Molecular basis of hereditary iron homeostasis defects (Q37737808)

22 August 2017

1 reference

title

Molecular basis of hereditary iron homeostasis defects (English)

1 reference

22 August 2017

Monika Horvathova

1

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22 August 2017

Prem Ponka

series ordinal

2

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22 August 2017

Vladimir Divoky

series ordinal

3

1 reference

22 August 2017

publication date

1 April 2010

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22 August 2017

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22 August 2017

volume

15

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22 August 2017

issue

2

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22 August 2017

page(s)

96-111

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

22 August 2017

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New insights into erythropoiesis: the roles of folate, vitamin B12, and iron

21 January 2018

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Identification of an intestinal heme transporter

21 January 2018

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Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

21 January 2018

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Tin-mesoporphyrin inhibits heme oxygenase activity and heme-iron absorption in the intestine.

21 January 2018

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An iron-regulated ferric reductase associated with the absorption of dietary iron

21 January 2018

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Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice

21 January 2018

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Cloning and characterization of a mammalian proton-coupled metal-ion transporter

21 January 2018

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Ferric-salicylaldehyde isonicotinoyl hydrazone, a synthetic iron chelate, alleviates defective iron utilization by reticulocytes of the Belgrade rat.

21 January 2018

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Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver

21 January 2018

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The ferritins: molecular properties, iron storage function and cellular regulation

21 January 2018

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

21 January 2018

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Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

21 January 2018

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

21 January 2018

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The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis

21 January 2018

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Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

21 January 2018

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Transferrin receptor is necessary for development of erythrocytes and the nervous system

21 January 2018

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Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells

21 January 2018

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Mitoferrin is essential for erythroid iron assimilation

21 January 2018

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Biosynthesis of heme in mammals

21 January 2018

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Intracellular kinetics of iron in reticulocytes: evidence for endosome involvement in iron targeting to mitochondria

21 January 2018

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A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice

21 January 2018

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ABC transporters: the power to change

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Heme oxygenase 1 is required for mammalian iron reutilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Iron transporter Nramp2/DMT-1 is associated with the membrane of phagosomes in macrophages and Sertoli cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Nramp1 promotes efficient macrophage recycling of iron following erythrophagocytosis in vivo

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Regulation of iron acquisition and iron distribution in mammals

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Systemic iron homeostasis and the iron-responsive element/iron-regulatory protein (IRE/IRP) regulatory network

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Iron-dependent oxidation, ubiquitination, and degradation of iron regulatory protein 2: implications for degradation of oxidized proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

A regulated RNA binding protein also possesses aconitase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Involvement of heme regulatory motif in heme-mediated ubiquitination and degradation of IRP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Genetic ablations of iron regulatory proteins 1 and 2 reveal why iron regulatory protein 2 dominates iron homeostasis

21 January 2018

1 reference

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Complete loss of iron regulatory proteins 1 and 2 prevents viability of murine zygotes beyond the blastocyst stage of embryonic development

21 January 2018

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Iron regulatory proteins are essential for intestinal function and control key iron absorption molecules in the duodenum

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis

21 January 2018

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Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene

21 January 2018

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Biology of hypoxia-inducible factor-2alpha in development and disease

21 January 2018

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Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development

21 January 2018

1 reference

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HIF-2alpha, but not HIF-1alpha, promotes iron absorption in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hepcidin in iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

A human mitochondrial ferritin encoded by an intronless gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Mitochondrial ferritin expression in adult mouse tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Evidence for erythroid and nonerythroid forms of δ-aminolevulinate synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Remodeling the regulation of iron metabolism during erythroid differentiation to ensure efficient heme biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Global regulation of erythroid gene expression by transcription factor GATA-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Inducibility of the HS II enhancer depends on binding of an erythroid specific nuclear protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Two heme-binding domains of heme-regulated eukaryotic initiation factor-2alpha kinase. N terminus and kinase insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Characterization of the major regulatory element upstream of the human alpha-globin gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Heme regulates the dynamic exchange of Bach1 and NF-E2-related factors in the Maf transcription factor network

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Heme oxygenase-1 induction by NRF2 requires inactivation of the transcriptional repressor BACH1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hepcidin in iron overload disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

A mouse model of juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Evidence that inhibition of hemojuvelin shedding in response to iron is mediated through neogenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs).

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Distinct requirements for Hfe in basal and induced hepcidin levels in iron overload and inflammation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Diferric transferrin regulates transferrin receptor 2 protein stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Regulation of transferrin receptor 2 protein levels by transferrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Transferrin receptor 2: evidence for ligand-induced stabilization and redirection to a recycling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Regulation of hepcidin and iron-overload disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The serine protease TMPRSS6 is required to sense iron deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Interleukin-6 induces hepcidin expression through STAT3

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Molecular pathogenesis of anemia of chronic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hereditary hemochromatosis--a new look at an old disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Pathophysiology of hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β 2 -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The molecular basis of ferroportin-linked hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Rare causes of hereditary iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Not all DMT1 mutations lead to iron overload.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Recent advances in the understanding of inherited sideroblastic anaemia

21 January 2018

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https://api.crossref.org/works/10.1179%2F102453310X12583347009810

The genetics of inherited sideroblastic anemias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

Serum hepcidin level and erythropoietic activity after hematopoietic stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1179%2F102453310X12583347009810

10.1179/102453310X12583347009810

21 January 2018

Identifiers

DOI

1 reference

release_x2dd4v4ianar3jf65mxciazr5e

22 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/x2dd4v4ianar3jf65mxciazr5e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference