{"id":"https://openalex.org/W4224029655","doi":"https://doi.org/10.1182/blood.2021013750","title":"Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita","display_name":"Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita","publication_year":2022,"publication_date":"2022-04-14","ids":{"openalex":"https://openalex.org/W4224029655","doi":"https://doi.org/10.1182/blood.2021013750","pmid":"https://pubmed.ncbi.nlm.nih.gov/35421215","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9373014"},"language":"en","primary_location":{"id":"doi:10.1182/blood.2021013750","doi":"https://doi.org/10.1182/blood.2021013750","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.2021013750","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1182/blood.2021013750","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5040551690","display_name":"Seung-A Sara Choo","orcid":"https://orcid.org/0000-0002-1646-610X","observed_orcids":["https://orcid.org/0000-0002-1646-610X"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Seunga Choo","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":"https://orcid.org/0000-0002-1646-610X","affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016533341","display_name":"Franziska K. Lorbeer","orcid":"https://orcid.org/0000-0002-3152-6852","observed_orcids":["https://orcid.org/0000-0002-3152-6852"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Franziska K. Lorbeer","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":"https://orcid.org/0000-0002-3152-6852","affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017368126","display_name":"Samuel G. Regalado","orcid":"https://orcid.org/0000-0002-7793-8924","observed_orcids":["https://orcid.org/0000-0002-7793-8924"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samuel G. Regalado","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101512064","display_name":"Sarah B. Short","orcid":"https://orcid.org/0000-0003-2319-6360","observed_orcids":["https://orcid.org/0000-0003-2319-6360"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah B. Short","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":"https://orcid.org/0000-0003-2319-6360","affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Shannon Wu","orcid":"https://orcid.org/0000-0002-0809-9143","observed_orcids":["https://orcid.org/0000-0002-0809-9143"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shannon Wu","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":"https://orcid.org/0000-0002-0809-9143","affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013253804","display_name":"Gabrielle Rieser","orcid":"https://orcid.org/0000-0001-6244-9370","observed_orcids":["https://orcid.org/0000-0001-6244-9370"]},"institutions":[{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gabrielle Rieser","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063549667","display_name":"Alison A. Bertuch","orcid":"https://orcid.org/0000-0003-1864-8502","observed_orcids":["https://orcid.org/0000-0003-1864-8502"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alison A. Bertuch","raw_affiliation_strings":["2Department of Pediatrics, Baylor College of Medicine, Houston, TX;","3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;"],"raw_orcid":"https://orcid.org/0000-0003-1864-8502","affiliations":[{"raw_affiliation_string":"2Department of Pediatrics, Baylor College of Medicine, Houston, TX;","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045835078","display_name":"Dirk F. Hockemeyer","orcid":"https://orcid.org/0000-0002-5598-5092","observed_orcids":["https://orcid.org/0000-0002-5598-5092"]},"institutions":[{"id":"https://openalex.org/I4210100286","display_name":"Chan Zuckerberg Biohub San Francisco","ror":"https://ror.org/00knt4f32","country_code":"US","type":"facility","lineage":["https://openalex.org/I180670191","https://openalex.org/I4210100286","https://openalex.org/I4210121800","https://openalex.org/I95457486","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I4210109258","display_name":"Innovative Genomics Institute","ror":"https://ror.org/01r4tcq81","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191","https://openalex.org/I4210109258","https://openalex.org/I95457486"]},{"id":"https://openalex.org/I95457486","display_name":"University of California, Berkeley","ror":"https://ror.org/01an7q238","country_code":"US","type":"education","lineage":["https://openalex.org/I95457486"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Dirk Hockemeyer","raw_affiliation_strings":["1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","4Chan Zuckerberg Biohub, San Francisco, CA; and","5Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA"],"raw_orcid":"https://orcid.org/0000-0002-5598-5092","affiliations":[{"raw_affiliation_string":"1Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA;","institution_ids":["https://openalex.org/I95457486"]},{"raw_affiliation_string":"4Chan Zuckerberg Biohub, San