(Q60163251)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

review article

1 reference

title

Non-HFE hemochromatosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

author

Antonello Pietrangelo

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

language of work or name

English

0 references

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

page(s)

21-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

17 November 2019

cites work

1 reference

7 January 2021

Heterogeneity of hemochromatosis in Italy

1 reference

7 January 2021

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

1 reference

7 January 2021

Hemochromatosis 1998: is one gene enough?

1 reference

7 January 2021

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1 reference

7 January 2021

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

1 reference

7 January 2021

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload

1 reference

7 January 2021

Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

7 January 2021

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

7 January 2021

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)

1 reference

7 January 2021

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

1 reference

7 January 2021

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

1 reference

7 January 2021

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

1 reference

7 January 2021

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

1 reference

7 January 2021

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

1 reference

7 January 2021

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

1 reference

7 January 2021

A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation

1 reference

7 January 2021

A novel mammalian iron-regulated protein involved in intracellular iron metabolism

1 reference

7 January 2021

Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload

1 reference

7 January 2021

Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis

1 reference

7 January 2021

Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation

1 reference

7 January 2021

Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells

1 reference

7 January 2021

Iron increases expression of iron-export protein MTP1 in lung cells

1 reference

7 January 2021

Iron treatment downregulates DMT1 and IREG1 mRNA expression in Caco-2 cells

1 reference

7 January 2021

The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression

1 reference

7 January 2021

Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

1 reference

7 January 2021

A new syndrome of liver iron overload with normal transferrin saturation

1 reference

7 January 2021

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

1 reference

7 January 2021

Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family

1 reference

7 January 2021

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

1 reference

7 January 2021

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

1 reference

7 January 2021

AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis

1 reference

7 January 2021

Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells

1 reference

7 January 2021

Iron regulatory proteins in pathobiology.

1 reference

7 January 2021

Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo

1 reference

7 January 2021

Transferrin receptor 2: a new molecule in iron metabolism

1 reference

7 January 2021

Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE

1 reference

7 January 2021

Two saturable mechanisms of iron uptake from transferrin in human melanoma cells: the effect of transferrin concentration, chelators, and metabolic probes on transferrin and iron uptake

1 reference

7 January 2021

Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

1 reference

7 January 2021

Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis

1 reference

7 January 2021

Physiology of iron transport and the hemochromatosis gene.

1 reference

7 January 2021

Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells

1 reference

7 January 2021

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

1 reference

7 January 2021

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

7 January 2021

Juvenile hemochromatosis locus maps to chromosome 1q.

1 reference

7 January 2021

LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity

1 reference

7 January 2021

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

1 reference

7 January 2021

A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload

1 reference

7 January 2021

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

1 reference

7 January 2021

C/EBPalpha regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism

1 reference

7 January 2021

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

1 reference

7 January 2021

The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation

1 reference

7 January 2021

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

1 reference

7 January 2021

Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron

1 reference

7 January 2021

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

1 reference

7 January 2021

Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism

1 reference

7 January 2021

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada)

1 reference

7 January 2021

Natural history of juvenile haemochromatosis

1 reference

7 January 2021

Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene

1 reference

7 January 2021

Identifiers

DOI

10.1002/HEP.20007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14752817%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference