(Q36862359)

16 August 2017

Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin (English)

1 reference

16 August 2017

James G Taylor

9

0 references

Gregory J. Kato

object named as

Gregory J Kato

8

0 references

author name string

Sergei Nekhai

1

1 reference

16 August 2017

Min Xu

2

1 reference

16 August 2017

Altreisha Foster

3

1 reference

16 August 2017

Ishmael Kasvosve

4

1 reference

16 August 2017

Sharmin Diaz

5

1 reference

16 August 2017

Roberto F Machado

6

1 reference

16 August 2017

Oswaldo L Castro

7

1 reference

16 August 2017

Victor R Gordeuk

10

1 reference

16 August 2017

12 October 2012

1 reference

16 August 2017

1 reference

16 August 2017

98

1 reference

16 August 2017

3

1 reference

16 August 2017

455-463

1 reference

Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Mortality in adults with sickle cell disease and pulmonary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Kaviar: an accessible system for testing SNV novelty

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Hepcidin induces HIV-1 transcription inhibited by ferroportin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

The molecular basis of hepcidin-resistant hereditary hemochromatosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

The molecular mechanism of hepcidin-mediated ferroportin down-regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Hemodynamic and functional assessment of patients with sickle cell disease and pulmonary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Diastolic dysfunction is an independent risk factor for death in patients with sickle cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Regulation of iron metabolism by hepcidin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Cerebrovascular disease associated with sickle cell pulmonary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Impaired iron transport activity of ferroportin 1 in hereditary iron overload

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Ferroportin (Q248H) mutations in African families with dietary iron overload

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Tumor necrosis factor-alpha-induced iron sequestration and oxidative stress in human endothelial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Urinary hepcidin in congenital chronic anemias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Presence of the iron exporter ferroportin at the plasma membrane of macrophages is enhanced by iron loading and down-regulated by hepcidin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Dysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Functional consequences of ferroportin 1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Copper-induced ferroportin-1 expression in J774 macrophages is associated with increased iron efflux

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Expression of the iron transporter ferroportin in synaptic vesicles and the blood-brain barrier

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Genotypic and phenotypic heterogeneity of African Americans with primary iron overload

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Cell-free hemoglobin limits nitric oxide bioavailability in sickle-cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Hemolysis in sickle cell disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Mild iron overload in an African American man with SLC40A1 D270V.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Renal disease in adult Nigerians with sickle cell anemia: a report of prevalence, clinical features and risk factors

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

A hemodynamic study of pulmonary hypertension in sickle cell disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Development of a novel immunoassay for the iron regulatory peptide hepcidin.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Iron overload in the Asian community.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

(Pre)analytical imprecision, between-subject variability, and daily variations in serum and urine hepcidin: implications for clinical studies.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Pulmonary hypertension in patients with sickle cell/beta thalassemia: incidence and correlation with serum N-terminal pro-brain natriuretic peptide concentrations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

N-terminal pro-brain natriuretic peptide levels and risk of death in sickle cell disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Genetic and clinical heterogeneity of ferroportin disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Glucose-induced regulation of novel iron transporters in vascular endothelial cell dysfunction.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Effect of ferroportin Q248H polymorphism on iron status in African children

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Pulmonary hypertension as a risk factor for death in patients with sickle cell disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Immunoassay for human serum hepcidin

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3659936

Erythroid marrow function in anemic patients

20 October 2018

1 reference

12 December 2020

Cardiopulmonary pathology in patients with sleep apnea/obesity hypoventilation syndrome

1 reference

12 December 2020

Autocrine formation of hepcidin induces iron retention in human monocytes

1 reference

12 December 2020

High-sensitive radioimmunoassay for human serum hepcidin

1 reference

12 December 2020

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

1 reference

12 December 2020

Pulmonary hypertension diagnosed by right heart catheterisation in sickle cell disease

1 reference

12 December 2020

10.3324/HAEMATOL.2012.066530

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23065513

1 reference