{"id":"https://openalex.org/W4404396286","doi":"https://doi.org/10.1097/moh.0000000000000854","title":"Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding","display_name":"Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding","publication_year":2024,"publication_date":"2024-11-15","ids":{"openalex":"https://openalex.org/W4404396286","doi":"https://doi.org/10.1097/moh.0000000000000854","pmid":"https://pubmed.ncbi.nlm.nih.gov/39564659","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11781971"},"language":"en","primary_location":{"id":"doi:10.1097/moh.0000000000000854","doi":"https://doi.org/10.1097/moh.0000000000000854","is_oa":false,"landing_page_url":"https://doi.org/10.1097/moh.0000000000000854","pdf_url":null,"source":{"id":"https://openalex.org/S15004046","display_name":"Current Opinion in Hematology","issn_l":"1065-6251","issn":["1065-6251","1080-8213","1531-7048"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Opinion in Hematology","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11781971/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062098168","display_name":"Jun\u2010ichiro Kida","orcid":"https://orcid.org/0000-0002-9997-7262","observed_orcids":["https://orcid.org/0000-0002-9997-7262"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Junichiro Kida","raw_affiliation_strings":["Department of Cancer Biology, University of Cincinnati","Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cancer Biology, University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042201153","display_name":"Timothy M. Chlon","orcid":"https://orcid.org/0000-0002-0133-8949","observed_orcids":["https://orcid.org/0000-0002-0133-8949"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Timothy M. Chlon","raw_affiliation_strings":["Department of Cancer Biology, University of Cincinnati","Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA","Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cancer Biology, University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA","institution_ids":["https://openalex.org/I1285204247"]},{"raw_affiliation_string":"Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center","institution_ids":["https://openalex.org/I1285204247"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5042201153"],"corresponding_institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I63135867"],"apc_list":null,"apc_paid":null,"fwci":0.3172,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.32843652,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":98},"biblio":{"volume":"32","issue":"2","first_page":"67","last_page":"76"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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":0.0015999999595806003,"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/T12820","display_name":"Chromatin Remodeling and Cancer","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/ddx41","display_name":"DDX41","score":0.9089999794960022},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.8690000176429749},{"id":"https://openalex.org/keywords/myeloid-neoplasms","display_name":"myeloid neoplasms","score":0.9610000252723694},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.8539999723434448},{"id":"https://openalex.org/keywords/r-loop-resolution","display_name":"R-loop resolution","score":0.7689999938011169},{"id":"https://openalex.org/keywords/ribosome-biogenesis","display_name":"ribosome biogenesis","score":0.9240000247955322},{"id":"https://openalex.org/keywords/innate-immune-activation","display_name":"innate immune activation","score":0.875},{"id":"https://openalex.org/keywords/rna-metabolism","display_name":"RNA metabolism","score":0.9200000166893005},{"id":"https://openalex.org/keywords/hematopoiesis","display_name":"hematopoiesis","score":0.9200000166893005},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8339999914169312},{"id":"https://openalex.org/keywords/molecular-pathogenesis","display_name":"molecular pathogenesis","score":0.6539999842643738},{"id":"https://openalex.org/keywords/treatment-considerations","display_name":"treatment considerations","score":0.45100000500679016}],"concepts":[{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.6701644659042358},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.621372640132904},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.6122381091117859},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6054601073265076},{"id":"https://openalex.org/C2779282312","wikidata":"https://www.wikidata.org/wiki/Q1956561","display_name":"Myeloid","level":2,"score":0.6024081707000732},{"id":"https://openalex.org/C136449434","wikidata":"https://www.wikidata.org/wiki/Q428253","display_name":"Innate immune system","level":3,"score":0.5705096125602722},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.49601802229881287},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.48916128277778625},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4404029846191406},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4124522805213928},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4095604717731476},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.32559823989868164},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3237190842628479},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.270749032497406},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21449080109596252},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.10737255215644836}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009196","descriptor_name":"Myeloproliferative Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009196","descriptor_name":"Myeloproliferative Disorders","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019337","descriptor_name":"Hematologic Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053487","descriptor_name":"DEAD-box RNA Helicases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053487","descriptor_name":"DEAD-box RNA Helicases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1097/moh.0000000000000854","doi":"https://doi.org/10.1097/moh.0000000000000854","is_oa":false,"landing_page_url":"https://doi.org/10.1097/moh.0000000000000854","pdf_url":null,"source":{"id":"https://openalex.org/S15004046","display_name":"Current Opinion in