Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Sylvain Ernest"'
Autor:
Abdel-Majid Khatib, Rachid Lahlil, Nathalie Scamuffa, Marie-Andrée Akimenko, Sylvain Ernest, Abdderahim Lomri, Claude Lalou, Nabil G Seidah, Bruno O Villoutreix, Fabien Calvo, Geraldine Siegfried
Publikováno v:
PLoS ONE, Vol 5, Iss 7, p e11438 (2010)
BACKGROUND: In zebrafish, vascular endothelial growth factor-C precursor (proVEGF-C) processing occurs within the dibasic motif HSIIRR(214) suggesting the involvement of one or more basic amino acid-specific proprotein convertases (PCs) in this proce
Externí odkaz:
https://doaj.org/article/8ecbc363f84e4cf8b8d1221ab514e263
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Autor:
Mylène Tharreau, Aurore Garde, Sandrine Marlin, Godelieve Morel, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, Ninon Ternoy, Christian Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin‐Robinet, Frederic Tran Mau‐Them, Laurence Faivre
Publikováno v:
Tharreau, M, Garde, A, Marlin, S, Morel, G, Ernest, S, Nambot, S, Duffourd, Y, Ternoy, N, Duvillard, C, Banka, S, Philippe, C, Thauvin-Robinet, C, Mau-Them, F T & Faivre, L 2022, ' Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62642
Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of in
Autor:
Sylvain Ernest, Frédéric M. Rosa
Publikováno v:
Developmental Neurobiology. 75:961-983
MYO7A is an unconventional myosin involved in the structural organization of hair bundles at the apex of sensory hair cells (SHCs) where it serves mechanotransduction in the process of hearing and balance. Mutations of MYO7A are responsible for abnor
Autor:
François Xavier Dutrieux, Riadh Lobbardi, Sylvain Ernest, Fanny Coulpier, Frédéric M. Rosa, Sophie Lemoine, Aline Bonnet, Guillaume Lambert
Publikováno v:
Developmental Cell
Developmental Cell, 2017, 42 (5), pp.527-541.e4. ⟨10.1016/j.devcel.2017.08.004⟩
Developmental Cell, 2017, 42 (5), pp.527-541.e4. ⟨10.1016/j.devcel.2017.08.004⟩
International audience; Skeletal muscle contraction is mediated by myofibrils, complex multi-molecular scaffolds structured into repeated units, the sarcomeres. Myofibril structure and function have been extensively studied, but the molecular process
Autor:
Frédéric M. Rosa, Anna-Lila Kaushik, Lara Dirian, Marika Kapsimali, Sylvain Ernest, Guillaume Gibon
Publikováno v:
Development. 138:3473-3484
Taste buds, the taste sensory organs, are conserved in vertebrates and composed of distinct cell types, including taste receptor, basal/presynaptic and support cells. Here, we characterize zebrafish taste bud development and show that compromised Fgf
Publikováno v:
Gene Expression Patterns. 7:274-281
Anosmin-1, encoded by the KAL-1 gene, is the protein defective in the X-linked form of Kallmann syndrome. This human developmental disorder is characterized by defects in cell migration and axon target selection. Anosmin-1 is an extracellular matrix
Autor:
Sylvain, Ernest, Frédéric M, Rosa
Publikováno v:
Developmental neurobiology. 75(9)
MYO7A is an unconventional myosin involved in the structural organization of hair bundles at the apex of sensory hair cells (SHCs) where it serves mechanotransduction in the process of hearing and balance. Mutations of MYO7A are responsible for abnor
Autor:
Christine Petit, Robert Geisler, Teresa Nicolson, Gerd Jörg Rauch, Pascal Haffter, Sylvain Ernest
Publikováno v:
ResearcherID
The zebrafish (Danio rerio) possesses two mechanosensory organs believed to be homologous to each other: the inner ear, which is responsible for the senses of audition and equilibrium, and the lateral line organ, which is involved in the detection of
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 7 (2013)
Frontiers in Behavioral Neuroscience
Frontiers in Behavioral Neuroscience
As soon as zebrafish larvae start eating, they exhibit a marked aversion for bitter and acidic substances, as revealed by a consumption assay, in which fluorescent Tetrahymena serve as a feeding basis, to which various stimuli can be added. Bitter an