{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:09:00Z","timestamp":1791353340612,"version":"4.3.1"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,11,22]],"date-time":"2013-11-22T00:00:00Z","timestamp":1385078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Proteins"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal\u2010Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. Using original new softwares, facilitating the delineation of the different domains of the protein and the identification of remote relationships for orphan domains, we outline here that the C\u2010terminal extension of RTEL1, downstream of its catalytic domain and including several HHS\u2010associated mutations, contains a yet unidentified tandem of harmonin\u2010N\u2010like domains, which may serve as a hub for partner interaction. This finding highlights the potential critical role of this region for the function of RTEL1 and gives insights into the impact that the identified mutations would have on the structure and function of these domains. Proteins 2014; 82:897\u2013903. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/prot.24438","type":"journal-article","created":{"date-parts":[[2013,10,15]],"date-time":"2013-10-15T16:47:25Z","timestamp":1381855645000},"page":"897-903","source":"Crossref","is-referenced-by-count":34,"title":["The C\u2010terminal extension of human RTEL1, mutated in Hoyeraal\u2010Hreidarsson syndrome, contains Harmonin\u2010N\u2010like domains"],"prefix":"10.1002","volume":"82","author":[{"given":"Guilhem","family":"Faure","sequence":"first","affiliation":[{"name":"CNRS UPMC University Paris 6 IMPMC, UMR7590\u2010IUC, F\u201075005 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Revy","sequence":"additional","affiliation":[{"name":"INSERM U768 Universit\u00e9 Paris Descartes Institut Imagine Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schertzer","sequence":"additional","affiliation":[{"name":"Telomeres and Cancer Laboratory (Lab\u00e9llis\u00e9 Ligue) Institut Curie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Londono\u2010Vallejo","sequence":"additional","affiliation":[{"name":"Telomeres and Cancer Laboratory (Lab\u00e9llis\u00e9 Ligue) Institut Curie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Callebaut","sequence":"additional","affiliation":[{"name":"CNRS UPMC University Paris 6 IMPMC, UMR7590\u2010IUC, F\u201075005 Paris 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