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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
diabetes mellitus, and bronzing of the skin ('bronze diabetes'), hereditary hemochromatosis …
[HTML][HTML] The molecular genetics of haemochromatosis
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 …
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 …
iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the …