{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:45:13Z","timestamp":1789785913290,"version":"4.0.1"},"reference-count":55,"publisher":"Rockefeller University Press","issue":"6","funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006364","name":"Institut National du Cancer","doi-asserted-by":"publisher","award":["PLBIO11-151"],"award-info":[{"award-number":["PLBIO11-151"]}],"id":[{"id":"10.13039\/501100006364","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["ERC-2009-AdG_20090506 n\u00b0FP7-249816"],"award-info":[{"award-number":["ERC-2009-AdG_20090506 n\u00b0FP7-249816"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004099","name":"Ligue Contre le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,5,30]]},"abstract":"<jats:p>Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)\/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We analyzed a patient with mild bone marrow failure and microcephaly who did not present with the typical FA phenotype. Cells from this patient showed increased sensitivity to ionizing radiations and phleomycin, attesting to a probable DNA double strand break (dsb) repair defect. Linkage analysis and whole exome sequencing revealed a homozygous nonsense mutation in the ERCC6L2 gene. We identified a new ERCC6L2 alternative transcript encoding the DNA repair factor Hebo, which is critical for complementation of the patient\u2019s DNAdsb repair defect. Sequence analysis revealed three structured regions within Hebo: a TUDOR domain, an adenosine triphosphatase domain, and a new domain, HEBO, specifically present in Hebo direct orthologues. Hebo is ubiquitously expressed, localized in the nucleus, and rapidly recruited to DNAdsb\u2019s in an NBS1-dependent manner.<\/jats:p>","DOI":"10.1084\/jem.20151183","type":"journal-article","created":{"date-parts":[[2016,5,16]],"date-time":"2016-05-16T14:25:11Z","timestamp":1463408711000},"page":"1011-1028","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":51,"title":["A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly"],"prefix":"10.1084","volume":"213","author":[{"given":"Shu","family":"Zhang","sequence":"first","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Pondarre","sequence":"additional","affiliation":[{"name":"Institut d'H\u00e9matologie et d'Oncologie P\u00e9diatrique, 69008 Lyon, France 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaelle","family":"Pennarun","sequence":"additional","affiliation":[{"name":"Commisariat \u00e0 l'Energie Atomique, Division des Sciences du Vivant, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 967 CEA, Universit\u00e9 Paris Diderot, 75013 Paris, France 3"},{"name":"Institut de Radiobiologie Cellulaire et Mol\u00e9culaire Fontenay-aux-Roses, Universit\u00e9 Paris Sud, 91400 Orsay, France 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Labussiere-Wallet","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie, Groupement Hospitalier Lyon Sud, Hospices Civils de Lyon, 69002 Lyon, France 6"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Vera","sequence":"additional","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"France","sequence":"additional","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Chansel","sequence":"additional","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Rouvet","sequence":"additional","affiliation":[{"name":"Biotechnology Department, Hospices Civils de Lyon, 69002 Lyon, France 7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Revy","sequence":"additional","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Lopez","sequence":"additional","affiliation":[{"name":"Institut de Canc\u00e9rologie Gustave Roussy, Centre National de la Recherche Scientifique, UMR 8200, Universit\u00e9 Paris Sud, 91400 Orsay, France 5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Soulier","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 944, Centre National de la Recherche Scientifique, UMR 7212, Saint-Louis Hospital and Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, 75013 Paris, France 8"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Commisariat \u00e0 l'Energie Atomique, Division des Sciences du Vivant, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 967 CEA, Universit\u00e9 Paris Diderot, 75013 Paris, France 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Callebaut","sequence":"additional","affiliation":[{"name":"Centre National de la Recherche Scientifique, UMR 7590, Universit\u00e9 Pierre et Marie Curie, Museum National d'Histoire Naturelle, Institut de recherche pour le d\u00e9veloppement, Institut Universitaire de Canc\u00e9rologie, Sorbonne Universit\u00e9s, 75005 Paris, France 9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"de Villartay","sequence":"additional","affiliation":[{"name":"Genome Dynamics in the Immune System Laboratory, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR 1163, Institut Imagine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, 75006 Paris, France 1"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2016,5,16]]},"reference":[{"key":"2023072603360066300_bib1","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.cell.2013.01.007","article-title":"Mechanisms of programmed DNA lesions and genomic instability in the immune system","volume":"152","author":"Alt","year":"2013","journal-title":"Cell."