{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:59:31Z","timestamp":1790269171632,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":365,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP12025"],"award-info":[{"award-number":["GGP12025"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP09044"],"award-info":[{"award-number":["GGP09044"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["ERARE-115 HMA-IRON"],"award-info":[{"award-number":["ERARE-115 HMA-IRON"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN-MIUR20128PNX83"],"award-info":[{"award-number":["PRIN-MIUR20128PNX83"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["SAF2012-40106"],"award-info":[{"award-number":["SAF2012-40106"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["RYC-2008-02352"],"award-info":[{"award-number":["RYC-2008-02352"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00c3\u00b3n Ramon Areces","award":["CIVP16A1857"],"award-info":[{"award-number":["CIVP16A1857"]}]},{"name":"Ricerca Finalizzata Ministero Sanit\u00c3\u00a0 Rome","award":["RF-2010-2312048"],"award-info":[{"award-number":["RF-2010-2312048"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1002\/humu.22632","type":"journal-article","created":{"date-parts":[[2014,8,25]],"date-time":"2014-08-25T20:30:16Z","timestamp":1408998616000},"page":"n\/a-n\/a","source":"Crossref","is-referenced-by-count":19,"title":["Functional and Clinical Impact of Novel<i>Tmprss6<\/i>Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies"],"prefix":"10.1155","author":[{"given":"Luigia","family":"De Falco","sequence":"first","affiliation":[{"name":"CEINGE; Biotecnologie Avanzate; Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Silvestri","sequence":"additional","affiliation":[{"name":"Vita-Salute University and San Raffaele Scientific Institute; Division of Genetic and Cell Biology; Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"AP-HP; Service de G\u00e9n\u00e9tique; H\u00f4pital Bichat; Paris France"},{"name":"Universit\u00e9 Paris Diderot; site Bichat; Paris France"},{"name":"INSERM UMRS 1149; Centre de Recherche sur l'Inflammation Paris Montmartre; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Mor\u00e1n","sequence":"additional","affiliation":[{"name":"Cancer and Iron Group; Institute of Predictive and Personalized Medicine of Cancer (IMPPC); Badalona Barcelona Spain"},{"name":"Josep Carreras Leukemia Research Institute (IJC); Badalona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Oudin","sequence":"additional","affiliation":[{"name":"AP-HP; Service de G\u00e9n\u00e9tique; H\u00f4pital Bichat; Paris France"},{"name":"Universit\u00e9 Paris Diderot; site Bichat; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Rausa","sequence":"additional","affiliation":[{"name":"Vita-Salute University and San Raffaele Scientific Institute; Division of Genetic and Cell Biology; Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariasole","family":"Bruno","sequence":"additional","affiliation":[{"name":"CEINGE; Biotecnologie Avanzate; Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Aranda","sequence":"additional","affiliation":[{"name":"Cancer and Iron Group; Institute of Predictive and Personalized Medicine of Cancer (IMPPC); Badalona Barcelona Spain"},{"name":"Josep Carreras Leukemia Research Institute (IJC); Badalona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bienvenida","family":"Argiles","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Department; Hospital de la Fe; Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Idil","family":"Yenicesu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology; Department of Pediatrics; Gazi University Faculty of Medicine; Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Falcon-Rodriguez","sequence":"additional","affiliation":[{"name":"Hematology Service; Hospital Universitario Materno-Infantil de Canarias; Las Palmas de Gran Canarias Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru","family":"Yilmaz-Keskin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology; Department of Pediatrics; Gazi University Faculty of Medicine; Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulker","family":"Kocak","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology; Department of Pediatrics; Gazi University Faculty of Medicine; Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Beaumont","sequence":"additional","affiliation":[{"name":"INSERM UMRS 1149; Centre de Recherche sur l'Inflammation Paris Montmartre; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Camaschella","sequence":"additional","affiliation":[{"name":"Vita-Salute University and San Raffaele Scientific Institute; Division of Genetic and Cell Biology; Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"CEINGE; Biotecnologie Avanzate; Naples Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies; University of Naples Federico II; Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Grandchamp","sequence":"additional","affiliation":[{"name":"AP-HP; Service de G\u00e9n\u00e9tique; H\u00f4pital Bichat; Paris France"},{"name":"Universit\u00e9 Paris Diderot; site Bichat; Paris France"},{"name":"INSERM UMRS 1149; Centre de Recherche sur l'Inflammation Paris Montmartre; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayka","family":"Sanchez","sequence":"additional","affiliation":[{"name":"INSERM UMRS 1149; Centre de Recherche sur l'Inflammation Paris Montmartre; Paris France"},{"name":"Josep Carreras Leukemia Research Institute (IJC); Badalona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"10.1002\/humu.22632-BIB0001|humu22632-cit-0001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22632-BIB0002|humu22632-cit-0002","doi-asserted-by":"crossref","unstructured":"Andropoulos DB 2012 Appendix B: pediatric normal laboratory values. In: Gregory GA, Andropoulos DB, editors. Gregory's pediatric anesthesia. Fifth edition. Oxford, UK: Wiley-Blackwell","DOI":"10.1002\/9781444345186.app2"},{"key":"10.1002\/humu.22632-BIB0003|humu22632-cit-0003","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/ajh.23354","article-title":"Hepcidin levels predict nonresponsiveness to oral iron therapy in patients with iron deficiency anemia","volume":"88","author":"Bregman","year":"2013","journal-title":"Am