Familial Dysalbuminemic Hyperthyroxinemia
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Familial Dysalbuminemic Hyperthyroxinemia
Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in the human serum albumin Human serum albumin is the serum albumin found in human blood. It is the most abundant protein in human blood plasma; it constitutes about half of serum protein. It is produced in the liver. It is soluble in water, and it is monomeric. Albumin ... gene. The term was introduced in 1982. References External links Thyroid disease Albumin disorders {{endocrine-disease-stub ...
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Hyperthyroxinemia
Hyperthyroxinemia is a thyroid disease where the serum levels of thyroxine are higher than expected. Thyroxine or tetraiodothyronine (T4) is produced by the thyroid gland. The term is sometimes used to refer to hyperthyroidism, but hyperthyroidism is a more general term. When the level of thyroxine File:Thyroid_system.svg, upright=1.5, The thyroid system of the thyroid hormones T3 and T4 rect 376 268 820 433 Thyroid-stimulating hormone rect 411 200 849 266 Thyrotropin-releasing hormone rect 297 168 502 200 Hypothalamus rect 66 216 386 25 ... (T4) in the blood exceeds normal range, it can lead to symptoms such as irritability and unexplained weight loss. Types include: * Familial dysalbuminemic hyperthyroxinemia * Familial euthyroid hyperthyroxinemia * Thyroid hormone resistance syndrome References External links Thyroid disease {{endocrine-disease-stub ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ...
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Human Serum Albumin
Human serum albumin is the serum albumin found in human blood. It is the most abundant protein in human blood plasma; it constitutes about half of serum protein. It is produced in the liver. It is soluble in water, and it is monomeric. Albumin transports hormones, fatty acids, and other compounds, buffers pH, and maintains oncotic pressure, among other functions. Albumin is synthesized in the liver as preproalbumin, which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi apparatus to produce the secreted albumin. The reference range for albumin concentrations in serum is approximately 35–50 g/L (3.5–5.0 g/dL). It has a serum half-life of approximately 21 days. It has a molecular mass of 66.5 kDa. The gene for albumin is located on chromosome 4 in locus 4q13.3 and mutations in this gene can result in anomalous proteins. The human alb ...
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Thyroid Disease
Thyroid disease is a medical condition that affects the function of the thyroid gland. The thyroid gland is located at the front of the neck and produces thyroid hormones that travel through the blood to help regulate many other organs, meaning that it is an endocrine organ. These hormones normally act in the body to regulate energy use, infant development, and childhood development. There are five general types of thyroid disease, each with their own symptoms. A person may have one or several different types at the same time. The five groups are: # Hypothyroidism (low function) caused by not having enough free thyroid hormones # Hyperthyroidism (high function) caused by having too many free thyroid hormones # Structural abnormalities, most commonly a goiter (enlargement of the thyroid gland) # Tumors which can be benign (not cancerous) or cancerous # Abnormal thyroid function tests without any clinical symptoms (subclinical hypothyroidism or subclinical hyperthyroidism). In som ...
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