},{"key":"2023072603360066300_bib2","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: a new generation of protein database search programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2023072603360066300_bib3","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.mrfmmm.2009.01.013","article-title":"Fanconi anemia and its diagnosis","volume":"668","author":"Auerbach","year":"2009","journal-title":"Mutat. Res."},{"key":"2023072603360066300_bib4","doi-asserted-by":"publisher","first-page":"1622","DOI":"10.1182\/blood-2014-05-574863","article-title":"Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF\/Cernunnos deficiency","volume":"124","author":"Avagyan","year":"2014","journal-title":"Blood."},{"key":"2023072603360066300_bib5","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1016\/j.cell.2006.10.043","article-title":"Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair","volume":"127","author":"Botuyan","year":"2006","journal-title":"Cell."},{"key":"2023072603360066300_bib6","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.cell.2005.12.030","article-title":"Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly","volume":"124","author":"Buck","year":"2006","journal-title":"Cell."},{"key":"2023072603360066300_bib7","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/eji.200535401","article-title":"Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV","volume":"36","author":"Buck","year":"2006","journal-title":"Eur. J. Immunol."},{"key":"2023072603360066300_bib8","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s000180050082","article-title":"Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives","volume":"53","author":"Callebaut","year":"1997","journal-title":"Cell. Mol. Life Sci."},{"key":"2023072603360066300_bib9","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/j.bbagrm.2011.06.006","article-title":"Functions of the Snf2\/Swi2 family Rad54 motor protein in homologous recombination","volume":"1809","author":"Ceballos","year":"2011","journal-title":"Biochim. Biophys. Acta."},{"key":"2023072603360066300_bib10","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.stem.2012.05.013","article-title":"Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53\/p21 DNA damage response that impairs hematopoietic stem and progenitor cells","volume":"11","author":"Ceccaldi","year":"2012","journal-title":"Cell Stem Cell."},{"key":"2023072603360066300_bib11","doi-asserted-by":"publisher","first-page":"1551","DOI":"10.1016\/j.str.2004.06.014","article-title":"The Tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding","volume":"12","author":"Charier","year":"2004","journal-title":"Structure."},{"key":"2023072603360066300_bib12","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1038\/nsmb.2353","article-title":"PHF20 is an effector protein of p53 double lysine methylation that stabilizes and activates p53","volume":"19","author":"Cui","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023072603360066300_bib13","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1038\/nri1247","article-title":"The mechanisms of immune diversification and their disorders","volume":"3","author":"de Villartay","year":"2003","journal-title":"Nat. Rev. Immunol."},{"key":"2023072603360066300_bib14","doi-asserted-by":"publisher","first-page":"9363","DOI":"10.1073\/pnas.92.20.9363","article-title":"A biomarker that identifies senescent human cells in culture and in aging skin in vivo","volume":"92","author":"Dimri","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072603360066300_bib15","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.blre.2007.11.003","article-title":"Inherited aplastic anaemias\/bone marrow failure syndromes","volume":"22","author":"Dokal","year":"2008","journal-title":"Blood Rev."},{"key":"2023072603360066300_bib16","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.cell.2005.03.026","article-title":"X-ray structures of the Sulfolobus solfataricus SWI2\/SNF2 ATPase core and its complex with DNA","volume":"121","author":"D\u00fcrr","year":"2005","journal-title":"Cell."},{"key":"2023072603360066300_bib17","doi-asserted-by":"publisher","first-page":"1726","DOI":"10.1093\/bioinformatics\/btt271","article-title":"Identification of hidden relationships from the coupling of hydrophobic cluster analysis and domain architecture information","volume":"29","author":"Faure","year":"2013","journal-title":"Bioinformatics."},{"key":"2023072603360066300_bib18","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1038\/nature12318","article-title":"53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark","volume":"499","author":"Fradet-Turcotte","year":"2013","journal-title":"Nature."},{"key":"2023072603360066300_bib19","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/S1097-2765(01)00173-3","article-title":"Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway","volume":"7","author":"Garcia-Higuera","year":"2001","journal-title":"Mol. Cell."