J Hematol"},{"key":"10.1002\/humu.22632-BIB0004|humu22632-cit-0004","doi-asserted-by":"crossref","first-page":"286","DOI":"10.5045\/kjh.2012.47.4.286","article-title":"Serum hepcidin levels and iron parameters in children with iron deficiency","volume":"47","author":"Choi","year":"2012","journal-title":"Korean J Hematol"},{"key":"10.1002\/humu.22632-BIB0005|humu22632-cit-0005","doi-asserted-by":"crossref","first-page":"845","DOI":"10.3324\/haematol.2012.075515","article-title":"Iron refractory iron deficiency anemia","volume":"98","author":"De Falco","year":"2013","journal-title":"Haematologica"},{"key":"10.1002\/humu.22632-BIB0006|humu22632-cit-0006","doi-asserted-by":"crossref","first-page":"E1390","DOI":"10.1002\/humu.21243","article-title":"Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)","volume":"31","author":"De Falco","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22632-BIB0007|humu22632-cit-0007","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1126\/science.1157121","article-title":"The serine protease TMPRSS6 is required to sense iron deficiency","volume":"320","author":"Du","year":"2008","journal-title":"Science"},{"key":"10.1002\/humu.22632-BIB0008|humu22632-cit-0008","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1053\/j.seminhematol.2009.06.006","article-title":"Iron-refractory iron deficiency anemia","volume":"46","author":"Finberg","year":"2009","journal-title":"Semin Hematol"},{"key":"10.1002\/humu.22632-BIB0009|humu22632-cit-0009","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.130","article-title":"Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)","volume":"40","author":"Finberg","year":"2008","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22632-BIB0010|humu22632-cit-0010","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1182\/blood-2008-04-149773","article-title":"Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis","volume":"112","author":"Folgueras","year":"2008","journal-title":"Blood"},{"key":"10.1002\/humu.22632-BIB0011|humu22632-cit-0011","doi-asserted-by":"crossref","first-page":"4292","DOI":"10.1182\/blood-2008-02-139915","article-title":"Immunoassay for human serum hepcidin","volume":"112","author":"Ganz","year":"2008","journal-title":"Blood"},{"key":"10.1002\/humu.22632-BIB0012|humu22632-cit-0012","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1182\/blood-2008-05-154740","article-title":"Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency","volume":"112","author":"Guillem","year":"2008","journal-title":"Blood"},{"key":"10.1002\/humu.22632-BIB0013|humu22632-cit-0013","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/bjh.12147","article-title":"A novel mutation in the CUBsequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)","volume":"160","author":"Jaspers","year":"2013","journal-title":"Br J Haematol"},{"key":"10.1002\/humu.22632-BIB0014|humu22632-cit-0014","doi-asserted-by":"crossref","first-page":"e620","DOI":"10.1542\/peds.2012-1303","article-title":"Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy","volume":"131","author":"Khuong-Quang","year":"2013","journal-title":"Pediatrics"},{"key":"10.1002\/humu.22632-BIB0015|humu22632-cit-0015","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFTalgorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.22632-BIB0016|humu22632-cit-0016","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-8-30","article-title":"Novel mutations in the ferritin-Liron-responsive element that only mildly impair IRPbinding cause hereditary hyperferritinaemia cataract syndrome","volume":"8","author":"Luscieti","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.22632-BIB0017|humu22632-cit-0017","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cmet.2008.06.009","article-title":"Fine tuning of hepcidin expression by positive and negative regulators","volume":"8","author":"Muckenthaler","year":"2008","journal-title":"Cell Metab"},{"key":"10.1002\/humu.22632-BIB0018|humu22632-cit-0018","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1542\/peds.80.2.251","article-title":"Red blood cell distribution width in pediatric microcytic anemias","volume":"80","author":"Novak","year":"1987","journal-title":"Pediatrics"},{"key":"10.1002\/humu.22632-BIB0019|humu22632-cit-0019","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.3324\/haematol.12508","article-title":"Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response","volume":"93","author":"Pagani","year":"2008","journal-title":"Haematologica"},{"key":"10.1002\/humu.22632-BIB0020|humu22632-cit-0020","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1182\/blood.V43.4.581.581","article-title":"Ferritin in serum: diagnosis of iron deficiency and iron overload in infants and children","volume":"43","author":"Siimes","year":"1974","journal-title":"Blood"},{"key":"10.1002\/humu.22632-BIB0021|humu22632-cit-0021","doi-asserted-by":"crossref","first-page":"5605","DOI":"10.1182\/blood-2008-12-195594","article-title":"Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia","volume":"113","author":"Silvestri","year":"2009","journal-title":"Blood"},{"key":"10.1002\/humu.22632-BIB0022|humu22632-cit-0022","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.cmet.2008.09.012","article-title":"The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin","volume":"8","author":"Silvestri","year":"2008","journal-title":"Cell Metab"},{"key":"10.1002\/humu.22632-BIB0023|humu22632-cit-0023","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.22321","article-title":"How to assess causality of TMPRSS6 mutations?","volume":"34","author":"Silvestri","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22632-BIB0024|humu22632-cit-0024","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1111\/j.1600-0609.2009.01340.x","article-title":"Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia","volume":"83","author":"Tchou","year":"2009","journal-title":"Eur J Haematol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22632","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:45Z","timestamp":1672332945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":24,"URL":"https:\/\/doi.org\/10.1002\/humu.22632","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2014,9]]}}}