(Q47999551)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

title

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

iron deficiency anemia

1 reference

Albertine E Donker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Charlotte C M Schaap

2

1 reference

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23 March 2020

Vera M J Novotny

3

1 reference

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23 March 2020

Roel Smeets

4

1 reference

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23 March 2020

Tessa M A Peters

5

1 reference

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23 March 2020

Bert L P van den Heuvel

6

1 reference

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23 March 2020

Martine F Raphael

7

1 reference

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23 March 2020

Anita W Rijneveld

8

1 reference

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23 March 2020

Inge M Appel

9

1 reference

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23 March 2020

Andre J Vlot

10

1 reference

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23 March 2020

A Birgitta Versluijs

11

1 reference

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23 March 2020

Michel van Gelder

12

1 reference

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23 March 2020

Bernd Granzen

13

1 reference

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23 March 2020

Mirian C H Janssen

14

1 reference

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23 March 2020

Alexander J M Rennings

15

1 reference

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23 March 2020

Frank L van de Veerdonk

16

1 reference

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23 March 2020

Paul P T Brons

17

1 reference

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23 March 2020

Dirk L Bakkeren

18

1 reference

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23 March 2020

Marten R Nijziel

19

1 reference

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23 March 2020

L Thom Vlasveld

20

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23 March 2020

Dorine W Swinkels

21

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23 March 2020

publication date

1 December 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

23 March 2020

published in

1 reference

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23 March 2020

volume

91

1 reference

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23 March 2020

page(s)

E482-E490

1 reference

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23 March 2020

issue

12

1 reference

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The serine protease TMPRSS6 is required to sense iron deficiency

23 March 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

21 January 2018

1 reference

Iron refractory iron deficiency anemia

21 January 2018

1 reference

Hepcidin in the diagnosis of iron disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The role of TMPRSS6/matriptase-2 in iron regulation and anemia

21 January 2018

1 reference

Seventy-five genetic loci influencing the human red blood cell

21 January 2018

1 reference

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

21 January 2018

1 reference

How I treat unexplained refractory iron deficiency anemia

21 January 2018

1 reference

So you know how to treat iron deficiency anemia

21 January 2018

1 reference

Improved mass spectrometry assay for plasma hepcidin: detection and characterization of a novel hepcidin isoform

21 January 2018

1 reference

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

21 January 2018

1 reference

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

The preparation of 59Fe-labelled transferrin for ferrokinetic studies

21 January 2018

1 reference

Plasma and red cell iron turnover in normal subjects and in patients having various hematopoietic disorders

21 January 2018

1 reference

Inherited variation in gene expression

21 January 2018

1 reference

Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression

21 January 2018

1 reference

Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.

21 January 2018

1 reference

Responsiveness to oral iron and ascorbic acid in a patient with IRIDA.

21 January 2018

1 reference

Rapid elevation of transferrin saturation and serum hepcidin concentration in hemodialysis patients after intravenous iron infusion

21 January 2018

1 reference

Non-HFE hepatic iron overload

21 January 2018

1 reference

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

21 January 2018

1 reference

Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia

21 January 2018

1 reference

Hepcidin and β-thalassemia major.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Host iron status and iron supplementation mediate susceptibility to erythrocytic stage Plasmodium falciparum

21 January 2018

1 reference

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

Predicting functional effect of human missense mutations using PolyPhen-2.

21 January 2018

1 reference

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

21 January 2018

1 reference

Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

21 January 2018

1 reference

Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

21 January 2018

1 reference

12 December 2020

Mucosal Uptake, Mucosal Transfer and Retention of Iron, Measured by Whole-Body Counting

1 reference

12 December 2020

Malabsorption of iron in children with iron deficiency

1 reference

12 December 2020

Detecting copy number changes in genomic DNA: MAPH and MLPA

1 reference

12 December 2020

Iron deficiency anaemia due to a matriptase-2 mutation

1 reference

12 December 2020

Immunochemical and mass-spectrometry-based serum hepcidin assays for iron metabolism disorders

1 reference

12 December 2020

Establishment of a simple test for iron absorption from the gastrointestinal tract

1 reference

12 December 2020

Is the acronym IRIDA acceptable for slow responders to iron in the presence of TMPRSS6 mutations?

1 reference

12 December 2020

Serum hepcidin measured by immunochemical and mass-spectrometric methods and their correlation with iron status indicators in healthy children aged 0.5–3 y

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepcidin in chronic kidney disease: not an anaemia management tool, but promising as a cardiovascular biomarker

1 reference

12 December 2020

Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJH.24561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27643674%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference