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12 results on '"Kermasson, Laetitia"'

2. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Author

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, and Revy, Patrick

Published
2022
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3. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Author

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., and Revy, Patrick

Published
2019
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4. An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

Author

Le Guen, Tangui, Touzot, Fabien, André-Schmutz, Isabelle, Lagresle-Peyrou, Chantal, France, Benoit, Kermasson, Laetitia, Lambert, Nathalie, Picard, Capucine, Nitschke, Patrick, Carpentier, Wassila, Bole-Feysot, Christine, Lim, Annick, Cavazzana, Marina, Callebaut, Isabelle, Soulier, Jean, Jabado, Nada, Fischer, Alain, de Villartay, Jean-Pierre, and Revy, Patrick

Published
2015
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6. Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

Author

Benyelles, Maname, Episkopou, Harikleia, O'Donohue, Marie-Françoise, Kermasson, Laetitia, 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, Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Université catholique de Louvain, Institut des Sciences de la Vie, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement [IRD] : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Genetic and Epigenetic Alterations of Genomes (GEAG), Université Catholique de Louvain (UCL)-de Duve Institute, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Genome dynamics in the immune system (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Catholique de Louvain = Catholic University of Louvain (UCL), Laboratoire de biologie moléculaire eucaryote (LBME), Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection à VIH, réservoirs, diversité génétique et résistance aux antirétroviraux (ARV) (EA 7327), Université Paris Descartes - Paris 5 (UPD5), Başkent University Hospital [Adana, Turkey], Pamukkale University, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Centre d'Ingénierie génétique murine - Mouse Genetics Engineering Center (CIGM), Institut Pasteur [Paris], This work has been supported by institutional grants from INSERM, Ligue Nationale contre le Cancer (Equipe Labellisée La Ligue), Institut National du Cancer INCa, GIS‐Institut des maladies rares, and FNRS (Fonds National de la Recherche Scientifique, Belgium). P.E.G. and M.F.O. are supported by Agence Nationale de la Recherche (ANR 2015 AAP générique CE12‐0001‐DBA Multigenes), and the EuroDBA project is funded by the ERA‐NET program E‐RAR3 (ANR‐15‐RAR3‐0007‐04). P.R. and M.F.O. are scientists from Centre National de la Recherche Scientifique (CNRS). H.E. and F.P. were supported by grants from the Télévie/FNRS and FRIA/FNRS. A.D. is a scientist from the FNRS., ANR-15-CE12-0001,DBA-MULTIGENES,DBA-MULTIGENES: identification et caractérisation de gènes candidats pour la découverte de nouveaux mécanismes physiopathologiques à l'origine de l'anémie de Blackfan-Diamond.(2015), ANR-15-RAR3-0007,EuroDBA,The European Diamond-Blackfan Anemia Consortium(2015), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP), O'Donohue, Marie-Françoise, DBA-MULTIGENES: identification et caractérisation de gènes candidats pour la découverte de nouveaux mécanismes physiopathologiques à l'origine de l'anémie de Blackfan-Diamond. - - DBA-MULTIGENES2015 - ANR-15-CE12-0001 - AAPG2015 - VALID, The European Diamond-Blackfan Anemia Consortium - - EuroDBA2015 - ANR-15-RAR3-0007 - E-Rare-3 - VALID, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, p53, Medicine (General), [SDV]Life Sciences [q-bio], Høyeraal–Hreidarsson syndrome, QH426-470, MESH: Mice, Knockout, Chromatin, Epigenetics, Genomics & Functional Genomics, Shelterin Complex, Mice, MESH: Animals, rRNA, ComputingMilieux_MISCELLANEOUS, Mice, Knockout, Fetal Growth Retardation, Articles, Telomere, Child, Preschool, MESH: Exoribonucleases, Microcephaly, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, shelterin, PARN, MESH: Fetal Growth Retardation, Telomere-Binding Proteins, Høyeraal-Hreidarsson syndrome, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, MESH: Microcephaly, Dyskeratosis Congenita, Article, MESH: Telomere Homeostasis, MESH: Intellectual Disability, R5-920, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Intellectual Disability, Genetics, Animals, Humans, MESH: Mice, MESH: Humans, MESH: Child, Preschool, Telomere Homeostasis, MESH: Male, Disease Models, Animal, MESH: Dyskeratosis Congenita, RNA, Ribosomal, Exoribonucleases, MESH: RNA, Ribosomal, Genetics, Gene Therapy & Genetic Disease, MESH: Disease Models, Animal, MESH: Telomere, MESH: Female
Abstract

