (5 allée de l'Île Gloriette, 44000 Nantes - France)
- UN - Université de Nantes (1, quai de Tourville - BP 13522 - 44035 Nantes cedex 1 - France)
- CHU Nantes - Centre hospitalier universitaire de Nantes (1 Place Alexis-Ricordeau, 44000 Nantes - France)
2
Hôpital de Hautepierre [Strasbourg] (Avenue Molière
67200 Strasbourg - France)
3
BCM - Baylor College of Medicine (One Baylor Plaza, Houston, Texas 77030 - United States)
- Baylor University (1301 S University Parks Dr, Waco, TX 76706, États-Unis - United States)
4
Gatonero SA (Espace Innovation 2 – Parc Georges Besse - 110, allée Charles Babbage, 30000 Nîmes - France)
5
INSERM U836, équipe 4, Muscles et pathologies (France)
- GIN - Grenoble Institut des Neurosciences (UJF - Site Santé La Tronche - BP 170 - 38042 Grenoble Cedex 9 - France)
- UJF - Université Joseph Fourier - Grenoble 1 (BP 53 - 38041 Grenoble Cedex 9 - France)
- CHU Grenoble (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U836 (101, rue de Tolbiac, 75013 Paris - France)
6
Service de Génétique (1 Place Alexis-Ricordeau 44000 Nantes - France)
- CHU Nantes - Centre hospitalier universitaire de Nantes (1 Place Alexis-Ricordeau, 44000 Nantes - France)
7
IGBMC - Institut de génétique et biologie moléculaire et cellulaire (I.G.B.M.C, Parc D'Innovation 1 Rue Laurent Fries - BP 10142 67404 ILLKIRCH CEDEX - France)
- Université Louis Pasteur - Strasbourg I (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U596 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7104 (France)
Abstract : Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Other subunits of the kinase module have been already implicated in intellectual disability, namely MED12, MED13L, MED13, and CDK19.
Document type :
Journal articles
Domain :
Complete list of metadatas
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268425
Contributor : Marion Gerard <>
Submitted on : Tuesday, August 20, 2019 - 9:59:15 PM
Last modification on : Thursday, April 23, 2020 - 2:26:27 PM
Contributor : Marion Gerard <>
Submitted on : Tuesday, August 20, 2019 - 9:59:15 PM
Last modification on : Thursday, April 23, 2020 - 2:26:27 PM
Links full text
Identifiers
- HAL Id : hal-02268425, version 1
- PUBMED : 31155615
- DOI : 10.1038/s41436-019-0557-3
Collections
COMUE-NORMANDIE | IGBMC | CNRS | UNIV-NANTES | UGA | SITE-ALSACE
Citation
Mathilde Nizon, Vincent Laugel, Kevin M. Flanigan, Matthew Pastore, Megan A. Waldrop, et al.. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0557-3⟩. ⟨hal-02268425⟩
Metrics
Record views
