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Frédéric Tran Mau-Them on Muck Rack

Frédéric Tran Mau-Them

As seen in: Nature, Journal of Medical Genetics (JMG), Cell Press, The American Journal of Human Genetics
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Articles

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model

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By Yeonsoo Oh, HoYong Jin, Valeria Capra, Annalaura Torella, Vincenzo Nigro, Bertrand Isidor, Frédéric Tran Mau-Them, René G. Feichtinger, Johannes A. Mayr, Saskia B. Wortmann, Hyeyoon Kim, Dohyun Han, Jin Lee, Jong-Hee Chae, Murim Choi, Yongcheol Cho, Youngha Lee
| Nature Verified
Abstract Pathogenic variants in human KCTD3 are associated with severe neurodevelopmental disorders characterized by early-onset seizures, developmental delay, hypotonia, and cerebellar hypoplasia, but the underlying mechanisms remain unclear. Here we show that KCTD3 regulates neuronal structural organization through DAAM1, a protein involved in actin cytoskeleton assembly.
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Correction: Comprehensive analysis of CNOT3 -related neurodevelopmental disorders: phenotypic and genotypic characterization

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By Camille Engel, Emanuela Argilli, Pierre Blanc, Lucía Bruno, Bert Louis Callewaert, Valeria Capra, Michele Carullo, Bertrand Chesneau, Sandra Coppens, Cynthia Curry, Breanne Dale, Eric Dahlen, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Lenka Dvorakova, Jan Fischer, David Geneviève, Thea Giacomini, Irina Hüning, Bertrand Isidor, Boris Keren, Stanislav Kmoch, David A. Koolen, Andrea Kübler, Carolyn Le, Jonathan Levy, Caterina Rizzo, Silvia Maitz, Sandrine Marlin, Cyril Mignot, Ghayda M. Mirzaa, Inga Nagel, Sebastian Neuens, Emily M Pao, Julie Plaisancié, Flavia Privitera, André Reis, Alessandra Renieri, Marlene Rio, Alyssa L. Rippert, Lukáš Ryba, Jolanda H. Schieving, Elliott H. Sherr, Andrew Y. Shuen, Richard Sidlow, Thomas Smol, Julie Soblet, Pasquale Striano, Mohnish Suri, Frédéric Tran Mau-Them, André M. Travessa, Julien Van Gils, Georgia Vasileiou, Jolijn Verseput, Catheline Vilain, Catherine Vincent-Delorme, Emma L. Wakeling, Pia Zacher, Federico Zara, Paul Kuentz, Juliette Piard, Michaela Rendek, Jessica Assoumani, Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K. Bijlsma, Bénédicte Demeer, Mette M. Handrup, Michelle Iacomino, Lenka Nosková, Anna Pecková, Joseph Porrmann, Hannes Syryn, Emílie Vyhnálková
| Nature Verified
Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-025-01884-z, published online 25 June 2025 In the original article last name of author Emilia K. Bijlsma was incorrectly written as Bijlsmaa. The original article has been corrected. About this article Engel, C., Rendek, M., Assoumani, J. et al. Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. Eur J Hum Genet (2026).
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DNA methylation signature and clinical delineation of PACS1 -related disorder in 24 unreported individuals

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By Quentin Sabbagh, Sadegheh Haghshenas, Jean-Luc Alessandri, Mads Bak, Allan Bayat, Alfredo Brusco, Tiffany Busa, Paige Calvert, Valérie Cormier-Daire, Yannis Duffourd, Anne Guimier, Laetitia Lambert, Gaetan Lesca, Nicolas Chatron, Michael Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godeliève Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Audrey Putoux, Marlene Rio, Massimiliano Rossi, Nathalie Ruiz-Pallares, Stefano Pagano, Filippo M Santorelli, Clément Sauvestre, Jennifer C. Schymick, Victoria Mok Siu, Matthew L. Tedder, Frédéric Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève, Camille Cenni, Mouna Barat-Houari, Anaïs Calaya, Christine Coubes, Giovanni B. Ferrero, Damien Haye, Tina Duelund Hjortshøj, Carolyn Lauzon-Young, Lucile Pinson, Linda Pons, Lucie Rouaux, Flavien Rouxel, Elodie Sanchez, Marta Spodenkiewicz, Mylène Tharreau, Janneke H. M. Schuurs-Hoeijmakers
| Nature Verified
Abstract PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Although core clinical features have been delineated, systematic data on developmental milestones, growth parameters, and clinical variability remain limited.
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