Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. (Q36185297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

1

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28 January 2020

Laura Silvestri

5

1 reference

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28 January 2020

author name string

Alessia Pagani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Giacomo Mandelli

3

1 reference

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28 January 2020

Maria Rosa Lidonnici

4

1 reference

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28 January 2020

Giuliana Ferrari

6

1 reference

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28 January 2020

Clara Camaschella

7

1 reference

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28 January 2020

language of work or name

English

0 references

publication date

6 April 2012

1 reference

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28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

119

1 reference

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28 January 2020

issue

21

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28 January 2020

page(s)

5021-5029

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β-thalassemia: a model for elucidating the dynamic regulation of ineffective erythropoiesis and iron metabolism

28 January 2020

cites work

1 reference

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

1 October 2017

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Optimal management of β thalassaemia intermedia.

1 October 2017

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Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice

1 October 2017

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Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis

1 October 2017

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Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways

1 October 2017

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Two to tango: regulation of Mammalian iron metabolism

1 October 2017

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Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis

1 October 2017

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1 October 2017

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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

1 October 2017

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Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

1 October 2017

1 reference

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Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

1 October 2017

1 reference

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Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies.

1 October 2017

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Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells

1 October 2017

1 reference

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

1 October 2017

1 reference

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

1 October 2017

1 reference

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Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

1 October 2017

1 reference

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The serine protease TMPRSS6 is required to sense iron deficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Liver iron concentrations and urinary hepcidin in beta-thalassemia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin

1 October 2017

1 reference

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Regulation of protein synthesis by the heme-regulated eIF2alpha kinase: relevance to anemias

1 October 2017

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Targeted disruption of the hepcidin 1 gene results in severe hemochromatosis

1 October 2017

1 reference

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Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload

1 October 2017

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Hepcidin in iron overload disorders

1 October 2017

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Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

1 October 2017

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1 October 2017

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 October 2017

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1 October 2017

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A mouse model for beta 0-thalassemia

1 October 2017

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Effect of blood donation on iron stores as evaluated by serum ferritin

1 October 2017

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TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals.

2 July 2018

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Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.

23 September 2018

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Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.

23 September 2018

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

23 September 2018

1 reference

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Transferrin therapy ameliorates disease in beta-thalassemic mice.

23 September 2018

1 reference

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

23 September 2018

1 reference

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia.

23 September 2018

1 reference

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Different expression pattern of hepcidin genes in the liver and pancreas of C57BL/6N and DBA/2N mice.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

Strain and gender modulate hepatic hepcidin 1 and 2 mRNA expression in mice.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426375

mRNA expression of iron regulatory genes in β-thalassemia intermedia and β-thalassemia major mouse models

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22490684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22490684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Decreased hepcidin mRNA expression in thalassemic mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22490684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2012-01-401885

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22490684%20AND%20SRC:MED&resulttype=core&format=json