Publications scientifiques

Publications

• 2020

  • Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

    • Zhengzheng S Liang
    • Irene Cimino
    • Binnaz Yalcin
    • Narayanan Raghupathy
    • Valerie E Vancollie
    • Ximena Ibarra-Soria
    • Helen V Firth
    • Debra Rimmington
    • I Sadaf Farooqi
    • Christopher J Lelliott
    • Steven C Munger
    • Stephen O’rahilly
    • Anne C Ferguson-Smith
    • Anthony P Coll
    • Darren W Logan

    PLoS Genetics ; Volume: 16 ; Page: e1008916.

    HAL DOI

  • Mutation of Arginine 264 on ERα (Estrogen Receptor Alpha) Selectively Abrogates the Rapid Signaling of Estradiol in the Endothelium Without Altering Fertility

    • Marine Adlanmerini
    • Chanaëlle Febrissy
    • Rana Zahreddine
    • Emilie Vessières
    • Melissa Buscato
    • Romain Solinhac
    • Julie Favre
    • Typhaine Anquetil
    • Anne-Laure Guihot
    • Frederic Boudou
    • Isabelle Raymond-Letron
    • Pierre Chambon
    • Pierre Gourdy
    • Claes Ohlsson
    • Henrik Laurell
    • Coralie Fontaine
    • Raphaël Métivier
    • Muriel Le Romancer
    • Daniel Henrion
    • Jean‐françois Arnal
    • ...

    Arteriosclerosis, Thrombosis, and Vascular Biology ; Volume: 40 ; Page: 2143-2158

    HAL DOI

  • A dominant vimentin variant causes a rare syndrome with premature aging

    • Benjamin Cogné
    • Jamal-Eddine Bouameur
    • Gaëlle Hayot
    • Xenia Latypova
    • Sundararaghavan Pattabiraman
    • Amandine Caillaud
    • Karim Si-Tayeb
    • Thomas Besnard
    • Sébastien Küry
    • Caroline Chariau
    • Anne Gaignerie
    • Laurent David
    • Philippe Bordure
    • Daniel Kaganovich
    • Stéphane Bézieau
    • Christelle Golzio
    • Thomas Magin
    • Bertrand Isidor

    European Journal of Human Genetics ; Volume: 28 ; Page: 1218-1230

    HAL DOI

  • First Responders Shape a Prompt and Sharp NF-κB-Mediated Transcriptional Response to TNF-α

    • Samuel Zambrano
    • Alessia Loffreda
    • Elena Carelli
    • Giacomo Stefanelli
    • Federica Colombo
    • Edouard Bertrand
    • Carlo Tacchetti
    • Alessandra Agresti
    • Marco Bianchi
    • Nacho Molina
    • Davide Mazza

    iScience ; Volume: 23 ; Page: 101529

    HAL DOI

  • Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

    • Angela Helfricht
    • Peter Thijssen
    • Magdalena Rother
    • Rashmi Shah
    • Likun Du
    • Sanami Takada
    • Mélanie Rogier
    • Jacques Moritz
    • Hanna Ijspeert
    • Chantal Stoepker
    • Monique van Ostaijen-ten Dam
    • Vincent Heyer
    • Martijn Luijsterburg
    • Anton de Groot
    • Rianca Jak
    • Gwendolynn Grootaers
    • Jun Wang
    • Pooja Rao
    • Alfred Vertegaal
    • Maarten van Tol
    • ...

    Journal of Experimental Medicine ; Volume: 217

    HAL DOI

  • CRISPR/Cas9-Induced Breaks in Heterochromatin, Visualized by Immunofluorescence

    • Ioanna Mitrentsi
    • Evi Soutoglou

    Methods in Molecular Biology ; Volume: 2153 ; Page: 439-445

    HAL DOI

  • Structural basis for DNA recognition and allosteric control of the retinoic acid receptors RAR–RXR

    • Judit Osz
    • Alastair G Mcewen
    • Maxime Bourguet
    • Frédéric Przybilla
    • Carole Peluso-Iltis
    • Pierre Poussin-Courmontagne
    • Yves Mély
    • Sarah Cianférani
    • Cy M Jeffries
    • Dmitri I Svergun
    • Natacha Rochel

    Nucleic Acids Research ; Volume: 48 ; Page: 9969 - 9985

    HAL DOI

  • Different views of the dynamic landscape covered by the 5'-hairpin of the 7SK small nuclear RNA

    • Karl Brillet
    • Denise Martinez-Zapien
    • Guillaume Bec
    • Eric Ennifar
    • Anne Catherine Dock Bregeon
    • Isabelle Lebars

    RNA ; Volume: 26 ; Page: 1184-1197

    HAL DOI

  • Joint Consultation by a Neurogeneticist of Movement Disorders and a Psychodynamic Psychotherapist: An Occasion for Subjectivization

    • Olivier Putois
    • Marie-Frédérique Bacqué
    • Mathieu Anheim

    Frontiers in Psychology ; Volume: 11 ; Page: 1828

    HAL DOI

  • Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

    • Andreas Traschütz
    • Tommaso Schirinzi
    • Lucia Laugwitz
    • Nathan Murray
    • Craig Bingman
    • Selina Reich
    • Jan Kern
    • Anna Heinzmann
    • Gessica Vasco
    • Enrico Bertini
    • Ginevra Zanni
    • Alexandra Durr
    • Stefania Magri
    • Franco Taroni
    • Alessandro Malandrini
    • Jonathan Baets
    • Peter de Jonghe
    • Willem de Ridder
    • Matthieu Bereau
    • Stephanie Demuth
    • ...

    Annals of Neurology ; Volume: 88 ; Page: 251-263

    HAL DOI