Haemochromatosis

P Brissot, A Pietrangelo, PC Adams… - Nature reviews Disease …, 2018 - nature.com
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a
reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in …

[PDF][PDF] Diet, weight loss, and liver health in nonalcoholic fatty liver disease: Pathophysiology, evidence, and practice

G Marchesini, S Petta, R Dalle Grave - Hepatology, 2016 - Wiley Online Library
Fatty liver accumulation results from an imbalance between lipid deposition and removal,
driven by the hepatic synthesis of triglycerides and de novo lipogenesis. The habitual diet …

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 …

[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 …

The genetics of alcohol dependence and alcohol-related liver disease

F Stickel, C Moreno, J Hampe, MY Morgan - Journal of hepatology, 2017 - Elsevier
The susceptibility to developing alcohol dependence and significant alcohol-related liver
injury is determined by a number of constitutional, environmental and genetic factors …

Genetics, genetic testing, and management of hemochromatosis: 15 years since hepcidin

A Pietrangelo - Gastroenterology, 2015 - Elsevier
The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research
and discoveries in the iron field have dramatically changed our understanding of human …

A decade in psychiatric GWAS research

T Horwitz, K Lam, Y Chen, Y Xia, C Liu - Molecular psychiatry, 2019 - nature.com
After more than 10 years of accumulated efforts, genome-wide association studies (GWAS)
have led to many findings, most of which have been deposited into the GWAS Catalog …

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 …

Iron metabolism and related genetic diseases: A cleared land, keeping mysteries

P Brissot, O Loréal - Journal of hepatology, 2016 - Elsevier
Body iron has a very close relationship with the liver. Physiologically, the liver synthesizes
transferrin, in charge of blood iron transport; ceruloplasmin, acting through its ferroxidase …

[HTML][HTML] Inherited disorders of iron overload

K Pantopoulos - Frontiers in nutrition, 2018 - frontiersin.org
Dietary iron absorption and systemic iron traffic are tightly controlled by hepcidin, a liver-
derived peptide hormone. Hepcidin inhibits iron entry into plasma by binding to and …