Are oxidative stress mechanisms the common denominator in the progression from hepatic steatosis towards non‐alcoholic steatohepatitis (NASH)?

Z Tariq, CJ Green, L Hodson - Liver International, 2014 - Wiley Online Library
Non‐alcoholic fatty liver disease (NAFLD) is not a single disease entity, rather it describes a
spectrum of liver conditions that range from fatty liver (steatosis) to more severe steatosis …

Iron storage disease: facts, fiction and progress

E Beutler - Blood Cells, Molecules, and Diseases, 2007 - Elsevier
There are many forms of iron storage disease, some hereditary and some acquired. The
most common of the hereditary forms is HFE-associated hemochromatosis, and it is this …

Impact of hemochromatosis gene mutations on cardiac status in doxorubicin‐treated survivors of childhood high‐risk leukemia

SE Lipshultz, SR Lipsitz, JL Kutok, TL Miller… - Cancer, 2013 - Wiley Online Library
BACKGROUND Doxorubicin is associated with progressive cardiac dysfunction, possibly
through the formation of doxorubicin‐iron complexes leading to free‐radical injury. The …

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

N Machev, N Saut, G Longepied, P Terriou… - Journal of medical …, 2004 - jmg.bmj.com
Background: Complete deletion of the complete AZFc interval of the Y chromosome is the
most common known genetic cause of human male infertility. Two partial AZFc deletions …

[HTML][HTML] Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

J Milet, V Déhais, C Bourgain, AM Jouanolle… - The American Journal of …, 2007 - cell.com
Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.
Cys282Tyr/p. Cys282Tyr) genotype in white populations. The symptoms expressed by …

[HTML][HTML] The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations

EE Mueller, W Eder, S Ebner, E Schwaiger, D Santic… - PloS one, 2011 - journals.plos.org
Background The pivotal role of mitochondria in energy production and free radical
generation suggests that the mitochondrial genome could have an important influence on …

The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis

L Valenti, D Conte, A Piperno, P Dongiovanni… - Journal of medical …, 2004 - jmg.bmj.com
The A16V mitochondrial targeting sequence polymorphism influences the antioxidant
activity of MnSOD, an enzyme involved in neutralising iron induced oxidative stress. Patients …

The penetrance of hereditary hemochromatosis

J Waalen, BG Nordestgaard, E Beutler - Best Practice & Research Clinical …, 2005 - Elsevier
Since its original description as a rare disease of iron overload resulting in liver disease,
diabetes mellitus, and bronzing of the skin ('bronze diabetes'), hereditary hemochromatosis …

[HTML][HTML] The molecular genetics of haemochromatosis

G Le Gac, C Férec - European journal of human genetics, 2005 - nature.com
The molecular basis of haemochromatosis has proved more complex than expected. After
the 1996 identification of the main causative gene HFE and confirmation that most patients …

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 …