Scientific publications

Publications

• 2016

  • Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child.

    • Samir Laouina
    • Agnès Bloch-Zupan
    • Mustapha El Alloussi

    Clinical dysmorphology ; Volume: 26 ; Page: 114-116

    HAL DOI

  • Next-Generation Sequencing-Based Approaches for Mutation Mapping and Identification in Caenorhabditis elegans

    • Maria Doitsidou
    • Sophie Jarriault
    • Richard J Poole

    Genetics

    HAL DOI

  • The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

    • Sorana Ciura
    • Chantal Sellier
    • Maria-Letizia Campanari
    • Nicolas Charlet-Berguerand
    • Edor Kabashi

    Autophagy ; Volume: 12 ; Page: 1406-1408

    HAL DOI

  • Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis

    • Ting Xie
    • Jiurong Liang
    • Ningshan Liu
    • Caijuan Huan
    • Yanli Zhang
    • Weijia Liu
    • Maya Kumar
    • Rui Xiao
    • Jeanine d'Armiento
    • Daniel Metzger
    • Pierre Chambon
    • Virginia. E. Papaioannou
    • Barry R. Stripp
    • Dianhua Jiang
    • Paul W. Noble

    The Journal of clinical investigation ; Volume: 126 ; Page: 3063-79

    HAL DOI

  • TRF2 is recruited to the pre-initiation complex as a testis-specific subunit of TFIIA/ALF to promote haploid cell gene expression

    • Igor Martianov
    • Amandine Velt
    • Guillaume Davidson
    • Mohamed-Amin Choukrallah
    • Irwin Davidson

    Scientific Reports ; Volume: 6

    HAL DOI

  • Prokineticin receptor 1 is required for mesenchymal–epithelial transition in kidney development

    • Himanshu Arora
    • Mounia Boulberdaa
    • Rehana Qureshi
    • Verda Bitirim
    • Nadia Messadeq
    • Pascal Dollé
    • Canan G Nebigil

    FASEB Journal ; Volume: 30 ; Page: 2733-2740

    HAL DOI

  • The Flexible Ends of CENP-A Nucleosome Are Required for Mitotic Fidelity

    • Ali Hamiche
    • Yohan Roulland
    • Khalid Ouararhni
    • Mladen Naidenov
    • Lorrie Ramos
    • Muhammad Shuaib
    • Sajad hussain Syed
    • Imtiaz nizar Lone
    • Ramachandran Boopathi
    • Emeline Fontaine
    • Gabor Papai
    • Hiroaki Tachiwana
    • Thierry Gautier
    • Dimitrios Skoufias
    • Kiran Padmanabhan
    • Jan Bednar
    • Hitoshi Kurumizaka
    • Patrick Schultz
    • Dimitar Angelov
    • Stefan Dimitrov

    Molecular Cell ; Volume: 63 ; Page: 674-685

    HAL DOI

  • Reduced DICER1 Expression Bestows Rheumatoid Arthritis Synoviocytes Proinflammatory Properties and Resistance to Apoptotic Stimuli

    • Ghada Alsaleh
    • Ramzi Nehmar
    • Stephan Blüml
    • Cédric Schleiss
    • Eleonore Ostermann
    • Jean-Philippe Dillenseger
    • Amira Sayeh
    • Philippe Choquet
    • Doulaye Dembélé
    • Antoine François
    • Jean-Hugues Salmon
    • Nicodème Paul
    • Gernot Schabbauer
    • Guillaume Bierry
    • Alain Meyer
    • Jacques-Eric Gottenberg
    • Gabrielle Haas
    • Sébastien Pfeffer
    • Laurent Vallat
    • Jean Sibilia
    • ...

    Arthritis & rheumatology ; Volume: 68 ; Page: 1839-1848

    HAL DOI

  • XPR1 mutations are a rare cause of primary familial brain calcification

    • Mathieu Anheim
    • Uriel López-Sánchez
    • Donatella Giovannini
    • Anne-Claire Richard
    • Jawida Touhami
    • Ludovic N’guyen
    • Gabrielle Rudolf
    • Anne Thibault-Stoll
    • Thierry Frébourg
    • Didier Hannequin
    • Dominique Campion
    • Jean-Luc Battini
    • Marc Sitbon
    • Gaël Nicolas

    Journal of Neurology ; Volume: 263 ; Page: 1559-1564

    HAL DOI

  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

    • Paul Masurel-Paulet
    • Amélie Piton
    • Sophie Chancenotte
    • Claire Redin
    • Christel Thauvin-Robinet
    • Yvan Henrenger
    • Delphine Minot
    • Audrey Creppy
    • Marie Ruffier-Bourdet
    • Julien Thévenon
    • Paul Kuentz
    • Daphne Lehalle
    • Aurore Curie
    • Gaëlle Blanchard
    • Ezzat Ghosn
    • Marlène Bonnet
    • Mélanie Archimbaud-Devilliers
    • Frédéric Huet
    • Odile Perret
    • Nicole Philip
    • ...

    American Journal of Medical Genetics Part A ; Volume: 170 ; Page: 2103 - 2110

    HAL DOI