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Results: 1 to 20 of 126

Similar articles for PubMed (Select 22581667)

1.

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G.

Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30.

PMID:
22581667
2.

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sardà MP, Baiget M, Remacha A, Velasco G, López-Otín C.

Hum Mol Genet. 2009 Oct 1;18(19):3673-83. doi: 10.1093/hmg/ddp315. Epub 2009 Jul 10.

3.

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A.

Hum Mutat. 2010 May;31(5):E1390-405. doi: 10.1002/humu.21243.

PMID:
20232450
4.

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia.

Tchou I, Diepold M, Pilotto PA, Swinkels D, Neerman-Arbez M, Beris P.

Eur J Haematol. 2009 Dec 1;83(6):595-602. doi: 10.1111/j.1600-0609.2009.01340.x. Epub 2009 Aug 25.

PMID:
19708871
5.

A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.

Choi HS, Yang HR, Song SH, Seo JY, Lee KO, Kim HJ.

Pediatr Blood Cancer. 2012 Apr;58(4):640-2. doi: 10.1002/pbc.23190. Epub 2011 May 25. Erratum in: Pediatr Blood Cancer. 2012 Dec 15;59(7):1336.

PMID:
21618415
6.

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

Altamura S, D'Alessio F, Selle B, Muckenthaler MU.

Biochem J. 2010 Nov 1;431(3):363-71. doi: 10.1042/BJ20100668.

7.

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B.

Blood. 2009 May 28;113(22):5605-8. doi: 10.1182/blood-2008-12-195594. Epub 2009 Apr 8.

8.

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

Melis MA, Cau M, Congiu R, Sole G, Barella S, Cao A, Westerman M, Cazzola M, Galanello R.

Haematologica. 2008 Oct;93(10):1473-9. doi: 10.3324/haematol.13342. Epub 2008 Jul 4.

9.

The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.

Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C.

Cell Metab. 2008 Dec;8(6):502-11. doi: 10.1016/j.cmet.2008.09.012. Epub 2008 Oct 30.

10.

[Iron deficiency anaemia due to a matriptase-2 mutation].

Cuijpers ML, Wiegerinck ET, Brouwer R, de Witte TJ, Swinkels DW.

Ned Tijdschr Geneeskd. 2010;154:A1038. Dutch.

PMID:
20719010
11.

Liver hemojuvelin protein levels in mice deficient in matriptase-2 (Tmprss6).

Krijt J, Fujikura Y, Ramsay AJ, Velasco G, Nečas E.

Blood Cells Mol Dis. 2011 Aug 15;47(2):133-7. doi: 10.1016/j.bcmd.2011.04.009. Epub 2011 May 25.

PMID:
21612955
12.

Iron-refractory iron deficiency anemia.

Finberg KE.

Semin Hematol. 2009 Oct;46(4):378-86. doi: 10.1053/j.seminhematol.2009.06.006. Review.

PMID:
19786206
13.

Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis.

Ramsay AJ, Hooper JD, Folgueras AR, Velasco G, López-Otín C.

Haematologica. 2009 Jun;94(6):840-9. doi: 10.3324/haematol.2008.001867. Epub 2009 Apr 18. Review.

14.

Proteolytic processing of the serine protease matriptase-2: identification of the cleavage sites required for its autocatalytic release from the cell surface.

Stirnberg M, Maurer E, Horstmeyer A, Kolp S, Frank S, Bald T, Arenz K, Janzer A, Prager K, Wunderlich P, Walter J, Gütschow M.

Biochem J. 2010 Aug 15;430(1):87-95. doi: 10.1042/BJ20091565.

15.

How to assess causality of TMPRSS6 mutations?

Silvestri L, Rausa M, Pagani A, Nai A, Camaschella C.

Hum Mutat. 2013 Jul;34(7):1043-5. doi: 10.1002/humu.22321. Epub 2013 Apr 17. No abstract available.

PMID:
23554218
16.

Role of matriptase-2 (TMPRSS6) in iron metabolism.

Lee P.

Acta Haematol. 2009;122(2-3):87-96. doi: 10.1159/000243792. Epub 2009 Nov 10. Review.

17.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Beutler E, Van Geet C, te Loo DM, Gelbart T, Crain K, Truksa J, Lee PL.

Blood Cells Mol Dis. 2010 Jan 15;44(1):16-21. doi: 10.1016/j.bcmd.2009.09.001. Epub 2009 Oct 8.

18.

Into the matrix: regulation of the iron regulatory hormone hepcidin by matriptase-2.

Knutson MD.

Nutr Rev. 2009 May;67(5):284-8. doi: 10.1111/j.1753-4887.2009.00200.x. Review.

PMID:
19386032
19.

Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.

Lenoir A, Deschemin JC, Kautz L, Ramsay AJ, Roth MP, Lopez-Otin C, Vaulont S, Nicolas G.

Blood. 2011 Jan 13;117(2):647-50. doi: 10.1182/blood-2010-07-295147. Epub 2010 Oct 12.

20.

Regulation of TMPRSS6 by BMP6 and iron in human cells and mice.

Meynard D, Vaja V, Sun CC, Corradini E, Chen S, López-Otín C, Grgurevic L, Hong CC, Stirnberg M, Gütschow M, Vukicevic S, Babitt JL, Lin HY.

Blood. 2011 Jul 21;118(3):747-56. doi: 10.1182/blood-2011-04-348698. Epub 2011 May 26.

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