How to assess causality of TMPRSS6 mutations? - Wikidata - wikimedia - TriplyDB

How to assess causality of TMPRSS6 mutations?

How to assess causality of TMPRSS6 mutations?

http://www.wikidata.org/entity/Q46211888

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Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies Identification of TMPRSS6 cleavage sites of hemojuvelin Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines

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How to assess causality of TMPRSS6 mutations?

http://www.wikidata.org/entity/Q46211888

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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name

How to assess causality of TMPRSS6 mutations?

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How to assess causality of TMPRSS6 mutations?

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label

How to assess causality of TMPRSS6 mutations?

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How to assess causality of TMPRSS6 mutations?

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prefLabel

How to assess causality of TMPRSS6 mutations?

@en

How to assess causality of TMPRSS6 mutations?

@nl

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How to assess causality of TMPRSS6 mutations?

@en

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Alessia Pagani

http://www.w3.org/2001/XMLSchema#string

Antonella Nai

http://www.w3.org/2001/XMLSchema#string

Clara Camaschella

http://www.w3.org/2001/XMLSchema#string

Laura Silvestri

http://www.w3.org/2001/XMLSchema#string

Marco Rausa

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

The serine protease TMPRSS6 is required to sense iron deficiency

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

How I manage patients with atypical microcytic anaemia.

Huh-7: a human "hemochromatotic" cell line.

Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.

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

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

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1043-1045

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scholarly article

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10.1002/HUMU.22321

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7

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34

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2013-04-17T00:00:00Z

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236105101

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23554218

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