Encontrados 3 documentos, a visualizar página 1 de 1

Variantes genéticas da hormona hepcidina contribuem para aumentar os níveis da ...

Variants of Hepcidin Gene Promoter Modulate Iron Status in H63d Individuals

Background: HFE is a major histocompatibility complex class I-like protein that is mutated in Hereditary Hemochromatosis (HH). Despite C282Y being the most common HH-associated HFE mutation, there are other reported mutations, such as H63D, with an uncertain role in the pathogenesis of the disease. Hepcidin is a crucial regulator of systemic iron homeostasis, controlling the absorption of iron by enterocytes an...

Hepcidin Gene Promoter c.-1010T and c.-582G Variants are Modulators of Iron Ove...

Mutated HFE gene/protein is usually associated with Hereditary Hemochromatosis (HH). Despite C282Y being the most common HH-associated HFE mutation, others, such as H63D, also have an uncertain role in the pathogenesis of HH. Hepcidin is a crucial regulator of systemic iron homeostasis, controlling both iron absorption by enterocytes and its release by macrophages. Mutations in Hepcidin gene (HAMP) result in th...