Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
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Published in | Blood Vol. 132; no. 4; pp. 448 - 455 |
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Main Authors | , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
26.07.2018
American Society of Hematology |
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Author | Heeney, Matthew M. Markianos, Kyriacos Kao, Paige P.-C. Guo, Dongjing Gutschow, Patrick Westerman, Mark Fleming, Mark D. Olbina, Gordana Jackson, Tracy Iolascon, Achille London, Wendy B. Ostland, Vaughn Westerman, Keith Rahimov, Fedik Finberg, Karin E. Schmitz-Abe, Klaus Klaassen, Robert J. De Falco, Luigia Campagna, Dean R. |
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Author_xml | – sequence: 1 givenname: Matthew M. orcidid: 0000-0002-1104-6843 surname: Heeney fullname: Heeney, Matthew M. organization: Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA – sequence: 2 givenname: Dongjing surname: Guo fullname: Guo, Dongjing organization: Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA – sequence: 3 givenname: Luigia surname: De Falco fullname: De Falco, Luigia organization: Department of Molecular Medicine and Medical Biotechnologies, Federico II University Medical School, Naples, Italy – sequence: 4 givenname: Dean R. surname: Campagna fullname: Campagna, Dean R. organization: Department of Pathology, Boston Children's Hospital, Boston, MA – sequence: 5 givenname: Gordana surname: Olbina fullname: Olbina, Gordana organization: Intrinsic LifeSciences, La Jolla, CA – sequence: 6 givenname: Paige P.-C. surname: Kao fullname: Kao, Paige P.-C. organization: Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA – sequence: 7 givenname: Klaus surname: Schmitz-Abe fullname: Schmitz-Abe, Klaus organization: Division of Newborn Medicine, Boston, MA – sequence: 8 givenname: Fedik surname: Rahimov fullname: Rahimov, Fedik organization: Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA – sequence: 9 givenname: Patrick surname: Gutschow fullname: Gutschow, Patrick organization: Intrinsic LifeSciences, La Jolla, CA – sequence: 10 givenname: Keith surname: Westerman fullname: Westerman, Keith organization: Intrinsic LifeSciences, La Jolla, CA – sequence: 11 givenname: Vaughn surname: Ostland fullname: Ostland, Vaughn organization: Intrinsic LifeSciences, La Jolla, CA – sequence: 12 givenname: Tracy surname: Jackson fullname: Jackson, Tracy organization: Division of Pediatric Hematology-Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada – sequence: 13 givenname: Robert J. surname: Klaassen fullname: Klaassen, Robert J. organization: Division of Pediatric Hematology-Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada – sequence: 14 givenname: Kyriacos surname: Markianos fullname: Markianos, Kyriacos organization: Department of Pathology, Boston Children's Hospital, Boston, MA – sequence: 15 givenname: Karin E. surname: Finberg fullname: Finberg, Karin E. organization: Department of Pathology, Yale University, New Haven, CT – sequence: 16 givenname: Achille surname: Iolascon fullname: Iolascon, Achille organization: Department of Molecular Medicine and Medical Biotechnologies, Federico II University Medical School, Naples, Italy – sequence: 17 givenname: Mark surname: Westerman fullname: Westerman, Mark organization: Intrinsic LifeSciences, La Jolla, CA – sequence: 18 givenname: Wendy B. surname: London fullname: London, Wendy B. organization: Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA – sequence: 19 givenname: Mark D. orcidid: 0000-0003-0948-4024 surname: Fleming fullname: Fleming, Mark D. email: mark.fleming@childrens.harvard.edu organization: Department of Pathology, Boston Children's Hospital, Boston, MA |
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Cites_doi | 10.1126/science.1157121 10.1002/ajh.24561 10.1038/ng.130 10.1182/blood-2008-02-139915 10.1182/blood-2015-12-639112 |
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References | Finberg, Heeney, Campagna (bib1) 2008; 40 Donker, Schaap, Novotny (bib6) 2016; 91 De Falco, Silvestri, Kannengiesser (bib5) 2014; 35 Ganz, Olbina, Girelli, Nemeth, Westerman (bib3) 2008; 112 Girelli, Nemeth, Swinkels (bib4) 2016; 127 Du, She, Gelbart (bib2) 2008; 320 30237257 - Blood. 2018 Sep 20;132(12):1355. doi: 10.1182/blood-2018-08-867523 Donker (2019111813070955100_B6) 2016; 91 Du (2019111813070955100_B2) 2008; 320 Girelli (2019111813070955100_B4) 2016; 127 De Falco (2019111813070955100_B5) 2014; 35 Ganz (2019111813070955100_B3) 2008; 112 Finberg (2019111813070955100_B1) 2008; 40 |
References_xml | – volume: 35 start-page: 1321 year: 2014 end-page: 1329 ident: bib5 article-title: Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies publication-title: Hum Mutat contributor: fullname: Kannengiesser – volume: 112 start-page: 4292 year: 2008 end-page: 4297 ident: bib3 article-title: Immunoassay for human serum hepcidin publication-title: Blood contributor: fullname: Westerman – volume: 40 start-page: 569 year: 2008 end-page: 571 ident: bib1 article-title: Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) publication-title: Nat Genet contributor: fullname: Campagna – volume: 320 start-page: 1088 year: 2008 end-page: 1092 ident: bib2 article-title: The serine protease TMPRSS6 is required to sense iron deficiency publication-title: Science contributor: fullname: Gelbart – volume: 91 start-page: E482 year: 2016 end-page: E490 ident: bib6 article-title: Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory publication-title: Am J Hematol contributor: fullname: Novotny – volume: 127 start-page: 2809 year: 2016 end-page: 2813 ident: bib4 article-title: Hepcidin in the diagnosis of iron disorders publication-title: Blood contributor: fullname: Swinkels – volume: 320 start-page: 1088 issue: 5879 year: 2008 ident: 2019111813070955100_B2 article-title: The serine protease TMPRSS6 is required to sense iron deficiency publication-title: Science doi: 10.1126/science.1157121 contributor: fullname: Du – volume: 91 start-page: E482 issue: 12 year: 2016 ident: 2019111813070955100_B6 article-title: Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory publication-title: Am J Hematol doi: 10.1002/ajh.24561 contributor: fullname: Donker – volume: 40 start-page: 569 issue: 5 year: 2008 ident: 2019111813070955100_B1 article-title: Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) publication-title: Nat Genet doi: 10.1038/ng.130 contributor: fullname: Finberg – volume: 112 start-page: 4292 issue: 10 year: 2008 ident: 2019111813070955100_B3 article-title: Immunoassay for human serum hepcidin publication-title: Blood doi: 10.1182/blood-2008-02-139915 contributor: fullname: Ganz – volume: 35 start-page: 1321 issue: 11 year: 2014 ident: 2019111813070955100_B5 article-title: Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies publication-title: Hum Mutat contributor: fullname: De Falco – volume: 127 start-page: 2809 issue: 23 year: 2016 ident: 2019111813070955100_B4 article-title: Hepcidin in the diagnosis of iron disorders publication-title: Blood doi: 10.1182/blood-2015-12-639112 contributor: fullname: Girelli |
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SubjectTerms | Adult Anemia, Iron-Deficiency - blood Anemia, Iron-Deficiency - genetics Hepcidins - blood Humans Iron - blood Letter to Membrane Proteins - genetics Middle Aged Mutation Prognosis Serine Endopeptidases - genetics |
Title | Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency |
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