{"id":"https://openalex.org/W2570901718","doi":"https://doi.org/10.1182/blood.v104.11.50.50","title":"Iron Metabolism in the Mice with Targeted Mutations of the DMT1 Gene .","display_name":"Iron Metabolism in the Mice with Targeted Mutations of the DMT1 Gene .","publication_year":2004,"publication_date":"2004-11-16","ids":{"openalex":"https://openalex.org/W2570901718","doi":"https://doi.org/10.1182/blood.v104.11.50.50","mag":"2570901718"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v104.11.50.50","doi":"https://doi.org/10.1182/blood.v104.11.50.50","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v104.11.50.50","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010825868","display_name":"Hiromi Gunshin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hiromi Gunshin","raw_affiliation_strings":["Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081156725","display_name":"Yuko Fujiwara","orcid":"https://orcid.org/0000-0003-3260-2957","observed_orcids":["https://orcid.org/0000-0003-3260-2957"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Yuko Fujiwara","raw_affiliation_strings":["Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029496352","display_name":"\u00c1ngel O. Custodio","orcid":"https://orcid.org/0000-0003-0916-2826","observed_orcids":["https://orcid.org/0000-0003-0916-2826"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Angel O. Custodio","raw_affiliation_strings":["Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021584561","display_name":"Cristina DiRenzo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Cristina DiRenzo","raw_affiliation_strings":["Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002123915","display_name":"Sylvie Robine","orcid":"https://orcid.org/0000-0002-8885-0389","observed_orcids":["https://orcid.org/0000-0002-8885-0389"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Sylvie Robine","raw_affiliation_strings":["Morphogenesis and intracellular signalling, Institut Curie-CNRS, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Morphogenesis and intracellular signalling, Institut Curie-CNRS, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I80043"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084835430","display_name":"Nancy C. Andrews","orcid":"https://orcid.org/0000-0003-0243-4462","observed_orcids":["https://orcid.org/0000-0003-0243-4462"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nancy C. Andrews","raw_affiliation_strings":["Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology/Oncology Division, Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5002123915","https://openalex.org/A5010825868","https://openalex.org/A5021584561","https://openalex.org/A5029496352","https://openalex.org/A5081156725"],"corresponding_institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I1294671590","https://openalex.org/I80043"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":0.4262,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.62439739,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"104","issue":"11","first_page":"50","last_page":"50"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"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/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"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/T10915","display_name":"Trace Elements in Health","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/divalent-metal-transporter-1","display_name":"DMT1","score":0.9430000185966492},{"id":"https://openalex.org/keywords/iron-metabolism","display_name":"iron metabolism","score":0.9879999756813049},{"id":"https://openalex.org/keywords/intestinal-iron-absorption","display_name":"intestinal iron absorption","score":0.9020000100135803},{"id":"https://openalex.org/keywords/anemia","display_name":"anemia","score":0.6790000200271606},{"id":"https://openalex.org/keywords/liver-iron-stores","display_name":"liver iron stores","score":0.6150000095367432},{"id":"https://openalex.org/keywords/hematopoietic-stem-cell-transplantation","display_name":"hematopoietic stem cell transplantation","score":0.8149999976158142},{"id":"https://openalex.org/keywords/fetal-liver-hematopoiesis","display_name":"fetal liver hematopoiesis","score":0.7360000014305115},{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.4909999966621399},{"id":"https://openalex.org/keywords/iron-distribution","display_name":"iron distribution","score":0.3149999976158142},{"id":"https://openalex.org/keywords/cre-loxp-conditional-knockout","display_name":"Cre-loxP conditional knockout","score":0.4519999921321869}],"concepts":[{"id":"https://openalex.org/C2776531687","wikidata":"https://www.wikidata.org/wiki/Q14914133","display_name":"DMT1","level":4,"score":0.969433605670929},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6689286231994629},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.5783965587615967},{"id":"https://openalex.org/C2779369046","wikidata":"https://www.wikidata.org/wiki/Q6072234","display_name":"Iron-binding