Sonic Hedgehog Is a Remotely Produced Cue that Controls Axon Guidance Trans-axonally at a Midline Choice Point
Peng, Jimmy, Fabre, Pierre J., Dolique, Tiphaine, Swikert, Shannon M., Kermasson, Laëtitia, Shimogori, Tomomi, Charron, Frédéric
Published in Neuron (Cambridge, Mass.) (17.01.2018)
Published in Neuron (Cambridge, Mass.) (17.01.2018)
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DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection
Bories, Charlie, Lejour, Thomas, Adolphe, Florine, Kermasson, Laëtitia, Couvé, Sophie, Tanguy, Laura, Luszczewska, Gabriela, Watzky, Manon, Poillerat, Victoria, Garnier, Pauline, Groisman, Regina, Ferlicot, Sophie, Richard, Stéphane, Saparbaev, Murat, Revy, Patrick, Gad, Sophie, Renaud, Flore
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects
Kermasson, Laëtitia, Churikov, Dmitri, Awad, Aya, Smoom, Riham, Lainey, Elodie, Touzot, Fabien, Audebert-Bellanger, Séverine, Haro, Sophie, Roger, Lauréline, Costa, Emilia, Mouf, Maload, Bottero, Adriana, Oleastro, Matias, Abdo, Chrystelle, de Villartay, Jean-Pierre, Géli, Vincent, Tzfati, Yehuda, Callebaut, Isabelle, Danielian, Silvia, Soares, Gabriela, Kannengiesser, Caroline, Revy, Patrick
Published in Blood (21.04.2022)
Published in Blood (21.04.2022)
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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome
Benyelles, Maname, O’Donohue, Marie-Françoise, Kermasson, Laëtitia, Lainey, Elodie, Borie, Raphael, Lagresle-Peyrou, Chantal, Nunes, Hilario, Cazelles, Clarisse, Fourrage, Cécile, Ollivier, Emmanuelle, Marcais, Ambroise, Gamez, Anne-Sophie, Morice-Picard, Fanny, Caillaud, Denis, Pottier, Nicolas, Ménard, Christelle, Ba, Ibrahima, Fernandes, Alicia, Crestani, Bruno, de Villartay, Jean-Pierre, Gleizes, Pierre-Emmanuel, Callebaut, Isabelle, Kannengiesser, Caroline, Revy, Patrick
Published in Human molecular genetics (15.04.2020)
Published in Human molecular genetics (15.04.2020)
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Journal Article
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Tan, Shengjiang, Kermasson, Laëtitia, Hoslin, Angela, Jaako, Pekka, Faille, Alexandre, Acevedo-Arozena, Abraham, Lengline, Etienne, Ranta, Dana, Poirée, Maryline, Fenneteau, Odile, Ducou le Pointe, Hubert, Fumagalli, Stefano, Beaupain, Blandine, Nitschké, Patrick, Bôle-Feysot, Christine, de Villartay, Jean-Pierre, Bellanné-Chantelot, Christine, Donadieu, Jean, Kannengiesser, Caroline, Warren, Alan J., Revy, Patrick
Published in Blood (18.07.2019)
Published in Blood (18.07.2019)
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Somatic genetic rescue of a germline ribosome assembly defect
Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Published in Nature communications (19.08.2021)
Published in Nature communications (19.08.2021)
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Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders
Bertrand, Alexis, Ba, Ibrahima, Kermasson, Laëtitia, Pirabakaran, Vithura, Chable, Noémie, Lainey, Elodie, Ménard, Christelle, Kallel, Faten, Picard, Capucine, Hadiji, Sondes, Coolen-Allou, Nathalie, Blanchard, Elodie, de Villartay, Jean-Pierre, Moshous, Despina, Roelens, Marie, Callebaut, Isabelle, Kannengiesser, Caroline, Revy, Patrick
Published in Human molecular genetics (20.03.2024)
Published in Human molecular genetics (20.03.2024)
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Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy
de Tocqueville, Sophie, Martin, Emmanuel, Riller, Quentin, Kermasson, Laëtitia, France, Benoit, Magérus, Aude, Rieux-Laucat, Frédéric, Delhommeau, François, Hirsch, Pierre, Touzart, Aurore, Echalier, Aude, Fischer, Alain, Moshous, Despina, Revy, Patrick
Published in British journal of haematology (04.09.2024)
Published in British journal of haematology (04.09.2024)
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A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans
Chansel-Da Cruz, Marie, Hohl, Marcel, Ceppi, Ilaria, Kermasson, Laëtitia, Maggiorella, Laurence, Modesti, Mauro, de Villartay, Jean-Pierre, Ileri, Talia, Cejka, Petr, Petrini, John H.J., Revy, Patrick
Published in Cell reports (Cambridge) (29.12.2020)
Published in Cell reports (Cambridge) (29.12.2020)
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An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation
Le Guen, Tangui, PhD, Touzot, Fabien, MD, PhD, André-Schmutz, Isabelle, PhD, Lagresle-Peyrou, Chantal, PhD, France, Benoit, MSc, Kermasson, Laetitia, Lambert, Nathalie, Picard, Capucine, MD, PhD, Nitschke, Patrick, PhD, Carpentier, Wassila, PhD, Bole-Feysot, Christine, PhD, Lim, Annick, PhD, Cavazzana, Marina, MD, PhD, Callebaut, Isabelle, PhD, Soulier, Jean, MD, PhD, Jabado, Nada, MD, PhD, Fischer, Alain, MD, PhD, de Villartay, Jean-Pierre, PhD, Revy, Patrick, PhD
