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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin. [6] The HFE gene contains 7 exons spanning 12 kb. [7] The full-length transcript represents 6 exons. [8] HFE protein is composed of 343 amino acids. There are several components, in sequence ...
Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation. [1] Although the disease is rare, it is found throughout the world and affects people from various ethnic groups.
Protein therapeutics are proteins used as experimental or approved therapies for disease states. They include "monoclonal antibodies (mAbs), peptide hormones, growth factors, plasma proteins, enzymes, and hemolytic factors" [1] While proteins can be more specific and flexible in their mechanism of action compared to small-molecule drugs, duration of action and drug delivery can be a challenge.
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress , as elevated intracellular iron levels increase free radical formation via the Fenton reaction .
Protein replacement therapy is a medical treatment that supplements or replaces a protein in patients in whom that particular protein is deficient or absent. [1] [2] There have been significant advances in this treatment. PRT is being tested in clinical trials with the diseases progeria and epidermolysis bullosa dystrophica as a potential ...
Jasper’s journey from the shelter to a loving home began in the corridors of a rescue facility, where he spent seven long months. During this time, the affectionate dog struggled with bouts of ...
The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption.