Publications scientifiques

Publications

• 2024

  • Loss of Sult1a1 reduces body weight and increases browning of white adipose tissue

    • Margherita Springer
    • Emmanuelle Meugnier
    • Katharina Schnabl
    • Kevin Sebastiaan Hof
    • Marie-France Champy
    • Tania Sorg
    • Benoit Petit-Demoulière
    • Natacha Germain
    • Bogdan Galusca
    • Bruno Estour
    • Hubert Vidal
    • Martin Klingenspor
    • Jörg Hager

    Frontiers in Endocrinology ; Volume: 15 ; Page: 1448107

    HAL DOI

  • Changes in AXL and/or MITF melanoma subpopulations in patients receiving immunotherapy

    • M. Willemsen
    • J. Bulgarelli
    • S.K. Chauhan
    • R.R. Lereim
    • D. Angeli
    • G. Grisendi
    • G. Krebbers
    • I. Davidson
    • J.A. Kyte
    • M. Guidoboni
    • Rosalie M Luiten
    • W.J. Bakker

    Immuno-Oncology and Technology ; Volume: 24 ; Page: 101009

    HAL DOI

  • Ocular manifestations in Koolen–de Vries syndrome: an international study

    • Dafna Shalev
    • David Koolen
    • Bert B.A. de Vries
    • Sharon Blum Meirovitch
    • Jean-Louis Mandel
    • Pauline Burger
    • Alik Rosenfeld
    • Guy Ben Simon
    • Daphna Landau Prat

    Canadian Journal of Ophthalmology ; Volume: 59 ; Page: e796-e802

    HAL DOI

  • Potential compensatory mechanisms preserving cardiac function in myotubular myopathy

    • Alix Simon
    • Nadege Diedhiou
    • David Reiss
    • Marie Goret
    • Erwan Grandgirard
    • Jocelyn Laporte

    Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476

    HAL DOI

  • Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

    • Tanja Zdolšek Draksler
    • Arianne Bouman
    • Alenka Guček
    • Erik Novak
    • Pauline Burger
    • Florent Colin
    • Tjitske Kleefstra

    European Journal of Medical Genetics ; Volume: 72 ; Page: 104974

    HAL DOI

  • First Sila-Vitamin D Analogues: Design, Synthesis, Structural Analysis and Biological Activity

    • Julian Loureiro
    • Samuel Seoane
    • Ivo Sampaio-Dias
    • Carole Peluso-Iltis
    • Thierry Guiberteau
    • Beatriz Brito
    • Carlos Gregorio
    • Román Pérez-Fernández
    • Natacha Rochel
    • Antonio Mouriño
    • José Rodríguez-Borges

    Journal of Medicinal Chemistry ; Volume: 67 ; Page: 21505-21519

    HAL DOI

  • Molecular basis of mRNA delivery to the bacterial ribosome

    • Michael Webster
    • Adrien Chauvier
    • Huma Rahil
    • Andrea Graziadei
    • Kristine Charles
    • Nataliya Miropolskaya
    • Maria Takacs
    • Charlotte Saint-André
    • Juri Rappsilber
    • Nils Walter
    • Albert Weixlbaumer

    Science ; Volume: 386

    HAL DOI

  • Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

    • Efil Bayam
    • Peggy Tilly
    • Stephan Collins
    • José Rivera Alvarez
    • Meghna Kannan
    • Lucile Tonneau
    • Elena Brivio
    • Bruno Rinaldi
    • Romain Lecat
    • Noémie Schwaller
    • Ludovica Cotellessa
    • Sateesh Maddirevula
    • Fabiola Monteiro
    • Carlos Guardia
    • João Paulo Kitajima
    • Fernando Kok
    • Mitsuhiro Kato
    • Ahlam Hamed
    • Mustafa Salih
    • Saeed Al Tala
    • ...

    EMBO Molecular Medicine ; Volume: 17 ; Page: 129-168

    HAL DOI

  • MODOMICS: a database of RNA modifications and related information. 2023 update

    • Andrea Cappannini
    • Angana Ray
    • Elżbieta Purta
    • Sunandan Mukherjee
    • Pietro Boccaletto
    • S Naeim Moafinejad
    • Antony Lechner
    • Charles Barchet
    • Bruno P. Klaholz
    • Filip Stefaniak
    • Janusz M Bujnicki

    Nucleic Acids Research ; Volume: 52 ; Page: D239 - D244

    HAL DOI

  • Remodelling of Rea1 linker domain drives the removal of assembly factors from pre-ribosomal particles

    • Johan Busselez
    • Geraldine Koenig
    • Carine Dominique
    • Torben Klos
    • Deepika Velayudhan
    • Piotr Sosnowski
    • Nils Marechal
    • Corinne Crucifix
    • Hugo Gizardin-Fredon
    • Sarah Cianferani
    • Benjamin Albert
    • Yves Henry
    • Anthony K Henras
    • Helgo Schmidt

    Nature Communications ; Volume: 15 ; Page: 10309

    HAL DOI