نتایج جستجو برای: hemojuvelin mutation
تعداد نتایج: 291556 فیلتر نتایج به سال:
Matriptase-2 (TMPRSS6) is an important negative regulator of hepcidin expression; however, the effects of iron overload or accelerated erythropoiesis on liver TMPRSS6 protein content in vivo are largely unknown. We determined TMPRSS6 protein content in plasma membrane-enriched fractions of liver homogenates by immunoblotting, using a commercial antibody raised against the catalytic domain of TM...
Iron disorders, including various anemias and iron overload conditions, are common and affect millions of people worldwide. Advances in iron biology over the last decade have prompted a fundamental revision of our understanding of iron homeostasis, and opened the door to a new era of diagnostic and therapeutic developments for iron disorders. During normal homeostasis, iron is conserved. On a d...
Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic expression of hepcidin and other iron-related genes were measured by qRT-PCR. Urinary hepcidin was measured at basel...
Patients with alcoholic liver disease (ALD) frequently exhibit iron overload but the molecular mechanisms of alcohol and iron interaction are still unclear. This study investigated the role of alcohol in the regulation of ironresponsive genes, hepcidin, hemojuvelin and leap-2 in both dietary and genetic mouse models. Ethanol significantly down-regulated liver hepcidin and hemojuvelin gene expre...
Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochroma...
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expr...
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expr...
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