Structural Investigations of a New Familial Dysalbuminemic Hyperthyroxinemia Genotype
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چکیده
منابع مشابه
Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype.
BACKGROUND In a previous study, we found that the amino acid substitution R218H in human serum albumin (HSA) was the cause of familial dysalbuminemic hyperthyroxinemia (FDH) in several Caucasian patients. Subsequently the substitution R218P was shown to be the cause of FDH in several members of a Japanese family. This study attempts to resolve discrepancies in the only other study of R218P HSA ...
متن کاملStructural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.
Human serum albumin (HSA) is the major protein component of blood plasma and serves as a transporter for thyroxine and other hydrophobic compounds such as fatty acids and bilirubin. We report here a structural characterization of HSA-thyroxine interactions. Using crystallographic analyses we have identified four binding sites for thyroxine on HSA distributed in subdomains IIA, IIIA, and IIIB. M...
متن کاملFluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia.
Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant syndrome in which clinically euthyroid patients have elevated total thyroxine levels. These high serum thyroxine levels are traceable to altered binding of thyroxine to the patient's albumin. Albumin from FDH patients and normal volunteers have been purified. Reverse-phase and ion-exchange high performance liquid chromatog...
متن کاملFamilial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.
1. Barassi A, Pallotti F, Melzi d’Eril GV. Biological variation of procalcitonin in healthy individuals. Clin Chem 2004;50:1878. 2. Assicot M, Gendrel D, Carsin H, Raymond J, Guilbaud J, Bohuon C. High serum procalcitonin concentrations in patients with sepsis and infection. Lancet 1993;341:515–8. 3. Stolz D, Christ-Crain M, Bingisser R, Leuppi J, Miedinger D, Müller C, et al. Antibiotic treatm...
متن کاملA Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia
CONTEXT Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T4 affinity, causes artefactual elevation of free T4 concentrations in euthyroid individuals. OBJECTIVE Four unrelated index cases with discordant thyroid function tests in different assay platforms were investigated. DESIGN AND RESULTS Laboratory biochemical assessment, radiolabe...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1999
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/45.8.1248