International audience; PARN, poly(A)-specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal-Hreidarsson (HH) syndrome, a rare telomere biology disorder that, because of its severity, is likely not exclusively due to hTR down-regulation. Whether PARN deficiency was affecting the expression of telomere-related genes was still unclear. Using cells from two unrelated HH individuals carrying novel PARN mutations and a human PARN knock-out (KO) cell line with inducible PARN complementation, we found that PARN deficiency affects both telomere length and stability and down-regulates the expression of TRF1, TRF2, TPP1, RAP1, and POT1 shelterin transcripts. Down-regulation of dyskerin-encoding DKC1 mRNA was also observed and found to result from p53 activation in PARN-deficient cells. We further showed that PARN deficiency compromises ribosomal RNA biogenesis in patients' fibroblasts and cells from heterozygous Parn KO mice. Homozygous Parn KO however resulted in early embryonic lethality that was not overcome by p53 KO. Our results refine our knowledge on the pleiotropic cellular consequences of PARN deficiency.

Published
2018

7. PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice

Author

Abramowski, Vincent, primary, Etienne, Olivier, additional, Elsaid, Ramy, additional, Yang, Junjie, additional, Berland, Aurélie, additional, Kermasson, Laetitia, additional, Roch, Benoit, additional, Musilli, Stefania, additional, Moussu, Jean-Paul, additional, Lipson-Ruffert, Karelia, additional, Revy, Patrick, additional, Cumano, Ana, additional, Boussin, François D, additional, and de Villartay, Jean-Pierre, additional

Published
2017
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8. Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Author

Touzot, Fabien, primary, Kermasson, Laetitia, additional, Jullien, Laurent, additional, Moshous, Despina, additional, Ménard, Christelle, additional, Ikincioğullari, Aydan, additional, Doğu, Figen, additional, Sari, Sinan, additional, Giacobbi-Milet, Vannina, additional, Etzioni, Amos, additional, Soulier, Jean, additional, Londono-Vallejo, Arturo, additional, Fischer, Alain, additional, Callebaut, Isabelle, additional, de Villartay, Jean-Pierre, additional, Leblanc, Thierry, additional, Kannengiesser, Caroline, additional, and Revy, Patrick, additional

Published
2016
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9. Characterization of an A-kinase anchoring protein-like suggests an alternative way of PKA anchoring in Plasmodium falciparum

Author

Bandje, Kossiwa, primary, Naissant, Bernina, additional, Bigey, Pascal, additional, Lohezic, Murielle, additional, Vayssières, Marlène, additional, Blaud, Magali, additional, Kermasson, Laetitia, additional, Lopez-Rubio, José-Juan, additional, Langsley, Gordon, additional, Lavazec, Catherine, additional, Deloron, Philippe, additional, and Merckx, Anaïs, additional

Published
2016
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10. PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice

Author

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, and de Villartay, Jean-Pierre

Abstract

The repair of DNA double-stranded breaks (DNAdsb) through non-homologous end joining (NHEJ) is a prerequisite for the proper development of the central nervous system and the adaptive immune system. Yet, mice with Xlf or PAXX loss of function are viable and present with very mild immune phenotypes, although their lymphoid cells are sensitive to ionizing radiation attesting for the role of these factors in NHEJ. In contrast, we show here that mice defective for both Xlf and PAXX are embryonically lethal owing to a massive apoptosis of post-mitotic neurons, a situation reminiscent to XRCC4 or DNA Ligase IV KO conditions. The development of the adaptive immune system in Xlf-/-PAXX-/-E18.5 embryos is severely affected with the block of B- and T-cell maturation at the stage of IgH and TCRß gene rearrangements, respectively. This damaging phenotype highlights the functional nexus between Xlf and PAXX, which is critical for the completion of NHEJ-dependent mechanisms during mouse development.

Published
2018
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12. [RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Author

Le Guen T, Jullien L, Schertzer M, Lefebvre A, Kermasson L, de Villartay JP, Londoño-Vallejo A, and Revy P

Subjects
Animals, DNA Helicases genetics, DNA Repair, Dyskeratosis Congenita genetics, Fetal Growth Retardation genetics, Genetic Phenomena genetics, Genetic Phenomena physiology, Genomic Instability genetics, Humans, Intellectual Disability genetics, Mice, Microcephaly genetics, Mutation, Telomere physiology, DNA Helicases physiology, Genomic Instability physiology
Abstract

RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson (HH) syndrome, a rare and severe variant of DC. We here summarize the current knowledge on RTEL1 and discuss the possible other functions that RTEL1 could play., (© 2013 médecine/sciences – Inserm.)

Published
2013
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