Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis (Q28188379)

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21 December 2019

title

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

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George Papanikolaou

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Marcia L E MacDonald

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author name string

Mark E Samuels

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Terry D Pape

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Y Paul Goldberg

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language of work or name

English

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publication date

30 November 2003

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21 December 2019

volume

36

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21 December 2019

issue

1

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21 December 2019

page(s)

77-82

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Natural history of juvenile haemochromatosis

21 December 2019

cites work

1 reference

7 January 2021

Juvenile hemochromatosis.

1 reference

7 January 2021

Juvenile hemochromatosis locus maps to chromosome 1q.

1 reference

7 January 2021

Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin

1 reference

7 January 2021

Linkage to chromosome 1q in Greek families with juvenile hemochromatosis

1 reference

7 January 2021

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

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

Hepcidin, a new iron regulatory peptide

1 reference

7 January 2021

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

7 January 2021

Hepcidin, a urinary antimicrobial peptide synthesized in the liver

1 reference

7 January 2021

Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease

1 reference

7 January 2021

Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

1 reference

7 January 2021

RGM is a repulsive guidance molecule for retinal axons

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

Decreased liver hepcidin expression in the Hfe knockout mouse

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7 January 2021

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

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7 January 2021

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

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7 January 2021

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease

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7 January 2021

2002 E. Mead Johnson Award for Research in Pediatrics Lecture: the molecular biology of the anemia of chronic disease: a hypothesis

1 reference

7 January 2021

The anaemia of infection

1 reference

7 January 2021

Pathogenesis and treatment of anaemia of chronic disease

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7 January 2021

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

1 reference

7 January 2021

Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity

1 reference

7 January 2021

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

7 January 2021

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

1 reference

7 January 2021

Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy Assessment

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7 January 2021

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

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7 January 2021

Identifiers

DOI

10.1038/NG1274

2 references

Consolidated OpenCitations Corpus – April 2017

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21 December 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017