Publications scientifiques

Publications

• 2015

  • Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    • Mathilde Huckert
    • Corinne Stoetzel
    • Supawich Morkmued
    • Virginie Laugel-Haushalter
    • Véronique Geoffroy
    • Jean Muller
    • François Clauss
    • Megana Prasad
    • Frédéric Obry
    • Jean Louis Raymond
    • Marzena Switala
    • Yves Alembik
    • Sylvie Soskin
    • Eric Mathieu
    • Joseph Hemmerlé
    • Jean-Luc Weickert
    • Branka Brukner Dabovic
    • Daniel Rifkin
    • Annelies Dheedene
    • Eveline Boudin
    • ...

    Human Molecular Genetics ; Volume: 24 ; Page: 3038-3049

    HAL DOI

  • The Drosophila fragile X mental retardation protein participates in the piRNA pathway, The Drosophila fragile X mental retardation protein participates in the piRNA pathway.

    • Maria Pia Bozzetti
    • Valeria Specchia
    • Pierre Cattenoz
    • Pietro Laneve
    • Annamaria Geusa
    • H Bahar Sahin
    • Silvia Di Tommaso
    • Antonella Friscini
    • Serafina Massari
    • Celine Diebold
    • Angela Giangrande

    Journal of Cell Science ; Volume: 128 ; Page: 2070-2084

    HAL DOI

  • The Drosophila fragile X mental retardation protein participates in the piRNA pathway

    • Maria Pia Bozzetti
    • Valeria Specchia
    • Pierre Cattenoz
    • Pietro Laneve
    • Annamaria Geusa
    • H. Bahar Sahin
    • Silvia Di Tommaso
    • Antonella Friscini
    • Serafina Massari
    • Celine Diebold
    • Angela Giangrande

    Journal of Cell Science ; Volume: 128 ; Page: 2070-2084

    HAL DOI

  • Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies

    • Caroline Ramspacher
    • Emily Steed
    • Francesco Boselli
    • Rita Ferreira
    • Nathalie Faggianelli--Conrozier
    • Stephane Roth
    • Coralie Spiegelhalter
    • Nadia Messaddeq
    • Le Trinh
    • Michael Liebling
    • Nikhil Chacko
    • Federico Tessadori
    • Jeroen Bakkers
    • Jocelyn Laporte
    • Karim Hnia
    • Julien Vermot

    Cell Reports ; Volume: 11 ; Page: 1564-1576

    HAL DOI

  • Clinical massively parallel sequencing for the diagnosis of myopathies

    • Svetlana Gorokhova
    • Valerie Biancalana
    • Nicolas Lévy
    • Jocelyn Laporte
    • Marc Bartoli
    • Martin Krahn

    Revue Neurologique ; Volume: 171 ; Page: 558-571

    HAL DOI

  • DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

    • Osorio Abath Neto
    • Cristiane de Araújo Martins
    • Mary Carvalho
    • Gerson Chadi
    • Katia Werneck Seitz
    • Acary Souza Bulle Oliveira
    • Umbertina Conti Reed
    • Jocelyn Laporte
    • Edmar Zanoteli

    Genetics and Molecular Biology ; Volume: 38 ; Page: 147 - 151

    HAL DOI

  • Retinoid Receptors: Protein Structure, DNA Recognition and Structure-Function Relationships

    • William Bourguet
    • Dino Moras

    The Retinoids: Biology, Biochemistry, and Disease

    HAL

  • Structural analysis of sulindac as an inhibitor of aldose reductase and AKR1B10

    • Alexandra Cousido-Siah
    • Francesc Xavier Ruiz Figueras
    • Isidro Crespo
    • Sergio Porté
    • André Mitschler
    • Xavier Parés
    • Alberto Podjarny
    • Jaume Farrés

    Chemico-Biological Interactions ; Volume: 234 ; Page: 290-296

    HAL DOI

  • How cells build totipotency and pluripotency: nuclear, chromatin and transcriptional architecture

    • Thanh Quang Dang-Nguyen
    • Maria-Elena Torres-Padilla

    Current Opinion in Cell Biology ; Volume: 34 ; Page: 9-15

    HAL DOI

  • Orchestral maneuvers at the damaged sites in nucleotide excision repair

    • Sergey Alekseev
    • Frédéric Coin

    Cellular and Molecular Life Sciences ; Volume: 72 ; Page: 2177-2186

    HAL DOI