Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
Publication
, Journal Article
Finberg, KE; Heeney, MM; Campagna, DR; Aydinok, Y; Pearson, HA; Hartman, KR; Mayo, MM; Samuel, SM; Strouse, JJ; Markianos, K; Andrews, NC; Fleming, MD
Published in: Nature genetics
May 2008
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.
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Published In
Nature genetics
DOI
EISSN
1546-1718
ISSN
1061-4036
Publication Date
May 2008
Volume
40
Issue
5
Start / End Page
569 / 571
Related Subject Headings
- Serine Endopeptidases
- Protein Structure, Tertiary
- Membrane Proteins
- Male
- Iron
- Infant
- Humans
- Homeostasis
- Germ-Line Mutation
- Female
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MLA
NLM
Finberg, K. E., Heeney, M. M., Campagna, D. R., Aydinok, Y., Pearson, H. A., Hartman, K. R., … Fleming, M. D. (2008). Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics, 40(5), 569–571. https://doi.org/10.1038/ng.130
Finberg, Karin E., Matthew M. Heeney, Dean R. Campagna, Yeşim Aydinok, Howard A. Pearson, Kip R. Hartman, Mary M. Mayo, et al. “Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).” Nature Genetics 40, no. 5 (May 2008): 569–71. https://doi.org/10.1038/ng.130.
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, et al. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature genetics. 2008 May;40(5):569–71.
Finberg, Karin E., et al. “Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).” Nature Genetics, vol. 40, no. 5, May 2008, pp. 569–71. Epmc, doi:10.1038/ng.130.
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature genetics. 2008 May;40(5):569–571.
Published In
Nature genetics
DOI
EISSN
1546-1718
ISSN
1061-4036
Publication Date
May 2008
Volume
40
Issue
5
Start / End Page
569 / 571
Related Subject Headings
- Serine Endopeptidases
- Protein Structure, Tertiary
- Membrane Proteins
- Male
- Iron
- Infant
- Humans
- Homeostasis
- Germ-Line Mutation
- Female