},{"key":"2023072603360066300_bib20","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1111\/bjh.13442","article-title":"Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder","volume":"170","author":"Glousker","year":"2015","journal-title":"Br. J. Haematol."},{"key":"2023072603360066300_bib21","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1038\/nrc1012","article-title":"RecQ helicases: caretakers of the genome","volume":"3","author":"Hickson","year":"2003","journal-title":"Nat. Rev. Cancer."},{"key":"2023072603360066300_bib22","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1016\/j.ajhg.2015.04.022","article-title":"Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia","volume":"96","author":"Hira","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"2023072603360066300_bib23","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"2023072603360066300_bib24","doi-asserted-by":"publisher","first-page":"3239","DOI":"10.1093\/hmg\/ddt178","article-title":"Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability","volume":"22","author":"Le Guen","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2023072603360066300_bib25","doi-asserted-by":"publisher","first-page":"e30375","DOI":"10.1371\/journal.pone.0030375","article-title":"Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30","volume":"7","author":"Liu","year":"2012","journal-title":"PLoS One."},{"key":"2023072603360066300_bib26","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1038\/ncb945","article-title":"Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage","volume":"5","author":"Lukas","year":"2003","journal-title":"Nat. Cell Biol."},{"key":"2023072603360066300_bib27","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1038\/emboj.2012.47","article-title":"RNF8- and RNF168-dependent degradation of KDM4A\/JMJD2A triggers 53BP1 recruitment to DNA damage sites","volume":"31","author":"Mallette","year":"2012","journal-title":"EMBO J."},{"key":"2023072603360066300_bib28","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","article-title":"Comparative protein structure modeling of genes and genomes","volume":"29","author":"Mart\u00ed-Renom","year":"2000","journal-title":"Annu. Rev. Biophys. Biomol. Struct."},{"key":"2023072603360066300_bib29","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1146\/annurev-genet-102108-134222","article-title":"How the fanconi anemia pathway guards the genome","volume":"43","author":"Moldovan","year":"2009","journal-title":"Annu. Rev. Genet."},{"key":"2023072603360066300_bib30","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/humu.22461","article-title":"Extreme growth failure is a common presentation of ligase IV deficiency","volume":"35","author":"Murray","year":"2014","journal-title":"Hum. Mutat."},{"key":"2023072603360066300_bib31","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1038\/ng1129","article-title":"A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome","volume":"33","author":"O\u2019Driscoll","year":"2003","journal-title":"Nat. Genet."},{"key":"2023072603360066300_bib32","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.mrfmmm.2009.03.015","article-title":"Mouse models of Fanconi anemia","volume":"668","author":"Parmar","year":"2009","journal-title":"Mutat. Res."},{"key":"2023072603360066300_bib33","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1016\/j.cub.2010.02.046","article-title":"Repression of retroelements in Drosophila germline via piRNA pathway by the Tudor domain protein Tejas","volume":"20","author":"Patil","year":"2010","journal-title":"Curr. Biol."},{"key":"2023072603360066300_bib34","first-page":"373","article-title":"Measuring recombination proficiency in mouse embryonic stem cells","volume":"291","author":"Pierce","year":"2005","journal-title":"Methods Mol. Biol."},{"key":"2023072603360066300_bib35","doi-asserted-by":"publisher","first-page":"487","DOI":"10.3324\/haematol.13592","article-title":"Diagnosis of Fanconi anemia in patients with bone marrow failure","volume":"94","author":"Pinto","year":"2009","journal-title":"Haematologica."},{"key":"2023072603360066300_bib36","doi-asserted-by":"publisher","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat. Protoc."},{"key":"2023072603360066300_bib37","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.celrep.2015.06.014","article-title":"Deficiency of UBE2T, the E2\u00a0ubquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of fanconi anemia","volume":"12","author":"Rickman","year":"2015","journal-title":"Cell Reports."},{"key":"2023072603360066300_bib38","doi-asserted-by":"publisher","first-page":"5858","DOI":"10.1074\/jbc.273.10.5858","article-title":"DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139","volume":"273","author":"Rogakou","year":"1998","journal-title":"J. Biol. Chem."},{"key":"2023072603360066300_bib39","doi-asserted-by":"publisher","first-page":"2784","DOI":"10.1182\/blood-2014-04-526301","article-title":"Marrow failure: a window into ribosome biology","volume":"124","author":"Ruggero","year":"2014","journal-title":"Blood."