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Somatic genetic rescue of a germline ribosome assembly defect

Shengjiang Tan , Laëtitia Kermasson , Christine Hilcenko , Vasileios Kargas , David Traynor et al.
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Journal articles hal-03366072v1

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

Stéphanie Rigaud , Marie-Claude Fondanèche , Nathalie Lambert , Benoit Pasquier , Véronique Mateo et al.
Nature, 2006, 444 (7115), pp.110-114. ⟨10.1038/nature05257⟩
Journal articles hal-03654840v1

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

Caroline Kannengiesser , Borie Raphael , Christelle Ménard , Marion Réocreux , Patrick Nitschké et al.
European Respiratory Journal, 2015, 46 (2), pp.474-485. ⟨10.1183/13993003.00710-2015⟩
Journal articles hal-01214563v1
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Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Raphael Borie , Caroline Kannengiesser , Sandrine Hirschi , Jérôme Le Pavec , Hervé Mal et al.
The Journal of Heart and Lung Transplantation, 2015, 34 (4), pp.538--546. ⟨10.1016/j.healun.2014.11.010⟩
Journal articles hal-01146848v1

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

Mauro Modesti , Marie Chansel-da Cruz , Marcel Hohl , Ilaria Ceppi , Laëtitia Kermasson et al.
Cell Reports, 2020, 33 (13), pp.108559. ⟨10.1016/j.celrep.2020.108559⟩
Journal articles hal-03438613v1
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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Christelle C. Arrondel , Sophia Missoury , Rozemarijn Snoek , Julie Patat , Giulia Menara et al.
Nature Communications, 2019, 10 (1), pp.3967. ⟨10.1038/s41467-019-11951-x⟩
Journal articles inserm-02322309v1

The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo

Laurent Malivert , Isabelle Callebaut , Paola Rivera-Munoz , Alain Fischer , Jean-Paul Mornon et al.
Molecular and Cellular Biology, 2009, 29 (5), pp.1116-1122. ⟨10.1128/MCB.01521-08⟩
Journal articles hal-00361521v1

Delineation of the Xrcc4-interacting region in the globular head domain of Cernunnos/XLF

Laurent Malivert , Virginie Ropars , Marcela Nunez , Pascal Drevet , Simona Miron et al.
Journal of Biological Chemistry, 2010, 285 (34), pp.26475-26483. ⟨10.1074/jbc.M110.138156⟩
Journal articles hal-00493716v1
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Somatic genetic rescue of a germline ribosome assembly defect

Shengjiang Tan , Laëtitia Kermasson , Christine Hilcenko , Vasileios Kargas , David Traynor et al.
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Journal articles hal-03366120v1
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Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells

Anna Sole , Sandrine Grossetête , Maxime Heintzé , Loelia Babin , Sakina Zaïdi et al.
Cancer Research, 2021, 81 (19), pp.4994-5006. ⟨10.1158/0008-5472.CAN-20-3837⟩
Journal articles mnhn-03873854v1

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

Maname Benyelles , Laetitia Kermasson , Elodie Lainey , Raphael Borie , Chantal Lagresle-Peyrou et al.
Human Molecular Genetics, 2020, ⟨10.1093/hmg/ddaa011⟩
Journal articles hal-02458897v1

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

Fabien Touzot , Isabelle Callebaut , Jean Soulier , Laetitia Gaillard , Chantal Azerrad et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (22), pp.10097-102. ⟨10.1073/pnas.0914918107⟩
Journal articles hal-00484901v1

Expanding the SRI domain family: A common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II

Joseph Rebehmed , Patrick Revy , Guilhem Faure , Jean-Pierre de Villartay , Isabelle Callebaut et al.
FEBS Letters, 2014, 588 (23), pp.4431-4437. ⟨10.1016/j.febslet.2014.10.014⟩
Journal articles hal-01084875v1
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Laëtitia Kermasson , Dmitri Churikov , Aya Awad , Riham Smoom , Elodie Lainey et al.
Journal articles hal-03521570v1

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Geraldine Mollet , David Schapiro , Marie-Claire Daugeron , Weizhen Tan , Olivier Gribouval et al.
Nature Genetics, 2017, ⟨10.1038/ng.3933⟩
Journal articles hal-02187752v1

