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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.
Journal articles
hal-03366072v1
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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Stéphanie Rigaud
,
Marie-Claude Fondanèche
,
Nathalie Lambert
,
Benoit Pasquier
,
Véronique Mateo
et al.
Journal articles
hal-03654840v1
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Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Caroline Kannengiesser
,
Borie Raphael
,
Christelle Ménard
,
Marion Réocreux
,
Patrick Nitschké
et al.
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.
Journal articles
hal-01146848v1
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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
Mauro Modesti
,
Marie Chansel-da Cruz
,
Marcel Hohl
,
Ilaria Ceppi
,
Laëtitia Kermasson
et al.
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
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Rozemarijn Snoek
,
Julie Patat
,
Giulia Menara
et al.
Journal articles
inserm-02322309v1
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The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo
Laurent Malivert
,
Isabelle Callebaut
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Paola Rivera-Munoz
,
Alain Fischer
,
Jean-Paul Mornon
et al.
Journal articles
hal-00361521v1
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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 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.
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.
Journal articles
mnhn-03873854v1
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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.
Journal articles
hal-02458897v1
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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
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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.
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
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Geraldine Mollet
,
David Schapiro
,
Marie-Claire Daugeron
,
Weizhen Tan
,
Olivier Gribouval
et al.
Journal articles
hal-02187752v1
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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome
Shengjiang Tan
,
Laetitia Kermasson
,
Angela Hoslin
,
Pekka Jaako
,
Alexandre Faille
et al.
Journal articles
hal-02347758v1
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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.
Journal articles
pasteur-02867459v1
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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.
Journal articles
hal-00858583v1
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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
Tangui Le Guen
,
Fabien Touzot
,
Isabelle André-Schmutz
,
Chantal Lagresle-Peyrou
,
Benoit France
et al.
Journal articles
hal-01252419v1
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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-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.
Journal articles
pasteur-01295756v1
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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-03622423v1
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T cell adhesion lowers the threshold for antigen detection
Clotilde Randriamampita
,
Geneviève Boulla
,
Patrick Revy
,
Fabrice Lemaitre
,
Alain Trautmann
et al.
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.
Journal articles
hal-03330053v1
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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 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.
Journal articles
hal-01467555v1
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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.
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.
Journal articles
hal-02327835v1
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Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison
Spyros Papiris
,
Panagiotis Tsirigotis
,
Caroline Kannengiesser
,
Lykourgos Kolilekas
,
Konstantinos Gkirkas
et al.
Journal articles
hal-02347747v1
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