},{"key":"2023072603360066300_bib40","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1146\/annurev.biochem.73.011303.073723","article-title":"Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints","volume":"73","author":"Sancar","year":"2004","journal-title":"Annu. Rev. Biochem."},{"key":"2023072603360066300_bib41","doi-asserted-by":"publisher","first-page":"1647","DOI":"10.1093\/nar\/28.7.1647","article-title":"Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3\u03b1 and 3\u03b2","volume":"28","author":"Shimamoto","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"2023072603360066300_bib42","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1146\/annurev.biochem.76.052305.115300","article-title":"Structure and mechanism of helicases and nucleic acid translocases","volume":"76","author":"Singleton","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"2023072603360066300_bib43","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.cell.2007.03.009","article-title":"Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair","volume":"129","author":"Smogorzewska","year":"2007","journal-title":"Cell."},{"key":"2023072603360066300_bib44","doi-asserted-by":"publisher","first-page":"W244","DOI":"10.1093\/nar\/gki408","article-title":"The HHpred interactive server for protein homology detection and structure prediction","volume":"33","author":"S\u00f6ding","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"2023072603360066300_bib45","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.mrrev.2012.12.004","article-title":"Disease-causing missense mutations in human DNA helicase disorders","volume":"752","author":"Suhasini","year":"2013","journal-title":"Mutat. Res."},{"key":"2023072603360066300_bib46","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1038\/nsmb.2499","article-title":"Acetylation limits 53BP1 association with damaged chromatin to promote homologous recombination","volume":"20","author":"Tang","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023072603360066300_bib47","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/nsmb919","article-title":"Structure of the SWI2\/SNF2 chromatin-remodeling domain of eukaryotic Rad54","volume":"12","author":"Thom\u00e4","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023072603360066300_bib48","doi-asserted-by":"publisher","first-page":"10097","DOI":"10.1073\/pnas.0914918107","article-title":"Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome","volume":"107","author":"Touzot","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072603360066300_bib49","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/j.jaci.2011.09.043","article-title":"Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita","volume":"129","author":"Touzot","year":"2012","journal-title":"J. Allergy Clin. Immunol."},{"key":"2023072603360066300_bib50","doi-asserted-by":"publisher","first-page":"1414","DOI":"10.1038\/nsmb.2185","article-title":"Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins","volume":"18","author":"Tripsianes","year":"2011","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023072603360066300_bib51","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.ajhg.2014.01.007","article-title":"ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function","volume":"94","author":"Tummala","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2023072603360066300_bib52","doi-asserted-by":"publisher","first-page":"5093","DOI":"10.1093\/hmg\/ddv227","article-title":"AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia","volume":"24","author":"Virts","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2023072603360066300_bib53","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1038\/nature14131","article-title":"Exit from dormancy provokes DNA-damage-induced attrition in haematopoietic stem cells","volume":"520","author":"Walter","year":"2015","journal-title":"Nature."},{"key":"2023072603360066300_bib54","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1016\/j.cell.2014.12.031","article-title":"SnapShot: Fanconi anemia and associated proteins","volume":"160","author":"Wang","year":"2015","journal-title":"Cell."},{"key":"2023072603360066300_bib55","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1083\/jcb.201009074","article-title":"Congenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair","volume":"193","author":"Zhang","year":"2011","journal-title":"J. Cell Biol."}],"container-title":["Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/213\/6\/1011\/1756288\/jem_20151183.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/213\/6\/1011\/1756288\/jem_20151183.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T03:37:51Z","timestamp":1690342671000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jem\/article\/213\/6\/1011\/42081\/A-nonsense-mutation-in-the-DNA-repair-factor-Hebo"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,16]]},"references-count":55,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,5,30]]}},"URL":"https:\/\/doi.org\/10.1084\/jem.20151183","relation":{},"ISSN":["0022-1007","1540-9538"],"issn-type":[{"value":"0022-1007","type":"print"},{"value":"1540-9538","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,16]]}}}