Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies (Q24302484)

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13 March 2020

title

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies (English)

1 reference

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Hemojuvelin BMP co-receptor

13 March 2020

main subject

1 reference

Transmembrane serine protease 6

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

self proteolysis

1 reference

GOA release 2020-03-11

author

Laura Silvestri

2

1 reference

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13 March 2020

Luigia De Falco

1

1 reference

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13 March 2020

Mariasole Bruno

7

1 reference

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13 March 2020

Mayka Sánchez

18

1 reference

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13 March 2020

author name string

Erica Morán

4

1 reference

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13 March 2020

Claire Oudin

5

1 reference

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13 March 2020

Marco Rausa

6

1 reference

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13 March 2020

Jessica Aranda

8

1 reference

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13 March 2020

Bienvenida Argiles

9

1 reference

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13 March 2020

Idil Yenicesu

10

1 reference

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13 March 2020

Maria Falcon-Rodriguez

11

1 reference

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13 March 2020

Ebru Yilmaz-Keskin

12

1 reference

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13 March 2020

Ulker Kocak

13

1 reference

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13 March 2020

Carole Beaumont

14

1 reference

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13 March 2020

Achille Iolascon

16

1 reference

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13 March 2020

Bernard Grandchamp

17

1 reference

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13 March 2020

Caroline Kannengiesser

3

1 reference

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13 March 2020

Clara Camaschella

15

1 reference

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13 March 2020

language of work or name

English

0 references

publication date

10 September 2014

1 reference

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13 March 2020

1 reference

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13 March 2020

volume

35

1 reference

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13 March 2020

page(s)

1321-1329

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13 March 2020

issue

11

1 reference

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A method and server for predicting damaging missense mutations

13 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Hepcidin levels predict nonresponsiveness to oral iron therapy in patients with iron deficiency anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Serum hepcidin levels and iron parameters in children with iron deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Iron refractory iron deficiency anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

The serine protease TMPRSS6 is required to sense iron deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Iron-refractory iron deficiency anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Immunoassay for human serum hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Fine tuning of hepcidin expression by positive and negative regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

How to assess causality of TMPRSS6 mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22632