Sur la page PubMed vous trouverez la plupart des publications. Cette sélection n'est pas exhaustive.

Cliquez sur les mots soulignés pour accéder à la lecture des publications.

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• NEW RESEARCH ARTICLE "Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling" François Lecoquierre ,Nathalie Drouot,Sophie Coutant,Olivier Quenez,Steeve Fourneaux,Fanny Jumeau,Nathalie Rives,Françoise Charbonnier,Céline Derambure,Anne Boland,Robert Olaso,Vincent Meyer,Jean-François Deleuze, [ ... ],Gaël Nicolas - March 31, 2025

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• NEW SCIENTIFIC REPORT "Lifespan in rodents with MYT1L heterozygous mutation" Allyson Schreiber, Raylynn G. Swift, Leslie Wilson, Kristen L. Kroll, Joseph D. Dougherty & Susan E. Maloney - NATURE - 10 February 2025

 

• NEW ARTICLE "MYT1L deficiency impairs excitatory neuron trajectory during cortical development" Allen Yen, Simona Sarafinovska, Xuhua Chen, Dominic D. Skinner, Fatjon Leti, MariaLynn Crosby, Jessica Hoisington-Lopez, Yizhe Wu, Jiayang Chen, Zipeng A. Li, Kevin K. Noguchi, Robi D. Mitra & Joseph D. Dougherty - NATURE- 27 November 2024​

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• CASE REPORT "Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant" Silas Yip, Kristina Calli, Ying Qiao, Brett Trost, Stephen W. Scherer and M. E. Suzanne Lewis - MDPI - 24 November 2023

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• CLINICAL COMMENTARY "MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy" Silvia Boeri, Marcello Scala, Francesca Madia, Francesca Perucco, Diego Vozzi, Valeria Capra, Federico Zara, Lino Nobili, Maria Margherita Mancardi - EPILEPTIC DISORDERS - July 2023

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•  "Overexpression of OLIG2 and MYT1L Transcription Factors Enhance the Differentiation Potential of Human Mesenchymal Stem Cells into Oligodendrocytes", Ifrah Fahim and al - MDPI, published 7 May 2023

 

• " 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review", Malek Bouassida et al - European Journal of Human Genetics, published on line : may 15, 2023

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• "MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain", Jiayang Chen et al - Genome Research, published on line : April 26, 2023

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•  "MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention", Moritz Mall et al - Molecular Psychiatry, Nature, published on line : 14 february 2023

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• "MYT1L in the making: emerging insights on functions of a neurodevelopmental disorder gene"

Jiayang Chen, Allen Yen , Colin P. Florian and Joseph D. Dougherty, Translational Psychiatry (www.nature.com), 2022-07-22

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•  "Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice"

Markus Wöhr, Wendy M. Fong6, Justyna A. Janas6, Moritz Mall6, Christian Thome6 , Madhuri Vangipuram6 , Lingjun Meng6, Thomas C. Südhof and Marius Wernig6, Molecular Autism, 2022

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• Article de presse : "Cluster of traits tied to rare mutations in autism-linked gene", by Anna Goshua,  20/12/ 2021, Spectrum

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• Article de presse "Jake’s mice: Searching for answers to the puzzle of autism", by Laura Unga, January 2, 2022

 

• Article de commentaire :  Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation

Aniket Bhattacharya and M. Chiara Manzini, décembre 2021, Neuron

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• !! UP DATE A THE END (2024) A MYT1L Syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation

Jiayang Chen et al, décembre 2021, Neuron 

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• 📍Trouble neurodéveloppemental associé à MYT1L : description de 40 nouveaux cas et revue de la littérature sur les aspects cliniques et moléculaires

A.M. Guerrot, J. Coursimault, F. Lecoquierre et al, novembre 2021, Human Genetics

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• Neuf individus nouvellement identifiés affinent le phénotype associé aux mutations MYT1L

Isabelle C Windheuser et al, February 2020, American Journal of Medical Genetics

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• MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Blanchet et al., 2017, Plos Genetics

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• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity"

Nina De Rocker et al, June 2015, Genetics in Medicine

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•   A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

Maria Clara Bonaglia, Roberto Giorda and Sergio Zanini, 2014, Molecular Cytogenetics

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• Direct conversion of fibroblasts to functional neurons by defined factors

Thomas Vierbuchen et al, 2010, Nature

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• Myelin transcription factor 1 (Myt1) of the oligodendrocyte lineage, along with a closely related CCHC zinc finger, is expressed in developing neurons in the mammalian central nervous system

Kim et al, 1997, Neuroscience Research

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• 📍 Novel member of the zinc finger superfamily: a C(2)-HC finger that recognizes a glia-specific gene

Kim, J. G., Hudson, L. D, 1992, Medical Genetics