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  1. Article

    Open Access

    Angiopoietin-like 2 is essential to aortic valve development in mice

    Aortic valve (AoV) abnormalities during embryogenesis are a major risk for the development of aortic valve stenosis (AVS) and cardiac events later in life. Here, we identify an unexpected role for Angiopoietin...

    Pauline Labbé, Victoria Munoz Goyette, Nathalie Thorin-Trescases… in Communications Biology (2022)

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    Article

    Analysis of 51 cyclodipeptide synthases reveals the basis for substrate specificity

    Cyclodipeptide synthases use amino acid–loaded tRNAs as substrates to form cyclic peptide dimers. Biochemical and bioinformatic analyses now show that these enzymes are distributed into two phylogenetically di...

    Isabelle B Jacques, Mireille Moutiez, Jerzy Witwinowski… in Nature Chemical Biology (2015)

  3. Article

    Erratum to: Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease—Identification of Eight Novel Mutations in CYBB and NCF2 Genes

    Cécile Martel, Michelle Mollin, Sylvain Beaumel… in Journal of Clinical Immunology (2012)

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    Article

    Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

    Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91ph...

    Cécile Martel, Michelle Mollin, Sylvain Beaumel… in Journal of Clinical Immunology (2012)

  5. No Access

    Article

    Transcriptional and preliminary functional analysis of the six genes located in divergence of phoR/phoP in Streptomyces lividans

    Streptomyces lividans senses and adjusts to a situation of Pi limitation via the expression of genes of the pho regulon controlled by the two-component system PhoR/PhoP. Interestingly, an in sili...

    Emmanuelle Darbon, Cécile Martel… in Applied Microbiology and Biotechnology (2012)

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    Article

    Rare Duplication or Deletion of Exons 6, 7 and 8 in CYBB Leading to X-Linked Chronic Granulomatous Disease in Two Patients from Different Families

    Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O 2 − ) and other microbicidal oxidants due to mutat...

    Marie José Stasia, Karin van Leeuwen, Martin de Boer… in Journal of Clinical Immunology (2012)

  7. No Access

    Article

    Withaferin A induces apoptosis in human melanoma cells through generation of reactive oxygen species and down-regulation of Bcl-2

    A high resistance and heterogeneous response to conventional anti-cancer chemotherapies characterize malignant cutaneous melanoma, the most aggressive and deadly form of skin cancer. Withaferin A (WFA), a with...

    Eleonore Mayola, Cindy Gallerne, Davide Degli Esposti, Cecile Martel… in Apoptosis (2011)

  8. No Access

    Article

    First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

    Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components.

    Faris G. Bakri, Cécile Martel, Najwa Khuri-Bulos… in Journal of Clinical Immunology (2009)

  9. No Access

    Article

    Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

    Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O 2 − ). Th...

    Marie José Stasia, Pierre Bordigoni, Daniel Floret, Jean Paul Brion… in Human Genetics (2005)

  10. No Access

    Article

    A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4

    Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O2 –) and other microbicidal oxidants because of mutations in one of the four com...

    Marie Stasia, Pierre Bordigoni, Cécile Martel, Françoise Morel in Human Genetics (2002)