Literature DB >> 18408718

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

Karin E Finberg1, Matthew M Heeney, Dean R Campagna, Yeşim Aydinok, Howard A Pearson, Kip R Hartman, Mary M Mayo, Stewart M Samuel, John J Strouse, Kyriacos Markianos, Nancy C Andrews, Mark D Fleming.   

Abstract

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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Year:  2008        PMID： 18408718      PMCID： PMC3104019          DOI： 10.1038/ng.130

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  9 in total

1.  Iron deficiency anemia due to a defect in iron metabolism: a case report.

Authors:  M M Mayo; S M Samuel
Journal:  Clin Lab Sci       Date:  2001

2.  Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications.

Authors:  Erwin H J M Kemna; Harold Tjalsma; Vladimir N Podust; Dorine W Swinkels
Journal:  Clin Chem       Date:  2007-02-01       Impact factor: 8.327

3.  Heme metabolism and in vitro erythropoiesis in anemia associated with hypochromic microcytosis.

Authors:  A C Brown; J D Lutton; H A Pearson; J C Nelson; R D Levere; N G Abraham
Journal:  Am J Hematol       Date:  1988-01       Impact factor: 10.047

4.  Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption.

Authors:  H A Pearson; J N Lukens
Journal:  J Pediatr Hematol Oncol       Date:  1999 Sep-Oct       Impact factor: 1.289

Review 5.  Regulation of iron metabolism by hepcidin.

Authors:  Elizabeta Nemeth; Tomas Ganz
Journal:  Annu Rev Nutr       Date:  2006       Impact factor: 11.848

6.  Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins.

Authors:  Gloria Velasco; Santiago Cal; Victor Quesada; Luis M Sánchez; Carlos López-Otín
Journal:  J Biol Chem       Date:  2002-07-30       Impact factor: 5.157

7.  Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism.

Authors:  K R Hartman; J A Barker
Journal:  Am J Hematol       Date:  1996-04       Impact factor: 10.047

8.  Malabsorption and defective utilization of iron in three siblings.

Authors:  G R Buchanan; R G Sheehan
Journal:  J Pediatr       Date:  1981-05       Impact factor: 4.406

9.  Iron deficiency: lessons from anemic mice.

Authors:  N C Andrews
Journal:  Yale J Biol Med       Date:  1997 May-Jun
  9 in total
  232 in total

Review 1.  The hepcidin-ferroportin system as a therapeutic target in anemias and iron overload disorders.

Authors:  Tomas Ganz; Elizabeta Nemeth
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2011

Review 2.  Iron homeostasis and the inflammatory response.

Authors:  Marianne Wessling-Resnick
Journal:  Annu Rev Nutr       Date:  2010-08-21       Impact factor: 11.848

3.  Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

Authors:  Irene Pichler; Cosetta Minelli; Serena Sanna; Toshiko Tanaka; Christine Schwienbacher; Silvia Naitza; Eleonora Porcu; Cristian Pattaro; Fabio Busonero; Alessandra Zanon; Andrea Maschio; Scott A Melville; Maria Grazia Piras; Dan L Longo; Jack Guralnik; Dena Hernandez; Stefania Bandinelli; Elmar Aigner; Anthony T Murphy; Victor Wroblewski; Fabio Marroni; Igor Theurl; Carsten Gnewuch; Eric Schadt; Manfred Mitterer; David Schlessinger; Luigi Ferrucci; Derrick R Witcher; Andrew A Hicks; Günter Weiss; Manuela Uda; Peter P Pramstaller
Journal:  Hum Mol Genet       Date:  2010-12-28       Impact factor: 6.150

Review 4.  Hepcidin and iron homeostasis.

Authors:  Tomas Ganz; Elizabeta Nemeth
Journal:  Biochim Biophys Acta       Date:  2012-01-26

Review 5.  Anemia, ineffective erythropoiesis, and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in β-thalassemia.

Authors:  Sara Gardenghi; Robert W Grady; Stefano Rivella
Journal:  Hematol Oncol Clin North Am       Date:  2010-10-15       Impact factor: 3.722

Review 6.  The cutting edge: membrane-anchored serine protease activities in the pericellular microenvironment.

Authors:  Toni M Antalis; Marguerite S Buzza; Kathryn M Hodge; John D Hooper; Sarah Netzel-Arnett
Journal:  Biochem J       Date:  2010-06-15       Impact factor: 3.857

Review 7.  Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches.

Authors:  Paul J Schmidt; Mark D Fleming
Journal:  Hematol Oncol Clin North Am       Date:  2014-01-18       Impact factor: 3.722

8.  The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.

Authors:  Silvia Colucci; Alessia Pagani; Mariateresa Pettinato; Irene Artuso; Antonella Nai; Clara Camaschella; Laura Silvestri
Journal:  Blood       Date:  2017-09-01       Impact factor: 22.113

Review 9.  The pathophysiology and pharmacology of hepcidin.

Authors:  Piotr Ruchala; Elizabeta Nemeth
Journal:  Trends Pharmacol Sci       Date:  2014-02-17       Impact factor: 14.819

Review 10.  Molecular mechanisms of normal iron homeostasis.

Authors:  An-Sheng Zhang; Caroline A Enns
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2009
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