Recherche - Archive ouverte HAL

44 résultats

	Pour les 44 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		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⟩ Article dans une revue hal-01214563v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-03654840v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis Pierre-Antoine Juge , Raphaël Borie , Caroline Kannengiesser , Steven Gazal , Patrick Revy , et al. European Congress of Rheumatology, Jun 2017, Madrid (ES), Spain Poster de conférence inserm-04161379v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-01146848v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-03438613v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue inserm-02322309v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue pasteur-02867459v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-01252419v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-00858583v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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, 2021, ⟨10.1182/blood.2021011980⟩ Article dans une revue hal-03431979v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-03622424v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-02347758v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-00361521v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome Maname Benyelles , Marie-Françoise O’donohue , Laëtitia Kermasson , Elodie Lainey , Raphael Borie , et al. Human Molecular Genetics, 2020, 29 (6), pp.907-922. ⟨10.1093/hmg/ddaa011⟩ Article dans une revue hal-04516980v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-00493716v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue mnhn-03873854v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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 FEBS Letters, 2014, 588 (23), pp.4431-4437. ⟨10.1016/j.febslet.2014.10.014⟩ Article dans une revue hal-01084875v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-00484901v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-02458897v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-02187752v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A disease-causing single amino-acid deletion in the coiled-coil domain of RAD50 impairs MRE11 complex functions in yeast and humans Marie Chansel-da Cruz , Marcel Hohl , Ilaria Ceppi , Laëtitia Kermasson , Laurence Maggiorella , et al. Cell Reports, In press Article dans une revue hal-03027155v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains Guilhem Faure , Patrick Revy , Michael Schertzer , Arturo Londono-Vallejo , Isabelle Callebaut Proteins - Structure, Function and Bioinformatics, 2014, 82, pp.897-903 Article dans une revue hal-01002499v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cernunnos Interacts with the XRCC4 DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1. Isabelle Callebaut , Laurent Malivert , Alain Fischer , Jean-Paul Mornon , Patrick Revy , et al. Journal of Biological Chemistry, 2006, 281, pp.13857-13860 Article dans une revue hal-00068830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation Despina Moshous , Emmanuel Martin , Wassila Carpentier , Annick Lim , Isabelle Callebaut , et al. Journal of Allergy and Clinical Immunology, 2013, 131 (6), pp.1594-1603.e9. ⟨10.1016/j.jaci.2013.01.042⟩ Article dans une revue hal-02565338v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining Virginie Ropars , Pascal Drevet , Pierre Legrand , Sonia Baconnais , Jeremy Amram , et al. Proceedings of the National Academy of Sciences of the United States of America, 2011, 108, pp.12663-12668. ⟨10.1073/pnas.1100758108/-/DCSupplemental⟩ Article dans une revue hal-00613194v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS Matthieu Gratia , Mathieu Rodéro , Cécile Conrad , Elias Bou Samra , Mathieu L Maurin , et al. Journal of Experimental Medicine, 2019, 216 (5), pp.jem.20181329. ⟨10.1084/jem.20181329⟩ Article dans une revue pasteur-02119258v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA Michael Schertzer , Karina Jouravleva , Mylène Perderiset , Florent Dingli , Damarys Loew , et al. Nucleic Acids Research, 2015, 43 (3), pp.1834-1847. ⟨10.1093/nar/gku1402⟩ Article dans une revue hal-01278052v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis Pierre-Antoine Juge , Raphaël Borie , Caroline Kannengiesser , Steven Gazal , Patrick Revy , et al. European Respiratory Journal, 2017, 49 (5), ⟨10.1183/13993003.02314-2016⟩ Article dans une revue hal-01595463v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetics of human telomere biology disorders Patrick Revy , Caroline Kannengiesser , Alison Bertuch Nature Reviews Genetics, 2022, ⟨10.1038/s41576-022-00527-z⟩ Article dans une revue hal-03795638v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First heterozygous NOP10 mutation in familial pulmonary fibrosis Caroline Kannengiesser , Effrosyni Manali , Patrick Revy , Isabelle Callebaut , Ibrahima Ba , et al. European Respiratory Journal, 2020, 55 (6), pp.1902465. ⟨10.1183/13993003.02465-2019⟩ Article dans une revue hal-02997098v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

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

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

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

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

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

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

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

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

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

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

Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells

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

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

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

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

A disease-causing single amino-acid deletion in the coiled-coil domain of RAD50 impairs MRE11 complex functions in yeast and humans

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains

Cernunnos Interacts with the XRCC4 DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Genetics of human telomere biology disorders

First heterozygous NOP10 mutation in familial pulmonary fibrosis