Hematology","issn_l":"1065-6251","issn":["1065-6251","1080-8213","1531-7048"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Opinion in Hematology","raw_type":"journal-article"},{"id":"pmid:39564659","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39564659","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":"Current opinion in hematology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11781971","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11781971/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Curr Opin Hematol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:11781971","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11781971/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Curr Opin Hematol","raw_type":"Text"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.7599999904632568,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1010382361","display_name":"The Role of DDX41 in Inherited Myelodysplastic Syndromes","funder_award_id":"K01DK121733","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G8345157064","display_name":"Decoding the Paradox of DDX41-mutant MDS","funder_award_id":"R56HL169244","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000905465","display_name":"Advanced Mouse Models of DDX41-mutated Myelodysplastic Syndromes","funder_award_id":"R03DK140185","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":58,"referenced_works":["https://openalex.org/W1968811042","https://openalex.org/W2024562564","https://openalex.org/W2051978340","https://openalex.org/W2082646723","https://openalex.org/W2085192138","https://openalex.org/W2087516832","https://openalex.org/W2099489128","https://openalex.org/W2154139219","https://openalex.org/W2320609306","https://openalex.org/W2339658711","https://openalex.org/W2346453663","https://openalex.org/W2515397526","https://openalex.org/W2542390763","https://openalex.org/W2588342380","https://openalex.org/W2805344776","https://openalex.org/W2806665495","https://openalex.org/W2885816375","https://openalex.org/W2949683836","https://openalex.org/W3005588954","https://openalex.org/W3017198869","https://openalex.org/W3017327186","https://openalex.org/W3122501282","https://openalex.org/W3127391317","https://openalex.org/W3133455914","https://openalex.org/W3134981746","https://openalex.org/W3138658973","https://openalex.org/W3198429224","https://openalex.org/W3205631791","https://openalex.org/W3211795435","https://openalex.org/W3212829453","https://openalex.org/W4220891048","https://openalex.org/W4224259553","https://openalex.org/W4226015846","https://openalex.org/W4281398472","https://openalex.org/W4281740133","https://openalex.org/W4292436422","https://openalex.org/W4293005058","https://openalex.org/W4293366618","https://openalex.org/W4306149635","https://openalex.org/W4308057709","https://openalex.org/W4310506366","https://openalex.org/W4312095753","https://openalex.org/W4320480935","https://openalex.org/W4361282956","https://openalex.org/W4362736625","https://openalex.org/W4376131294","https://openalex.org/W4377011682","https://openalex.org/W4382135772","https://openalex.org/W4385334061","https://openalex.org/W4386424167","https://openalex.org/W4386757553","https://openalex.org/W4387900888","https://openalex.org/W4390973034","https://openalex.org/W4391161567","https://openalex.org/W4391897221","https://openalex.org/W4393055938","https://openalex.org/W4400076450","https://openalex.org/W4401471641"],"related_works":["https://openalex.org/W2618018693","https://openalex.org/W4392667924","https://openalex.org/W7160030765","https://openalex.org/W4283319893","https://openalex.org/W3211527299","https://openalex.org/W4313574719","https://openalex.org/W3097130141","https://openalex.org/W3096656062","https://openalex.org/W3183282185","https://openalex.org/W4375862804"],"abstract_inverted_index":{"PURPOSE":[0],"OF":[1],"REVIEW:":[2],"DDX41":[3,35,47,86,98,118],"mutations":[4,36],"are":[5,88,174],"the":[6,30,44,67,71,75,96,156,167,183,202],"most":[7],"common":[8],"cause":[9,37],"of":[10,46,70,74,95,108,143],"germline":[11,85],"predisposition":[12],"to":[13,43,181,192,199],"adult-onset":[14],"myeloid":[15],"neoplasms.":[16],"The":[17],"unique":[18,59],"mutational":[19],"landscape":[20],"and":[21,62,65,90,123,130,148,171,188,191,196],"clinical":[22,60],"features":[23,61],"indicate":[24],"a":[25,152,163],"distinct":[26],"molecular":[27,72,203],"pathogenesis,":[28],"but":[29],"precise":[31],"mechanism":[32],"by":[33],"which":[34,113],"disease":[38,111],"is":[39,102,119,177],"poorly":[40],"understood,":[41],"owing":[42],"multitude":[45],"functions.":[48],"In":[49],"this":[50],"review,":[51],"we":[52],"will":[53],"update":[54],"DDX41's":[55],"known":[56],"functions,":[57],"present":[58,103],"treatment":[63],"considerations,":[64],"summarize":[66],"current":[68],"understanding":[69],"pathogenesis":[73],"disease.":[76],"RECENT":[77],"FINDINGS:":[78],"Large":[79],"cohort":[80],"studies":[81],"have":[82,136],"revealed":[83],"that":[84,138],"variants":[87],"heterozygous":[89],"predominantly":[91],"loss-of-function.":[92],"Acquired":[93],"mutation":[94],"contralateral":[97],"allele,":[99],"typically":[100],"R525H,":[101],"in":[104,127,145,155],"more":[105],"than":[106],"half":[107],"patients":[109,184],"at":[110,185],"onset,":[112],"occurs":[114],"after":[115],"age":[116],"50.":[117],"essential":[120],"for":[121],"hematopoiesis":[122],"has":[124],"versatile":[125],"functions":[126],"RNA":[128],"metabolism":[129],"innate":[131,139],"immune":[132,140],"sensing.":[133],"Experimental":[134],"models":[135,198],"suggested":[137],"activation":[141],"downstream":[142],"defects":[144],"R-loop":[146],"resolution":[147],"ribosome":[149],"biogenesis":[150],"plays":[151],"key":[153],"role":[154],"pathogenesis.":[157,204],"SUMMARY:":[158],"While":[159],"intensive":[160],"investigations":[161],"unveiled":[162],"strong":[164],"genotype-phenotype":[165],"relationship,":[166],"optimal":[168],"therapeutic":[169],"approach":[170],"long-term":[172],"outcome":[173],"undefined.":[175],"There":[176],"an":[178],"urgent":[179],"need":[180],"scrutinize":[182],"single":[186],"cell":[187],"multiomics":[189],"level":[190],"advance":[193],"experimental":[194],"animal":[195],"human":[197],"fully":[200],"elucidate":[201]},"counts_by_year":[{"year":2026,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-11-15T00:00:00"}
