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A new form of IRIDA due to combined heterozygous mutations of and encoding the BMP receptor ALK2.
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2
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.
Pediatr Blood Cancer. 2012 Apr;58(4):640-2. doi: 10.1002/pbc.23190. Epub 2011 May 25.
3
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
Biochem J. 2010 Nov 1;431(3):363-71. doi: 10.1042/BJ20100668.
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Iron-refractory iron deficiency anemia.
Semin Hematol. 2009 Oct;46(4):378-86. doi: 10.1053/j.seminhematol.2009.06.006.
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Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.
Pediatr Hematol Oncol. 2016 Apr;33(3):226-32. doi: 10.3109/08880018.2016.1157229. Epub 2016 Apr 27.
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Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).
Hum Mutat. 2010 May;31(5):E1390-405. doi: 10.1002/humu.21243.
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[Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].
Zhonghua Xue Ye Xue Za Zhi. 2014 Jun;35(6):486-90. doi: 10.3760/cma.j.issn.0253-2727.2014.06.002.
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Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mice.
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Iron Deficiency Anemia.
Adv Exp Med Biol. 2025;1480:163-178. doi: 10.1007/978-3-031-92033-2_12.
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How Activin A Became a Therapeutic Target in Fibrodysplasia Ossificans Progressiva.
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The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.
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Regulation of Iron Homeostasis and Related Diseases.
Mediators Inflamm. 2020 May 2;2020:6062094. doi: 10.1155/2020/6062094. eCollection 2020.
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Hepcidin and Anemia: A Tight Relationship.
Front Physiol. 2019 Oct 9;10:1294. doi: 10.3389/fphys.2019.01294. eCollection 2019.
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Bone morphogenetic protein receptor signal transduction in human disease.
J Pathol. 2019 Jan;247(1):9-20. doi: 10.1002/path.5170. Epub 2018 Nov 27.
8
ALK3 undergoes ligand-independent homodimerization and BMP-induced heterodimerization with ALK2.
Free Radic Biol Med. 2018 Dec;129:127-137. doi: 10.1016/j.freeradbiomed.2018.09.021. Epub 2018 Sep 15.
9
Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway.
J Biol Chem. 2017 Nov 3;292(44):18354-18371. doi: 10.1074/jbc.M117.801795. Epub 2017 Sep 18.
10
The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.
Blood. 2017 Nov 9;130(19):2111-2120. doi: 10.1182/blood-2017-04-780692. Epub 2017 Sep 1.

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Angiocrine Bmp2 signaling in murine liver controls normal iron homeostasis.
Blood. 2017 Jan 26;129(4):415-419. doi: 10.1182/blood-2016-07-729822. Epub 2016 Nov 30.
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Two tissue-resident progenitor lineages drive distinct phenotypes of heterotopic ossification.
Sci Transl Med. 2016 Nov 23;8(366):366ra163. doi: 10.1126/scitranslmed.aaf1090.
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Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice.
Blood. 2017 Jan 26;129(4):405-414. doi: 10.1182/blood-2016-06-721571. Epub 2016 Nov 18.
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Granting immunity to FOP and catching heterotopic ossification in the Act.
Semin Cell Dev Biol. 2016 Jan;49:30-6. doi: 10.1016/j.semcdb.2015.12.013. Epub 2015 Dec 17.
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Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.
Proc Natl Acad Sci U S A. 2015 Dec 15;112(50):15438-43. doi: 10.1073/pnas.1510540112. Epub 2015 Nov 30.
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ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
Sci Transl Med. 2015 Sep 2;7(303):303ra137. doi: 10.1126/scitranslmed.aac4358.
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Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.
Am J Physiol Cell Physiol. 2015 Apr 1;308(7):C539-47. doi: 10.1152/ajpcell.00264.2014. Epub 2015 Jan 14.
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Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice.
Blood. 2011 Oct 13;118(15):4224-30. doi: 10.1182/blood-2011-03-339952. Epub 2011 Aug 12.
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Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.
J Biol Chem. 2010 Jul 16;285(29):22542-53. doi: 10.1074/jbc.M109.094557. Epub 2010 May 12.

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