Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia (Q33636993)

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9 February 2020

title

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia (English)

1 reference

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9 February 2020

1 reference

iron deficiency anemia

1 reference

3

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9 February 2020

Jaroslav Truksa

6

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9 February 2020

author name string

E Beutler

1

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9 February 2020

C Van Geet

2

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9 February 2020

T Gelbart

4

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9 February 2020

K Crain

5

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9 February 2020

P L Lee

7

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9 February 2020

publication date

8 October 2009

1 reference

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Blood Cells, Molecules and Diseases

9 February 2020

published in

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volume

44

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9 February 2020

issue

1

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9 February 2020

page(s)

16-21

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The serine protease TMPRSS6 is required to sense iron deficiency

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Iron deficiency: lessons from anemic mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

The intestinal mucosa of children with iron deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818284

Iron deficiency anemia due to a defect in iron metabolism: a case report

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19818657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Malabsorption and defective utilization of iron in three siblings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19818657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BCMD.2009.09.001

1 reference

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9 February 2020

1 reference

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9 February 2020

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