Francisco, CA; and","institution_ids":["https://openalex.org/I4210100286"]},{"raw_affiliation_string":"5Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA","institution_ids":["https://openalex.org/I4210109258","https://openalex.org/I95457486"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5045835078"],"corresponding_institution_ids":["https://openalex.org/I4210100286","https://openalex.org/I4210109258","https://openalex.org/I95457486"],"apc_list":{"value":2500,"currency":"USD","value_usd":2500},"apc_paid":{"value":2500,"currency":"USD","value_usd":2500},"fwci":1.9618,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.85635729,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"140","issue":"6","first_page":"608","last_page":"618"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10937","display_name":"Telomeres, Telomerase, and Senescence","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10937","display_name":"Telomeres, Telomerase, and Senescence","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10878","display_name":"CRISPR and Genetic Engineering","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tin2","display_name":"TIN2","score":0.9750000238418579},{"id":"https://openalex.org/keywords/dyskeratosis-congenita","display_name":"dyskeratosis congenita","score":0.9739999771118164},{"id":"https://openalex.org/keywords/telomere-shortening","display_name":"telomere shortening","score":0.9620000123977661},{"id":"https://openalex.org/keywords/shelterin","display_name":"shelterin","score":0.6790000200271606},{"id":"https://openalex.org/keywords/genome-editing","display_name":"genome editing","score":0.7580000162124634},{"id":"https://openalex.org/keywords/human-embryonic-stem-cells","display_name":"human embryonic stem cells","score":0.8970000147819519},{"id":"https://openalex.org/keywords/hematopoietic-stem-and-progenitor-cells","display_name":"hematopoietic stem and progenitor cells","score":0.9959999918937683},{"id":"https://openalex.org/keywords/bone-marrow-failure","display_name":"bone marrow failure","score":0.8870000243186951},{"id":"https://openalex.org/keywords/dna-damage-response","display_name":"DNA damage response","score":0.6420000195503235},{"id":"https://openalex.org/keywords/disease-modeling","display_name":"disease modeling","score":0.3799999952316284}],"concepts":[{"id":"https://openalex.org/C2779285011","wikidata":"https://www.wikidata.org/wiki/Q3709312","display_name":"Dyskeratosis congenita","level":4,"score":0.947514533996582},{"id":"https://openalex.org/C177336024","wikidata":"https://www.wikidata.org/wiki/Q14872779","display_name":"Telomere","level":3,"score":0.8894646167755127},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7503566741943359},{"id":"https://openalex.org/C94581717","wikidata":"https://www.wikidata.org/wiki/Q331839","display_name":"Telomerase","level":3,"score":0.6955757141113281},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.6767957806587219},{"id":"https://openalex.org/C202265312","wikidata":"https://www.wikidata.org/wiki/Q7697810","display_name":"Telomere-binding protein","level":5,"score":0.47802814841270447},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.47068148851394653},{"id":"https://openalex.org/C201750760","wikidata":"https://www.wikidata.org/wiki/Q1896218","display_name":"Progenitor cell","level":3,"score":0.45645591616630554},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4448433816432953},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.43039631843566895},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.35402166843414307},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3107703924179077},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14628866314888},{"id":"https://openalex.org/C94966510","wikidata":"https://www.wikidata.org/wiki/Q2252764","display_name":"DNA-binding protein","level":4,"score":0.0},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019098","descriptor_name":"Telomerase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019098","descriptor_name":"Telomerase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D034501","descriptor_name":"Telomere-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D034501","descriptor_name":"Telomere-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D059506","descriptor_name":"Telomere Shortening","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1182/blood.2021013750","doi":"https://doi.org/10.1182/blood.2021013750","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.2021013750","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9373014","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9373014","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"Text"},{"id":"pmid:35421215","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35421215","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1182/blood.2021013750","doi":"https://doi.org/10.1182/blood.2021013750","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.2021013750","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G64287817","display_name":"Telomerase