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Shengjiang Tan , Laetitia Kermasson , Angela Hoslin , Pekka Jaako , Alexandre Faille et al.
Blood, 2019, 134 (3), pp.277-290. ⟨10.1182/blood.2018893404⟩
Journal articles hal-02347758v1

Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue

Richa Sharma , Sushree Sahoo , Masayoshi Honda , Sophie Granger , Charnise Goodings et al.
Journal articles hal-03431979v1
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Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

Emilie Lesport , Alina Ferster , Armand Biver , Benoit Roch , Nadia Vasquez et al.
Oncotarget, 2017, 9 (3), pp.3779-3793. ⟨10.18632/oncotarget.23375⟩
Journal articles pasteur-02867459v1

Human RTEL1 deficiency causes Hoyeraal- Hreidarsson syndrome with short telomeres and genome instability

Tangui Leguen , Laurent Jullien , Fabien Touzot , Michael Schertzer , Laetitia Gaillard et al.
Human Molecular Genetics, 2013, 22 (16), pp.3239-3249. ⟨10.1093/hmg/ddt178⟩
Journal articles hal-00858583v1

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

Tangui Le Guen , Fabien Touzot , Isabelle André-Schmutz , Chantal Lagresle-Peyrou , Benoit France et al.
Journal of Allergy and Clinical Immunology, 2015, 136, pp.1619-26. ⟨10.1016/j.jaci.2015.06.008⟩
Journal articles hal-01252419v1

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Richa Sharma , Sushree Sahoo , Masayoshi Honda , Sophie Granger , Charnise Goodings et al.
Blood, 2022, 139 (7), pp.1039-1051. ⟨10.1182/blood.2021011980⟩
Journal articles hal-03622424v1
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RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

Chloé Lescale , Vincent Abramowski , Marie Bedora-Faure , Valentine Murigneux , Gabriella Vera et al.
Nature Communications, 2016, 7, pp.Article number:10529. ⟨10.1038/ncomms10529⟩
Journal articles pasteur-01295756v1

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

Laëtitia Kermasson , Dmitri Churikov , Aya Awad , Riham Smoom , Elodie Lainey et al.
Journal articles hal-03622423v1

T cell adhesion lowers the threshold for antigen detection

Clotilde Randriamampita , Geneviève Boulla , Patrick Revy , Fabrice Lemaitre , Alain Trautmann et al.
European Journal of Immunology, 2003, 33 (5), pp.1215-1223. ⟨10.1002/eji.200323844⟩
Journal articles hal-03007921v1
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Somatic genetic rescue of a germline ribosome assembly defect

Shengjiang Tan , Laëtitia Kermasson , Christine Hilcenko , Vasileios Kargas , David Traynor et al.
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Journal articles hal-03330053v1

A new Rubisco-like protein coexists with a photosynthetic Rubisco in the planktonic cyanobacteria Microcystis

Isabelle Callebaut , Laurent Malivert , Alain Fischer , Jean-Paul Mornon , Patrick Revy et al.
Journal of biology and chemistry, 2006, 281, pp.13857-13860. ⟨10.1074/jbc.C500473200⟩
Journal articles hal-00113491v1
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Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

Raphael Borie , L. Tabèze , Gabriel Thabut , Hilario Nunes , Vincent Cottin et al.
European Respiratory Journal, 2016, 48 (6), pp.1721--1731. ⟨10.1183/13993003.02115-2015⟩
Journal articles hal-01467555v1

Regulator of telomere length 1 ( RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

Raphael Borie , Diane Bouvry , Vincent Cottin , Clement Gauvain , Aurélie Cazes et al.
European Respiratory Journal, 2019, 53 (2), pp.1800508. ⟨10.1183/13993003.00508-2018⟩
Journal articles hal-02347765v1
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Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

Maname Benyelles , Harikleia Episkopou , Marie-Françoise O'Donohue , Laetitia Kermasson , Pierre Frange et al.
EMBO Molecular Medicine, 2019, 11 (7), pp.e10201. ⟨10.15252/emmm.201810201⟩
Journal articles hal-02327835v1

Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison

Spyros Papiris , Panagiotis Tsirigotis , Caroline Kannengiesser , Lykourgos Kolilekas , Konstantinos Gkirkas et al.
Respiratory Research, 2019, 20 (1), pp.182. ⟨10.1186/s12931-019-1151-6⟩
Journal articles hal-02347747v1