BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 20704562)

  • 1. A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
    Altamura S; D'Alessio F; Selle B; Muckenthaler MU
    Biochem J; 2010 Nov; 431(3):363-71. PubMed ID: 20704562
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 21618415
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
    De Falco L; Silvestri L; Kannengiesser C; Morán E; Oudin C; Rausa M; Bruno M; Aranda J; Argiles B; Yenicesu I; Falcon-Rodriguez M; Yilmaz-Keskin E; Kocak U; Beaumont C; Camaschella C; Iolascon A; Grandchamp B; Sanchez M
    Hum Mutat; 2014 Nov; 35(11):1321-9. PubMed ID: 25156943
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 20232450
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 18603562
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 18(19):3673-83. PubMed ID: 19592582
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 83(6):595-602. PubMed ID: 19708871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis.
    Lakhal S; Schödel J; Townsend AR; Pugh CW; Ratcliffe PJ; Mole DR
    J Biol Chem; 2011 Feb; 286(6):4090-7. PubMed ID: 20966077
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].
    Xiong Y; Yang W; Li Y; Peng G; Li Y; Fan H; Ye L; Song L; Zhao X; Li J; Jing L; Zhang L; Zhou K; Xu Y; Zhang F
    Zhonghua Xue Ye Xue Za Zhi; 2014 Jun; 35(6):486-90. PubMed ID: 24985168
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis.
    Finberg KE; Whittlesey RL; Fleming MD; Andrews NC
    Blood; 2010 May; 115(18):3817-26. PubMed ID: 20200349
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia.
    Sato T; Iyama S; Murase K; Kamihara Y; Ono K; Kikuchi S; Takada K; Miyanishi K; Sato Y; Takimoto R; Kobune M; Kato J
    Int J Hematol; 2011 Jul; 94(1):101-103. PubMed ID: 21643693
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.
    McDonald CJ; Ostini L; Bennett N; Subramaniam N; Hooper J; Velasco G; Wallace DF; Subramaniam VN
    Am J Physiol Cell Physiol; 2015 Apr; 308(7):C539-47. PubMed ID: 25588876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 22581667
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.
    Sal E; Keskin EY; Yenicesu I; Bruno M; De Falco L
    Pediatr Hematol Oncol; 2016 Apr; 33(3):226-32. PubMed ID: 27120435
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia.
    Kodama K; Noguchi A; Adachi H; Hebiguchi M; Yano M; Takahashi T
    Pediatr Int; 2014 Aug; 56(4):e41-4. PubMed ID: 25252070
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 118(3):747-56. PubMed ID: 21622652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Iron-refractory iron deficiency anemia.
    Finberg KE
    Semin Hematol; 2009 Oct; 46(4):378-86. PubMed ID: 19786206
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia.
    Al-Jamea LH; Woodman A; Heiba NM; Elshazly SA; Khalaf NB; Fathallah DM; Al-Nashmi ME; Quiambao JV; Deifalla AH
    Hematol Oncol Stem Cell Ther; 2021 Mar; 14(1):41-50. PubMed ID: 32446932
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Transferrin Saturation/Hepcidin Ratio Discriminates
    van der Staaij H; Donker AE; Bakkeren DL; Salemans JMJI; Mignot-Evers LAA; Bongers MY; Dieleman JP; Galesloot TE; Laarakkers CM; Klaver SM; Swinkels DW
    Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163840
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Essential role of endocytosis of the type II transmembrane serine protease TMPRSS6 in regulating its functionality.
    Béliveau F; Brulé C; Désilets A; Zimmerman B; Laporte SA; Lavoie CL; Leduc R
    J Biol Chem; 2011 Aug; 286(33):29035-29043. PubMed ID: 21724843
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.