TMPRSS6 Antibody

1. TMPRSS6 polymorphisms are associated with increased many iron-related hematological parameters in Turkish patients but may not be risk factors for iron deficiency anemia PMID: 29928945
2. results suggest that mother and child have a novel variety of iron-refractory iron deficiency anemia as a result of two TMPRSS6 mutations PMID: 28460265
3. Isolated heterozygous mutations of TMPRSS6 are unlikely to cause IRIDA, but when combined with a mutation in ALK2, the heterozygosity for the inactive MT2(I212T) may leave enough membrane hemojuvelin to allow persistent hepcidin activation. PMID: 28476747
4. These findings suggest that the expression of matriptase-2 may be both a prognostic marker and a potential therapeutic target for this cancer. PMID: 26862950
5. In examining iron variant associations with glucose homeostasis, an iron-raising variant of TMPRSS6 was associated with lower HbA1c levels (P = 8.66 x 10-10). PMID: 28334935
6. Studies in colonic T84 cell monolayers revealed that barrier disruption by the colitis-associated Th2-type cytokines, IL-4 and IL-13, down-regulates matriptase as well as prostasin through phosphorylation of the transcriptional regulator STAT6 PMID: 28490634
7. TMPRSS6 gene sequencing in 20 cases with IRIDA phenotype revealed 9 potentially deleterious intronic and two benign exonic variations in 12/20 cases (60%). PMID: 28169443
8. Study suggests that deregulated pericellular matriptase activity in OSCC may transactivate PAR-2 on fibroblasts in the surrounding tissue and thus promote their recruitment to the perimeter of the tumor, contributing to a microenvironement that favors tumor growth of oral squamous cell carcinoma. PMID: 27615543
9. 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) PMID: 27120435
10. TMPRSS6 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
11. Matriptase-2 deficiency causes iron deficiency anemia during the early postnatal development, but not during fetal development in humans. PMID: 26802052
12. Iron refractory iron deficiency anemia is caused by mutations of TMPRSS6 which encodes matriptase-2, a serine protease expressed on cell membranes of hepatocytes which is involved in the hepcidin regulatory pathways by processing hemojuvelin protein. PMID: 26596411
13. Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia. PMID: 26405152
14. 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). PMID: 26385264
15. A novel splicing mutation of TMPRSS6 exon 9 (c.1113G>A) was found in an iron-refractory iron deficiency anemia patient and his father. PMID: 25873000
16. N-glycan branching regulates HAI-2 through different subcellular distribution and subsequently access to different target proteases PMID: 26171609
17. 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. PMID: 25809685
18. We confirm that TMPRSS6 mutations are spread along the gene and that mechanistically they fully or partially abrogate hepcidin inhibition. PMID: 25156943
19. Certain domains of matriptase-2 are important for trafficking to the cell surface and are required for cleavage of hemojuvelin. PMID: 25588876
20. TMPRSS6 polymorphisms could play a role in iron homeostasis and the response to oral iron supplementation. PMID: 25557470
21. genetic variation in TMPRSS6 is higher in celiac disease patients than in controls. PMID: 25567183
22. TMPRSS6 inhibition via decreased STAT5 phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin expression to regulate iron homeostasis and immunity. PMID: 24376517
23. report six patients from three unrelated families with mutations in the TMPRSS6 gene, with three of the four identified mutations being novel PMID: 24382527
24. Our study suggests homozygosity for TMPRSS6 rs855791 C genotype has a protective role against IDA in women at reproductive age, especially in those with menorrhagia. PMID: 24782651
25. these data provide new insights into the cell surface expression, zymogen activation, and ectodomain shedding of matriptase-2. PMID: 24867957
26. Correspondence You have free access to this content A novel tri-allelic mutation of TMPRSS6 in iron-refractory iron deficiency anaemia with response to glucocorticoid. PMID: 24661031
27. In a study of 545 Rwandan pre-school children, 34.4% had anemia (17.6% Iron Deficiency Anemia). The TMPRSS6 736(V) allele, known to reduce iron status and Hb levels, was no more common than other known causes of anemia. PMID: 24175968
28. Investigated and foung SNPs HFE rs1800562 and TMPRSS6 rs855791 are the main determinants of HFE and TMPRSS6 related variation in serum iron, ferritin, transferrin saturation, and total iron binding capacity. PMID: 23794717
29. The association of TMRRSS6 variants with breast cancer risk and survival. PMID: 23649491
30. Matriptase-2 could have a potential role in prostate and breast tumour suppression through its anti-angiogenic properties. PMID: 23238872
31. A736V TMPRSS6 genotype influences hepcidin levels, erythropoiesis, and anemia management in CHD patients. PMID: 23433094
32. data demonstrate that TMPRSS6 variations are very frequently associated with iron deficiency anaemia in patients suffering from polyendocrine autoimmune syndrome type III PMID: 23293981
33. The p.A736V TMPRSS6 polymorphism is likely a modifier of Hereditary hemochromatosis (HH) expression. PMID: 22885719
34. The p.Ala736Val TMPRSS6 variant influences secondary hepatic iron accumulation in patients with nonalcoholic fatty liver disease (NAFLD). PMID: 23144979
35. matriptase-2 protects against the development and progression of prostate cancer by regulating the motility and invasive capabilities of prostate cancer cells PMID: 22858929
36. Single nucleotide polymorphisms in TMPRSS6 gene is associated with iron overload. PMID: 22761678
37. TMPRSS6 missense mutant proteins are targeted to the plasma membrane. PMID: 22581667
38. 2 new TMPRSS6 variants associated, in the heterozygous form, with iron-refractory iron-deficiency anaemia (IRDA) in 2 unrelated families; data suggest although heterozygous TMPRSS6 mutations may not be able to induce a clear IRIDA phenotype, some may increase susceptibility to iron deficiency PMID: 22765023
39. sequenced exons and exon-intron boundaries of SLC11A2 and TMPRSS6 in all 6 family members with iron-refractory iron deficiency anaemia; cannot exclude or confirm a gene-gene interaction between SLC11A2 and TMPRSS6; gene sequencing did not reveal causative rare mutations PMID: 22509377
40. action of HIF-1alpha on TMPRSS6 promoter activity PMID: 22628316
41. TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and iron-deficiency anemia. PMID: 22323359
42. We observed no other significant relationship of TMPRSS6 K253E, A736V, or Y739Y with iron, erythrocyte, or pica phenotypes. PMID: 22265928
43. TMPRSS6 variants were significantly associated with plasma ferritin, hemoglobin, risk of iron overload, and type 2 diabetes in Chinese Hans. PMID: 22301935
44. A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia PMID: 21618415
45. HFE rs1800562 C282Y variant exerts a direct pleiotropic effect on the iron parameters, in part independent of hepcidin. PMID: 21785125
46. the importance of TMPRSS6 trafficking at the plasma membrane in the regulation of hepcidin expression, an event that is essential for iron homeostasis. PMID: 21724843
47. Modulation of TMPRSS6 expression could serve as a negative feedback inhibitor to avoid excessive hepcidin increases by iron to help maintain tight homeostatic balance of systemic iron levels. PMID: 21622652
48. Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis PMID: 20966077
49. Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family PMID: 20964721
50. in 16 subjects with iron-refractory iron deficiency anaemia (IRIDA), identified 27 polymorphisms in TMPRSS6 gene; 8 snps and 4 haplotypes were associated with iron-refractory anaemia PMID: 20738301

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HGNC: 16517

OMIM: 206200

KEGG: hsa:164656

STRING: 9606.ENSP00000334962

UniGene: Hs.370885