proteins","level":3,"score":0.4642292857170105},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.43539881706237793},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43492811918258667},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.42313069105148315},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4121084213256836},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.41085392236709595},{"id":"https://openalex.org/C22814914","wikidata":"https://www.wikidata.org/wiki/Q410473","display_name":"Transferrin","level":2,"score":0.39994049072265625},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.3843984007835388},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3624800443649292},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.33811384439468384},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.25752124190330505},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22386434674263},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood.v104.11.50.50","doi":"https://doi.org/10.1182/blood.v104.11.50.50","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v104.11.50.50","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2588021305","https://openalex.org/W178707615","https://openalex.org/W7216626275","https://openalex.org/W7216846164","https://openalex.org/W2285933662","https://openalex.org/W2008110876","https://openalex.org/W2588470995","https://openalex.org/W33941356","https://openalex.org/W2051747959","https://openalex.org/W1984912112"],"abstract_inverted_index":{"Abstract":[0],"Divalent":[1],"metal":[2],"transporter":[3,41],"1":[4],"(DMT1)":[5],"was":[6,141,198,351],"shown":[7],"to":[8,83,95,106,212,277,345,366],"be":[9,78],"important":[10,183],"for":[11,161,184,337,357,440],"iron":[12,30,152,163,167,186,311,323,327,379,418,422,433,443],"metabolism":[13],"through":[14,49,455],"studies":[15],"of":[16,39,52,102,174,227,232,261,364,384,447,452],"the":[17,37,46,92,100,103,111,125,129,138,203,218,259,450],"mk/mk":[18,139,204,255,372,399],"mouse,":[19],"which":[20],"carries":[21],"a":[22,63,72,86,118,318,338],"spontaneous":[23],"mutation":[24,127,220,341,438],"(G185R)":[25],"resulting":[26],"in":[27,42,110,135,224,263,321,354,416],"defective":[28],"intestinal":[29,249,303,322,417],"absorption":[31,324,419],"and":[32,57,69,206,381,387,420],"anemia.":[33],"To":[34,257],"further":[35],"investigate":[36,258],"importance":[38,260],"this":[40,136,365],"vivo,":[43],"we":[44,123,266],"inactivated":[45,65,80],"DMT1":[47,66,74,108,157,181,233,250,262,412,453],"gene":[48],"targeted":[50],"deletion":[51],"transmembrane":[53],"domains":[54],"3,":[55],"4":[56],"5.":[58],"We":[59,90,132,361,408],"obtained":[60],"mice":[61,70,84,94,96,146,171,210,247,299,301,332,370,373,389,400],"carrying":[62,71],"universally":[64],"allele":[67,75],"(DMT1\u2212/\u2212)":[68],"floxed":[73,93],"that":[76,155,180,217,411,428],"could":[77],"selectively":[79],"by":[81,176],"breeding":[82],"expressing":[85,97],"Cre":[87,98],"recombinase":[88],"transgene.":[89],"crossed":[91],"under":[99],"control":[101],"Villin":[104],"promoter":[105],"inactivate":[107],"exclusively":[109],"intestine.":[112],"All":[113],"mutations":[114],"were":[115,147,251,290,390,401],"made":[116],"on":[117,374],"129S6/SvEvTac":[119],"background.":[120,131,377],"For":[121],"comparison,":[122],"backcrossed":[124],"mk":[126,219,437],"onto":[128],"same":[130],"noted":[133],"that,":[134],"context,":[137],"phenotype":[140,197],"much":[142,199],"less":[143,293,402],"severe.":[144],"DMT1\u2212/\u2212":[145,170,196,275,287,298,305,331,369,406],"born":[148],"with":[149,371],"substantial":[150],"liver":[151,269,310],"stores,":[153],"indicating":[154],"fetal":[156,268],"is":[158,182,426],"not":[159,189,222],"required":[160],"placental":[162],"transfer":[164],"or":[165,300],"hepatic":[166],"loading.":[168],"However,":[169],"invariably":[172],"died":[173,333],"anemia":[175,241],"day":[177],"7,":[178],"suggesting":[179,317],"erythroid":[185,421],"acquisition":[187,423],"but":[188,239,292,424],"absolutely":[190],"required.":[191],"Transfusions":[192],"improved":[193],"survival.":[194],"The":[195,349,436],"more":[200,252,309,352],"severe":[201],"than":[202,254,295,312,393,405],"phenotype,":[205],"compound":[207],"heterozygous":[208],"DMT1-/mk":[209],"survived":[211],"adulthood.":[213],"These":[214],"results":[215],"confirm":[216],"does":[221],"result":[223],"total":[225],"loss":[226],"protein":[228],"function.":[229],"Intestine-specific":[230],"inactivation":[231],"caused":[234],"no":[235],"abnormalities":[236],"at":[237],"birth,":[238],"progressive":[240],"developed":[242],"thereafter.":[243],"At":[244],"12":[245],"weeks,":[246],"lacking":[248,302],"anemic":[253],"mice.":[256,282,407],"hematopoietic":[264,270],"cells,":[265],"transferred":[267],"stem":[271],"cells":[272],"(HSC)":[273],"from":[274],"animals":[276,355],"irradiated":[278],"wild":[279,313],"type":[280,314],"adult":[281],"Twelve":[283],"weeks":[284],"after":[285],"transfer,":[286],"HSC":[288,306,315],"recipients":[289,307],"anemic,":[291],"so":[294],"singly":[296],"transfused":[297],"DMT1.":[304],"accumulated":[308],"recipients,":[316],"compensatory":[319],"increase":[320],"and/or":[325],"altered":[326],"distribution.":[328],"Surprisingly,":[329],"though":[330],"as":[334,396,457],"neonates,":[335],"heterozygosity":[336],"null":[339,359],"Hfe":[340,358,448],"allowed":[342],"some":[343],"DMT1\u2212/\u2212;Hfe+/\u2212animals":[344],"survive":[346],"without":[347],"transfusions.":[348],"effect":[350],"pronounced":[353],"homozygous":[356],"mutations.":[360],"took":[362],"advantage":[363],"compare":[367],"untransfused":[368],"an":[375,456],"Hfe\u2212/\u2212":[376],"Liver":[378],"content":[380],"hemoglobin":[382],"levels":[383],"both":[385],"mk/mk;Hfe\u2212/\u2212":[386],"DMT1\u2212/\u2212;Hfe\u2212/\u2212":[388],"significantly":[391],"lower":[392],"DMT1+/+;Hfe\u2212/\u2212":[394],"mice,":[395],"expected.":[397],"Again,":[398],"severely":[403],"affected":[404],"have":[409],"confirmed":[410],"plays":[413],"primary":[414],"roles":[415],"it":[425],"likely":[427],"there":[429],"are":[430],"minor,":[431],"alternative":[432],"uptake":[434],"mechanisms.":[435],"allows":[439],"considerable":[441],"residual":[442],"transport":[444],"activity.":[445],"Inactivation":[446],"ameliorates":[449],"effects":[451],"deficiency":[454],"yet":[458],"unknown":[459],"mechanism.":[460]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2017-01-13T00:00:00"}
