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Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
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57
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2008 |
2 |
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.
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57
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Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
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Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.
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The ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice.
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LJ000328, a novel ALK2/3 kinase inhibitor, represses hepcidin and significantly improves the phenotype of IRIDA.
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Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia.
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Pentosan polysulfate to control hepcidin expression in vitro and in vivo.
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Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia.
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Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
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[Iron metabolism and iron-refractory iron deficiency anemia].
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A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.
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One-pot syntheses of irida-polycyclic aromatic hydrocarbons.
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28 |
New diagnostic tools for delineating iron status.
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Ginzburg YZ
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Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene.
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Molecular perspective of iron uptake, related diseases, and treatments.
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Favourable improvement in haematological parameters in response to oral iron and vitamin C combination in children with Iron Refractory Iron Deficiency Anemia (IRIDA) phenotype.
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Hepcidin and Anemia: A Tight Relationship.
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Regulators of hepcidin expression.
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Liver iron sensing and body iron homeostasis.
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Hepcidin and the BMP-SMAD pathway: An unexpected liaison.
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Hepcidin Therapeutics.
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37 |
Liver HFE protein content is posttranscriptionally decreased in iron-deficient mice and rats.
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38 |
Metallaaromatic biaryl atropisomers.
61
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39 |
Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines.
61
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2018 |
40 |
Rare anemias due to genetic iron metabolism defects.
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41 |
[Iron-refractory iron deficiency anemia in a child].
61
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[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
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43 |
Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia.
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44 |
The interaction of iron and the genome: For better and for worse.
61
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29173496 |
2017 |
45 |
A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.
61
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Capra AP...Zirilli G
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2017 |
46 |
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child.
61
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Yaish HM...Phillips JD
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2017 |
47 |
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.
61
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Pagani A...Camaschella C
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28476747 |
2017 |
48 |
Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multiple TMPRSS6 gene variations.
61
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Bhatia P...Bansal D
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28169443 |
2017 |
49 |
Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia.
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28491880 |
2017 |
50 |
Regulation of the Iron Homeostatic Hormone Hepcidin.
61
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28096133 |
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