Published in Journal of allergy and clinical immunology (01.12.2015)
Published in Journal of allergy and clinical immunology (01.12.2015)
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Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models
Benyelles, Maname, Episkopou, Harikleia, O'Donohue, Marie‐Françoise, Kermasson, Laëtitia, Frange, Pierre, Poulain, Florian, Burcu Belen, Fatma, Polat, Meltem, Bole‐Feysot, Christine, Langa‐Vives, Francina, Gleizes, Pierre‐Emmanuel, de Villartay, Jean‐Pierre, Callebaut, Isabelle, Decottignies, Anabelle, Revy, Patrick
Published in EMBO molecular medicine (01.07.2019)
Published in EMBO molecular medicine (01.07.2019)
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Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations
Touzot, Fabien, Kermasson, Laetitia, Jullien, Laurent, Moshous, Despina, Ménard, Christelle, Ikincioğullari, Aydan, Doğu, Figen, Sari, Sinan, Giacobbi-Milet, Vannina, Etzioni, Amos, Soulier, Jean, Londono-Vallejo, Arturo, Fischer, Alain, Callebaut, Isabelle, de Villartay, Jean-Pierre, Leblanc, Thierry, Kannengiesser, Caroline, Revy, Patrick
Published in Blood advances (29.11.2016)
Published in Blood advances (29.11.2016)
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PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice
Abramowski, Vincent, Etienne, Olivier, Elsaid, Ramy, Yang, Junjie, Berland, Aurélie, Kermasson, Laetitia, Roch, Benoit, Musilli, Stefania, Moussu, Jean-Paul, Lipson-Ruffert, Karelia, Revy, Patrick, Cumano, Ana, Boussin, François D, de Villartay, Jean-Pierre
Published in Cell death and differentiation (01.02.2018)
Published in Cell death and differentiation (01.02.2018)
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Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain
Jullien, Laurent, Kannengiesser, Caroline, Kermasson, Laetitia, Cormier-Daire, Valérie, Leblanc, Thierry, Soulier, Jean, Londono-Vallejo, Arturo, de Villartay, Jean-Pierre, Callebaut, Isabelle, Revy, Patrick
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Journal Article
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain: HUMAN MUTATION
Jullien, Laurent, Kannengiesser, Caroline, Kermasson, Laetitia, Cormier-Daire, Valérie, Leblanc, Thierry, Soulier, Jean, Londono-Vallejo, Arturo, de Villartay, Jean-Pierre, Callebaut, Isabelle, Revy, Patrick
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Characterization of an A-kinase anchoring protein-like suggests an alternative way of PKA anchoring in Plasmodium falciparum
Bandje, Kossiwa, Naissant, Bernina, Bigey, Pascal, Lohezic, Murielle, Vayssières, Marlène, Blaud, Magali, Kermasson, Laetitia, Lopez-Rubio, José-Juan, Langsley, Gordon, Lavazec, Catherine, Deloron, Philippe, Merckx, Anaïs
Published in Malaria journal (29.04.2016)
Published in Malaria journal (29.04.2016)
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Journal Article
RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability
Le Guen, Tangui, Jullien, Laurent, Schertzer, Mike, Lefebvre, Axelle, Kermasson, Laetitia, de Villartay, Jean-Pierre, Londoño-Vallejo, Arturo, Revy, Patrick
Published in M.S. Médecine sciences (01.12.2013)
Published in M.S. Médecine sciences (01.12.2013)
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RTEL1, une helicase de l'ADN essentielle a la stabilite du genome
Le Guen, Tangui, Jullien, Laurent, Schertzer, Mike, Lefebvre, Axelle, Kermasson, Laetitia, de Villartay, Jean-Pierre, Londono-Vallejo, Arturo, Revy, Patrick
Published in M.S. Médecine sciences (01.12.2013)
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Published in M.S. Médecine sciences (01.12.2013)
Journal Article
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection
Bories, Charlie, Lejour, Thomas, Adolphe, Florine, Kermasson, Laëtitia, Couvé, Sophie, Tanguy, Laura, Luszczewska, Gabriela, Watzky, Manon, Poillerat, Victoria, Garnier, Pauline, Groisman, Regina, Ferlicot, Sophie, Richard, Stéphane, Saparbaev, Murat, Revy, Patrick, Gad, Sophie, Renaud, Flore
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
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Journal Article
Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders
Kochman, Rima, Ba, Ibrahima, Yates, Maïlyn, Pirabakaran, Vithura, Gourmelon, Florian, Churikov, Dmitri, Laffaille, Marc, Kermasson, Laëtitia, Hamelin, Coline, Marois, Isabelle, Jourquin, Frédéric, Braud, Laura, Bechara, Marianne, Lainey, Elodie, Nunes, Hilario, Breton, Philippe, Penhouet, Morgane, David, Pierre, Géli, Vincent, Lachaud, Christophe, Maréchal, Alexandre, Revy, Patrick, Kannengiesser, Caroline, Saintomé, Carole, Coulon, Stéphane
Published in Genes & development (19.09.2024)
Published in Genes & development (19.09.2024)
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