Publications scientifiques

Publications

• 2023

  • GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome

    • Florent Colin
    • Pauline Burger
    • Timothée Mazzucotelli
    • Axelle Strehle
    • Joost Kummeling
    • Nicole Collot
    • Elyette Broly
    • Angela T. Morgan
    • Kenneth A. Myers
    • Agnès Bloch-Zupan
    • Charlotte W. Ockeloen
    • Bert B.A. de Vries
    • Tjitske Kleefstra
    • Pierre Parrend
    • David A. Koolen
    • Jean-Louis Mandel

    Genetics in Medicine Open ; Volume: 1 ; Page: 100817

    HAL DOI

  • Clustered PHD domains in KMT2/MLL proteins are attracted by H3K4me3 and H3 acetylation-rich active promoters and enhancers

    • Anna Maria Stroynowska-Czerwinska
    • Magdalena Klimczak
    • Michal Pastor
    • Asgar Abbas Kazrani
    • Katarzyna Misztal
    • Matthias Bochtler

    Cellular and Molecular Life Sciences ; Volume: 80 ; Page: 23

    HAL DOI

  • Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

    • Nicole M. Sayles
    • Jill S. Napierala
    • Josef Anrather
    • Nadege Diedhiou
    • Jixue Li
    • Marek Napierala
    • Hélène Puccio
    • Giovanni Manfredi

    Disease Models & Mechanisms ; Volume: 16 ; Page: dmm050114

    HAL DOI

  • Distinct changes in endosomal composition promote NLRP3 inflammasome activation

    • Zhirong Zhang
    • Rossella Venditti
    • Li Ran
    • Zengzhen Liu
    • Karl Vivot
    • Annette Schürmann
    • Juan Bonifacino
    • Maria Antonietta de Matteis
    • Romeo Ricci

    Nature Immunology ; Volume: 24 ; Page: 30-41

    HAL DOI

  • The Human PDZome 2.0: Characterization of a New Resource to Test for PDZ Interactions by Yeast Two-Hybrid

    • Monica Castro-Cruz
    • Frédérique Lembo
    • Jean-Paul Borg
    • Gilles Travé
    • Renaud Vincentelli
    • Pascale Zimmermann

    Membranes ; Volume: 13 ; Page: 737

    HAL DOI

  • Metalloprotease-mediated cleavage of CD95 Ligand

    • Vesna Risso
    • Mélissa Thomas
    • Blandine Guével
    • Regis Lavigne
    • Emmanuelle Com
    • Sophie Martin
    • Manon Nivet
    • Charles Pineau
    • Luc Negroni
    • Elodie Lafont
    • Eric Chevet
    • Leif A. Eriksson
    • Matthieu Le Gallo

    FEBS Journal ; Volume: 290 ; Page: 3145-3164

    HAL DOI

  • The circadian demethylation of a unique intronic deoxymethylCpG-rich island boosts the transcription of its cognate circadian clock output gene

    • Nisha Misra
    • Manohar Damara
    • Tao Ye
    • Pierre Chambon

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 120 ; Page: e2214062120

    HAL DOI

  • Type I interferonopathy due to a homozygous loss-of-inhibitory function mutation in STAT2

    • Gaofeng Zhu
    • Mihaly Badonyi
    • Lina Franklin
    • Luis Seabra
    • Gillian I. Rice
    • Auge Anne-Boland
    • Jean-François Deleuze
    • Salima El Chehadeh
    • Mathieu Anheim
    • Anne de Saint-Martin
    • Sandra Pellegrini
    • Joseph A. Marsh
    • Yanick J. Crow
    • Marie-Therese El-Daher

    Journal of Clinical Immunology ; Volume: 43 ; Page: 808-818

    HAL DOI

  • mRNA reading frame maintenance during eukaryotic ribosome translocation

    • Nemanja Milicevic
    • Lasse Jenner
    • Alexander Myasnikov
    • Marat Yusupov
    • Gulnara Yusupova

    Nature

    HAL DOI

  • Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell-death by anoikis

    • Sirine Souali-Crespo
    • Diana Condrea
    • Nadège Vernet
    • Betty Feret
    • Muriel Klopfenstein
    • Erwan Grandgirard
    • Violaine Alunni
    • Marie Cerciat
    • Matthieu Jung
    • Chloé Mayère
    • Serge Nef
    • Manuel Mark
    • Frédéric Chalmel
    • Norbert B Ghyselinck

    Development (Cambridge, England) ; Volume: 150 ; Page: dev201710

    HAL DOI