Publications scientifiques

Publications

• 2009

  • Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.

    • Stéphanie Pannier
    • Vincent Couloigner
    • Nadia Messaddeq
    • Monique Elmaleh-Bergès
    • Arnold Munnich
    • Raymond Romand
    • Laurence Legeai-Mallet

    BBA - Biochimica et Biophysica Acta ; Volume: 1792 ; Page: 140-7

    HAL DOI

  • Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

    • David Parry
    • Alan J. Mighell
    • Walid El-Sayed
    • Roger C. Shore
    • Ismail K. Jalili
    • Hélène Dollfus
    • Agnes Bloch-Zupan
    • Roman Carlos
    • Ian M. Carr
    • Louise M. Downey
    • Katharine M. Blain
    • David C. Mansfield
    • Mehdi Shahrabi
    • Mansour Heidari
    • Parissa Aref
    • Mohsen Abbasi
    • Michel Michaelides
    • Anthony T. Moore
    • Jennifer Kirkham
    • Chris F. Inglehearn

    American Journal of Human Genetics ; Volume: 84 ; Page: 266-73

    HAL DOI

  • Oral cobalamin (vitamin B12) treatment. An update

    • E. Andrès
    • N. Dali-Youcef
    • T. Vogel
    • K. Serraj
    • J. Zimmer

    International Journal of Laboratory Hematology ; Volume: 31 ; Page: 1-8

    HAL DOI

  • HMGB4, a Novel Member of the HMGB Family, Is Preferentially Expressed in the Mouse Testis and Localizes to the Basal Pole of Elongating Spermatids.

    • Raffaella Catena
    • Emmanuelle Escoffier
    • Cécile Caron
    • Saadi Khochbin
    • Igor Martianov
    • Irwin Davidson

    Biology of Reproduction ; Volume: 80 ; Page: 358-66

    HAL DOI

  • A structural view of translation initiation in bacteria.

    • Angelita Simonetti
    • Stefano Marzi
    • L. Jenner
    • Alexander Myasnikov
    • Pascale Romby
    • Gulnara Yusupova
    • Bruno Klaholz
    • Marat Yusupov

    Cellular and Molecular Life Sciences ; Volume: 66 ; Page: 423-36

    HAL DOI

  • Induction of thymic stromal lymphopoietin expression in keratinocytes is necessary for generating an atopic dermatitis upon application of the active vitamin D3 analogue MC903 on mouse skin.

    • Mei Li
    • Pierre Hener
    • Zhikun Zhang
    • Krishna P. Ganti
    • Daniel Metzger
    • Pierre Chambon

    Journal of Investigative Dermatology ; Volume: 129 ; Page: 498-502

    HAL DOI

  • [START domain-containing proteins: a review of their role in lipid transport and exchange]

    • Fabien Alpy
    • François Legueux
    • Laurent Bianchetti
    • Catherine Tomasetto

    Médecine/Sciences ; Volume: 25 ; Page: 181-91

    HAL

  • Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.

    • Blanche Guillon
    • Anne-Laure Bulteau
    • Marie Wattenhofer-Donzé
    • Stéphane Schmucker
    • Bertrand Friguet
    • Hélène Puccio
    • Jean-Claude Drapier
    • Cécile Bouton

    FEBS Journal ; Volume: 276 ; Page: 1036-47

    HAL DOI

  • The histone deacetylase SIRT1 controls male fertility in mice through regulation of hypothalamic-pituitary gonadotropin signaling

    • Ullas Kolthur-Seetharam
    • Katja Teerds
    • Dirk G. de Rooij
    • Olivia Wendling
    • Michael Mcburney
    • Paolo Sassone-Corsi
    • Irwin Davidson

    Biology of Reproduction ; Volume: 80 ; Page: 384-391

    HAL DOI

  • Les protéines à domaine START, des trafiquants intracellulaires de lipides [= START domain-containing proteins: a review of their role in lipid transport and exchange]

    • Fabien Alpy
    • François Legueux
    • Laurent Bianchetti
    • Catherine-Laure Tomasetto

    Médecine/Sciences ; Volume: 25 ; Page: 181-191

    HAL DOI