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All cases were either homozygous or compound heterozygous for missense or frameshift mutations in the TMPRSS6 gene, 2 of the mutations being novel (Cys410Ser and Leu689Pro)
TMPRSS6 expression is significantly downregulated in human masticatory mucosa during wound healing
Matriptase-2 deficiency causes iron deficiency anemia during the early postnatal development, but not during fetal development in humans.
Iron refractory iron deficiency anemia is caused by mutations of TMPRSS6 which encodes matriptase-2, a serine protease (show F2 ELISA Kits) expressed on cell membranes of hepatocytes which is involved in the hepcidin (show HAMP ELISA Kits) regulatory pathways by processing hemojuvelin (show HFE2 ELISA Kits) protein.
Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia.
Data show that p.V736A TMPRSS6 variant (rs855791) influences the susceptibility to hepatic iron accumulation in NTDT patients, and the risk allele is 736(A).
A novel splicing mutation of TMPRSS6 exon 9 (c.1113G>A) was found in an iron-refractory iron deficiency anemia patient and his father.
N-glycan branching regulates HAI-2 (show SPINT2 ELISA Kits) through different subcellular distribution and subsequently access to different target proteases
Data show that transmembrane serine protease (show F2 ELISA Kits) TMPRSS6 cleaves both the heterodimeric and the full-length mutant hemojuvelin (show HFE2 ELISA Kits) (m-HJV (show HFE2 ELISA Kits)).
genetic association studies in a population of black women in South Africa: Data suggest that SNPs in TMPRSS6 (rs228918; rs228921) are associated with iron status/iron-deficiency anemia in the population studied.
role of fetuin-A (show AHSG ELISA Kits) in iron homeostasis and provide new insights into the mechanism of how matriptase-2 might modulate hepcidin (show HAMP ELISA Kits) expression
TMPRSS6 inhibition via decreased STAT5 (show STAT5A ELISA Kits) phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin (show HAMP ELISA Kits) expression to regulate iron homeostasis and immunity.
matriptase-2 (encoded by Tmprss6)-is responsible for hepcidin (show HAMP ELISA Kits) repression throughout development, with its deficiency leading to increased hepcidin (show HAMP ELISA Kits) levels triggering iron deficiency and anemia starting in utero
The iron-regulatory serine protease (show F2 ELISA Kits) matriptase-2 is expressed in the retina, and absence of this enzyme leads to iron deficiency.
Loss of matriptase-2 increases bone morphogenetic protein-dependent signaling, while paradoxically decreasing liver hemojuvelin (show HFE2 ELISA Kits) protein content.
Results confirm the anti-inflammatory status of Tmprss6 KO mice and identify new potential target pathways/genes of Tmprss6.
Tmprss6 gene knockdown reduces iron overload in an animal model of hemochromatosis (show HFE ELISA Kits) and improves both iron overload and anemia in mice affected by beta-thalassemia.
Double mutant mice lacking functional Hfe (show HFE ELISA Kits) or Tfr2 (show TFR2 ELISA Kits) and Tmprss6 exhibited a severe iron deficiency microcytic anemia phenotype mimicking the phenotype of single mutant mice lacking functional Tmprss6 demonstrating that Hfe (show HFE ELISA Kits) and Tfr2 (show TFR2 ELISA Kits) are not substrates for Tmprss6.
Preventing iron overload improves beta-thalassemia and strengthens the essential role of Tmprss6 for Hamp (show HAMP ELISA Kits) suppression, providing a proof of concept that Tmprss6 manipulation can offer a novel therapeutic option in this condition.
The data do not provide support for the concept that matriptase-2 cleaves membrane hemojuvelin (show HFE2 ELISA Kits) and may indicate that, in vivo, the role of matriptase-2 in the regulation of hepcidin (show HAMP ELISA Kits) gene expression is more complex.
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver.
transmembrane protease serine 6
, transmembrane serine protease 6
, membrane-bound mosaic serine proteinase matriptase-2
, type II transmembrane serine protease 6
, matriptase 2
, transmembrane protease, serine 6