Scientific publications

Publications

• 2012

  • Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study

    • Jean-Baptiste Chanson
    • Yon Andoni Echaniz-Laguna
    • Frédéric Blanc
    • Arnaud Lacour
    • Laurent Ballonzoli
    • Stéphane Kremer
    • Izzie-Jacques Namer
    • Béatrice Lannes
    • Christine Tranchant
    • Patrick Vermersch
    • Jerome de Seze

    Journal of neurology, neurosurgery, and psychiatry ; Volume: 84 ; Page: 392-397

    HAL DOI

  • Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

    • Xiaolong Zhou
    • Sikandar Khan
    • Deborah Tamura
    • Takahiro Ueda
    • Jennifer Boyle
    • Emmanuel Compe
    • Jean Marc Egly
    • John Digiovanna
    • Kenneth Kraemer

    European Journal of Human Genetics ; Volume: 21 ; Page: 831-837

    HAL DOI

  • Rôles transcriptionnels des facteurs NER, Transcriptional role of NER factors

    • Izarn Iltis

    HAL

  • Implication de la région Abcg1-U2af1 dans le syndrome de Down : effets de doses de la région et rôle du gène Cbs dans les défauts de mémorisation, Implication of the Abcg1-U2af1 region in Down syndrome : dose effects of the region and the role of Cbs gene in memorisation defects

    • Damien Marechal

    HAL

  • Rrp5p, Noc1p and Noc2p form a protein module which is part of early large ribosomal subunit precursors in S. cerevisiae

    • Thomas Hierlmeier
    • Juliane Merl
    • Martina Sauert
    • Jorge Perez-Fernandez
    • Patrick Schultz
    • Astrid Bruckmann
    • Stephan Hamperl
    • Uli Ohmayer
    • Reinhard Rachel
    • Anja Jacob
    • Kristin Hergert
    • Rainer Deutzmann
    • Joachim Griesenbeck
    • Ed Hurt
    • Philipp Milkereit
    • Jochen Bassler
    • Herbert Tschochner

    Nucleic Acids Research ; Volume: 41 ; Page: 1191 - 1210

    HAL DOI

  • The role of PR-Set7 in replication licensing depends on Suv4-20h

    • David Beck
    • Adam Burton
    • Hisanobu Oda
    • Céline Ziegler-Birling
    • Maria-Elena Torres-Padilla
    • Danny Reinberg

    Genes and Development ; Volume: 26 ; Page: 2580-2589

    HAL DOI

  • SPOC1 modulates DNA repair by regulating key determinants of chromatin compaction and DNA damage response

    • Andreas Mund
    • Tobias Schubert
    • Hannah Staege
    • Sarah Kinkley
    • Kerstin Reumann
    • Malte Kriegs
    • Lauriane Fritsch
    • Valentine Battisti
    • Slimane Ait-Si-Ali
    • Anne-Sophie Hoffbeck
    • Evi Soutoglou
    • Hans Will

    Nucleic Acids Research ; Volume: 40 ; Page: 11363-11379

    HAL DOI

  • Testicular Differentiation Occurs in Absence of R-spondin1 and Sox9 in Mouse Sex Reversals.

    • Rowena Lavery
    • Anne-Amandine Chassot
    • Eva Pauper
    • Elodie P Gregoire
    • Muriel Klopfenstein
    • Dirk G de Rooij
    • Manuel Mark
    • Andreas Schedl
    • Norbert B Ghyselinck
    • Marie-Christine Chaboissier

    PLoS Genetics ; Volume: 8 ; Page: e1003170

    HAL DOI

  • Crystal structure of the 80S yeast ribosome

    • Lasse Jenner
    • Sergey Melnikov
    • Nicolas Garreau de Loubresse
    • Adam Ben-Shem
    • Madina Iskakova
    • Alexandre Urzhumtsev
    • Arturas Meskauskas
    • Jonathan Dinman
    • Gulnara Yusupova
    • Marat Yusupov

    Current Opinion in Structural Biology ; Volume: 22 ; Page: 759-767

    HAL DOI

  • Autosomal mutations and human spermatogenic failure

    • Elias El Inati
    • Jean Muller
    • Stéphane Viville

    Biochimica et Biophysica Acta - Molecular Basis of Disease ; Volume: 1822 ; Page: 1873-1879

    HAL DOI