Scientific publications

Publications

• 2021

  • Article in a journal

    Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

    • Salima El Chehadeh
    • Anne Legrand
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Clarisse Billon
    • Salma Adham
    • Xavier Jeunemaître
    • Roland Jaussaud
    • Jean Muller
    • Elise Schaefer
    • Karelle Benistan
    • Sébastien Gaertner
    • Agnès Bloch‐zupan
    • Aymeric Courval
    • Marie‐cécile Manière
    • Catherine Petit
    • Anne‐claire Bursztejn
    • Laurence Bal
    • Anthony Reyre
    • Agathe Chammas
    • ...

    Clinical Genetics ; Volume: 100 ; Page: 206-212

    HAL DOI

  • Article in a journal

    A Path to the Atomic-Resolution Structures of Prokaryotic and Eukaryotic Ribosomes

    • Gulnara Yusupova
    • Marat Yusupov

    Биохимия / Biochemistry ; Volume: 86 ; Page: 926-941

    HAL DOI

  • Article in a journal

    Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

    • Roberto Silva-Rojas
    • Vasugi Nattarayan
    • Francisco Jaque-Fernandez
    • Raquel Gomez-Oca
    • Alexia Menuet
    • David Reiss
    • Marie Goret
    • Nadia Messaddeq
    • Valentina M Lionello
    • Christine Kretz
    • Belinda S Cowling
    • Vincent Jacquemond
    • Jocelyn Laporte

    Molecular Therapy

    HAL DOI

  • Article in a journal

    An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

    • Raul Juntas Morales
    • Aurélien Perrin
    • Guilhem Solé
    • Delphine Lacourt
    • Henri Pegeot
    • Ulrike Walther-Louvier
    • Pascal Cintas
    • Claude Cances
    • Caroline Espil
    • Corinne Theze
    • Reda Zenagui
    • Kevin Yauy
    • Elodie Cosset
    • Dimitri Renard
    • Valerie Rigau
    • Andre Maues de Paula
    • Emmanuelle Uro-Coste
    • Marie-Christine Arne-Bes
    • Marie-Laure Martin Négrier
    • Nicolas Leboucq
    • ...

    Genes ; Volume: 12 ; Page: 1199

    HAL DOI

  • Article in a journal

    Single-cell analyses unravel cell type–specific responses to a vitamin D analog in prostatic precancerous lesions

    • Mohamed Abu El Maaty
    • Elise Grelet
    • Céline Keime
    • Anna-Isavella Rerra
    • Justine Gantzer
    • Camille Emprou
    • Julie Terzic
    • Régis Lutzing
    • Jean-Marc Bornert
    • Gilles Laverny
    • Daniel Metzger

    Science Advances ; Volume: 7

    HAL DOI

  • Article in a journal

    Detection of Pneumocystis jirovecii in Patients with Severe COVID-19: Diagnostic and Therapeutic Challenges

    • Victor Gerber
    • Yvon Ruch
    • Thiên-Nga Chamaraux-Tran
    • Walid Oulehri
    • Francis Schneider
    • Veronique Lindner
    • Valentin Greigert
    • Julie Denis
    • Julie Brunet
    • François Danion

    Journal of Fungi ; Volume: 7 ; Page: 585

    HAL DOI

  • Article in a journal

    The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model

    • Yixing Wu
    • Heather T Whittaker
    • Suzanna Noy
    • Karen Cleverley
    • Veronique Brault
    • Yann Herault
    • Elizabeth M C Fisher
    • Frances K Wiseman

    PLoS ONE ; Volume: 16

    HAL DOI

  • Article in a journal

    Dendritic Cells Require TMEM176A/B Ion Channels for Optimal MHC Class II Antigen Presentation to Naive CD4 + T Cells

    • Melanie Lancien
    • Geraldine Bienvenu
    • Sonia Salle
    • Lucile Gueno
    • Magalie Feyeux
    • Emmanuel Merieau
    • Severine Remy
    • Amandine Even
    • Aurelie Moreau
    • Alice Molle
    • Cynthia Fourgeux
    • Flora Coulon
    • Gaelle Beriou
    • Laurence Bouchet-Delbos
    • Elise Chiffoleau
    • Peggy Kirstetter
    • Susan Chan
    • Steven Kerfoot
    • Saeed Abdu Rahiman
    • Veronica de Simone
    • ...

    Journal of Immunology ; Volume: 207 ; Page: 421-435

    HAL DOI

  • Article in a journal

    Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society

    • Mara Dierssen
    • Yann Herault
    • Pablo Helguera
    • Maria Martínez de Lagran
    • Anna Vazquez
    • Bradley Christian
    • Maria Carmona-Iragui
    • Frances Wiseman
    • William Mobley
    • Elizabeth M.C. Fisher
    • Veronique Brault
    • Anna Esbensen
    • Lisa Jacola
    • Marie Claude Potier
    • Eric Hamlett
    • Leonard Abbeduto
    • Laura del Hoyo Soriano
    • Jorge Busciglio
    • Maria Florencia Iulita
    • John Crispino
    • ...

    Molecular Syndromology ; Volume: 12 ; Page: 202-218

    HAL DOI

  • SUPT3H-less SAGA coactivator can assemble and function without significantly perturbing RNA polymerase II transcription in mammalian cells

    • Veronique Fischer
    • Elisabeth Scheer
    • Elisabeth Lata
    • Bastian Morlet
    • Damien Plassard
    • Stéphane D. Vincent
    • Dominique Helmlinger
    • Didier Devys
    • László Tora

    Cold Spring Harbor Laboratory

    DOI