function in human tumor and stem cell biology","funder_award_id":"R01CA196884","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000870568","display_name":"Molecular Genetics of the Telomere Biology Disorders","funder_award_id":"R01HL131744","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":52,"referenced_works":["https://openalex.org/W1611074332","https://openalex.org/W1975166737","https://openalex.org/W1977709885","https://openalex.org/W1985641439","https://openalex.org/W1991846469","https://openalex.org/W1994932701","https://openalex.org/W1996946708","https://openalex.org/W2012918968","https://openalex.org/W2016522113","https://openalex.org/W2018882391","https://openalex.org/W2028870177","https://openalex.org/W2029860584","https://openalex.org/W2033942199","https://openalex.org/W2037236933","https://openalex.org/W2045702252","https://openalex.org/W2050166933","https://openalex.org/W2054632884","https://openalex.org/W2063062036","https://openalex.org/W2064815984","https://openalex.org/W2081794370","https://openalex.org/W2089842428","https://openalex.org/W2096107753","https://openalex.org/W2100031402","https://openalex.org/W2107010359","https://openalex.org/W2107665433","https://openalex.org/W2116282320","https://openalex.org/W2122740168","https://openalex.org/W2134718821","https://openalex.org/W2160562062","https://openalex.org/W2162786541","https://openalex.org/W2167009086","https://openalex.org/W2170632126","https://openalex.org/W2260480416","https://openalex.org/W2398118418","https://openalex.org/W2423913232","https://openalex.org/W2605903025","https://openalex.org/W2766966419","https://openalex.org/W2802026635","https://openalex.org/W2914387348","https://openalex.org/W3000363829","https://openalex.org/W3017218125","https://openalex.org/W3035816855","https://openalex.org/W3045264700","https://openalex.org/W3084030873","https://openalex.org/W3108172094","https://openalex.org/W3133647387","https://openalex.org/W3153780832","https://openalex.org/W3158955458","https://openalex.org/W3192166245","https://openalex.org/W3211490121","https://openalex.org/W3213304801","https://openalex.org/W4244817354"],"related_works":["https://openalex.org/W3214030264","https://openalex.org/W2062287434","https://openalex.org/W2170632126","https://openalex.org/W2107010359","https://openalex.org/W7161580029","https://openalex.org/W2492528673","https://openalex.org/W1611074332","https://openalex.org/W7095139108","https://openalex.org/W2029860584","https://openalex.org/W2979822567"],"abstract_inverted_index":{"Mutations":[0],"in":[1,37,58,100,105,137,143,159,166,186,191,208,224],"the":[2,6,14,31,38,44,74,84,90,95,128,147,164,204,218],"TINF2":[3,130,181],"gene,":[4],"encoding":[5],"shelterin":[7],"protein":[8],"TIN2,":[9],"cause":[10],"telomere":[11,35,97,119,141,167,184],"shortening":[12,36,120],"and":[13,41,64,68,77,146,169,211],"inherited":[15],"bone":[16],"marrow":[17],"(BM)":[18],"failure":[19],"syndrome":[20],"dyskeratosis":[21],"congenita":[22],"(DC).":[23],"A":[24],"lack":[25],"of":[26,34,46,127,150,180,220],"suitable":[27],"model":[28],"systems":[29],"limits":[30],"mechanistic":[32],"understanding":[33],"stem":[39,61,67,144,209],"cells":[40,62,70,145,210],"thus":[42],"hinders":[43],"development":[45],"treatment":[47],"options":[48],"for":[49],"BM":[50],"failure.":[51],"Here,":[52],"we":[53,154,173],"endogenously":[54],"introduced":[55,155],"TIN2-DC":[56,156,205],"mutations":[57],"human":[59,65,160],"embryonic":[60],"(hESCs)":[63],"hematopoietic":[66],"progenitor":[69],"(HSPCs)":[71],"to":[72,162,216],"dissect":[73],"disease":[75,85,92,157,206],"mechanism":[76],"identify":[78],"a":[79,134,198,213],"gene-editing":[80],"strategy":[81],"that":[82,175,182,202],"rescued":[83],"phenotypes.":[86],"The":[87],"hESCs":[88,107,187],"with":[89],"T284R":[91],"mutation":[93,136],"exhibited":[94],"short":[96],"phenotype":[98,207],"observed":[99],"DC":[101],"patients.":[102],"Yet,":[103],"telomeres":[104,115],"mutant":[106,129],"did":[108],"not":[109],"trigger":[110],"DNA":[111],"damage":[112],"responses":[113],"at":[114,177],"or":[116],"show":[117],"exacerbated":[118],"when":[121],"differentiated":[122,151],"into":[123],"telomerase-negative":[124],"cells.":[125,152],"Disruption":[126],"allele":[131],"by":[132],"introducing":[133],"frameshift":[135],"exon":[138,178],"2":[139,179],"restored":[140,183],"length":[142,168,185],"replicative":[148],"potential":[149,221],"Similarly,":[153],"variants":[158],"HSPCs":[161],"assess":[163,217],"changes":[165],"proliferative":[170],"capacity.":[171],"Lastly,":[172],"showed":[174],"editing":[176],"could":[188],"be":[189],"generated":[190],"TINF2-DC":[192],"patient":[193],"HSPCs.":[194],"Our":[195],"study":[196],"demonstrates":[197],"simple":[199],"genetic":[200],"intervention":[201],"rescues":[203],"provides":[212],"versatile":[214],"platform":[215],"efficacy":[219],"therapeutic":[222],"approaches":[223],"vivo.":[225]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-04-19T00:00:00"}