Haemochromatosis
LW Powell, RC Seckington, Y Deugnier - The Lancet, 2016 - thelancet.com
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity
but with a final common metabolic pathway resulting in inappropriately low production of the …
but with a final common metabolic pathway resulting in inappropriately low production of the …
Mammalian iron homeostasis in health and disease: uptake, storage, transport, and molecular mechanisms of action
A Lawen, DJR Lane - Antioxidants & redox signaling, 2013 - liebertpub.com
Iron is a crucial factor for life. However, it also has the potential to cause the formation of
noxious free radicals. These double-edged sword characteristics demand a tight regulation …
noxious free radicals. These double-edged sword characteristics demand a tight regulation …
[HTML][HTML] Inherited iron overload disorders
A Piperno, S Pelucchi, R Mariani - Translational gastroenterology …, 2020 - ncbi.nlm.nih.gov
Hereditary iron overload includes several disorders characterized by iron accumulation in
tissues, organs, or even single cells or subcellular compartments. They are determined by …
tissues, organs, or even single cells or subcellular compartments. They are determined by …
Angiocrine Bmp2 signaling in murine liver controls normal iron homeostasis
PS Koch, V Olsavszky, F Ulbrich… - Blood, The Journal …, 2017 - ashpublications.org
Microvascular endothelial cells (ECs) display a high degree of phenotypic and functional
heterogeneity among different organs. Organ-specific ECs control their tissue …
heterogeneity among different organs. Organ-specific ECs control their tissue …
HFE gene: Structure, function, mutations, and associated iron abnormalities
JC Barton, CQ Edwards, RT Acton - Gene, 2015 - Elsevier
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …
and pathologic manifestations of hemochromatosis were reported. Linked to the major …
[HTML][HTML] Revisiting hemochromatosis: genetic vs. phenotypic manifestations
GJ Anderson, E Bardou-Jacquet - Annals of translational medicine, 2021 - ncbi.nlm.nih.gov
Iron overload disorders represent an important class of human diseases. Of the primary iron
overload conditions, by far the most common and best studied is HFE-related …
overload conditions, by far the most common and best studied is HFE-related …
TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia
A variety of conditions lead to anemia, which affects one-quarter of the world's population.
Previous genome-wide association studies revealed a number of genetic polymorphisms …
Previous genome-wide association studies revealed a number of genetic polymorphisms …
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
M De Tayrac, MP Roth, AM Jouanolle, H Coppin… - Journal of …, 2015 - Elsevier
Background & Aims Hereditary hemochromatosis (HH) is the most common form of genetic
iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the …
iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the …
[PDF][PDF] Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis
Hereditary hemochromatosis (HH) is a common inherited iron overload disorder. The vast
majority of patients carry the missense Cys282Tyr mutation of the HFE gene. Hepcidin, the …
majority of patients carry the missense Cys282Tyr mutation of the HFE gene. Hepcidin, the …
Factors influencing disease phenotype and penetrance in HFE haemochromatosis
Haemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is present in approximately 1 in 200 people of Northern European origin …
genotype, which is present in approximately 1 in 200 people of Northern European origin …