PAX8
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PAX8
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the ''PAX8'' gene. Function This gene is a member of the paired box ( PAX) family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type homeodomain. The PAX gene family has an important role in the formation of tissues and organs during embryonic development and maintaining the normal function of some cells after birth. The PAX genes give instructions for making proteins that attach themselves to certain areas of DNA. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. PAX8 releases the hormones important for regulating growth, brain development, and metabolism. Also functions in very early stages of kidney organogenesis, the müllerian system, and the thymus. Additionally, PAX8 is expressed in the renal excretory system, epithelial cells of ...
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Follicular Thyroid Cancer
Follicular thyroid cancer accounts for 15% of thyroid cancer and occurs more commonly in women over 50 years of age. Thyroglobulin (Tg) can be used as a tumor marker for well-differentiated follicular thyroid cancer. Thyroid follicular cells are the thyroid cells responsible for the production and secretion of thyroid hormones. Cause Associated mutations Approximately one-half of follicular thyroid carcinomas have mutations in the Ras subfamily of oncogenes, most notably HRAS, NRAS, and KRAS.Chapter 20 in: 8th edition. Mutations in MINPP1 have likewise been observed, as well as germline PTEN gene mutations responsible for Cowden syndrome of which follicular thyroid cancer is a feature. Also, a chromosomal translocation specific for follicular thyroid carcinomas is one between paired box gene 8 (PAX-8), a gene important in thyroid development, and the gene encoding peroxisome proliferator-activated receptor γ 1 (PPARγ1), a nuclear hormone receptor contributing to terminal diff ...
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Thyroid Dysgenesis
Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly. Congenital hypothyroidism caused by thyroid dysgenesis can be associated with PAX8. __TOC__ Ectopic thyroid An ''ectopic thyroid'', also called ''accessory thyroid gland'', is a form of thyroid dysgenesis in which an entire or parts of the thyroid located in another part of the body than what is the usual case. A completely ectopic thyroid gland may be located anywhere along the path of the descent of the thyroid during its embryological development, although it is most commonly located at the base of the tongue, just posterior to the foramen cecum of the tongue. In this location, an aberrant or ectopic thyroid gland is known as a ''lingual thyroid''. If the th ...
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NK2 Homeobox 1
NK2 homeobox 1 (NKX2-1), also known as thyroid transcription factor 1 (TTF-1), is a protein which in humans is encoded by the ''NKX2-1'' gene. Function Thyroid transcription factor-1 (TTF-1) is a protein that regulates transcription of genes specific for the thyroid, lung, and diencephalon. It is also known as thyroid specific enhancer binding protein. It is used in anatomic pathology as a marker to determine if a tumor arises from the lung or thyroid. NKX2.1 can be induced by activin A via SMAD2 signaling in a human embryonic stem cell differentiation model. NKX2.1 is key to the fetal development of lung structures. The dorsal-ventral pattern of NKX2.1 expression forms the ventral boundary in the anterior foregut. NKX2.1 is expressed only in select cells in the ventral wall of the anterior foregut, and is not expressed in the dorsal wall, where the esophagus will emerge from. NKX2.1 knockout in mice results in the development of a shortened trachea which is fused to th ...
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Homeodomain Fold
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full-grown organism. Homeoboxes are found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungi, plants, and numerous single cell eukaryotes. Homeobox genes encode homeodomain protein products that are transcription factors sharing a characteristic protein fold structure that binds DNA to regulate expression of target genes. Homeodomain proteins regulate gene expression and cell differentiation during early embryonic development, thus mutations in homeobox genes can cause developmental disorders. Homeosis is a term coined by William Bateson to describe the outright replacement of a discrete body part with another body part, e.g. antennapedia—replacement of the antenna on t ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid ...
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Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ...
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Pax Genes
Pax or PAX may refer to: Peace * Peace (Latin: ''pax'') ** Pax (goddess), the Roman goddess of peace ** Pax, a truce term * Pax (liturgy), a salutation in Catholic and Lutheran religious services * Pax (liturgical object), an object formerly kissed as a substitute for the Kiss of Peace in the Catholic Mass Entertainment * ''Pax'' (1994 film), a Portuguese comedy * ''Pax'' (2011 film), a Norwegian-Swedish drama * PAX (event), a gamer festival * ''Pax'' (novel), by Sara Pennypacker * Pax, a fictional organization in '' Strange New World'' and elsewhere by Gene Roddenberry * PAX, a side project of the German band X Marks the Pedwalk * ''Pax'' (album) by Andrew Hill * Pax TV, which became Ion Television in 2007 Organizations * Pax Christi International, an international Catholic peace movement * PAX Association, in Poland * Pax Forlag, a Norwegian publishing house * PAX Network, a US television network now known as ION Television * Pax World Funds, a US mutual fund company ...
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Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization ( body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are up to 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of ...
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Paired Box Domain
Pair or PAIR or Pairing may refer to: Government and politics * Pair (parliamentary convention), matching of members unable to attend, so as not to change the voting margin * ''Pair'', a member of the Prussian House of Lords * ''Pair'', the French equivalent of peer, holder of a French Pairie, a French high title roughly equivalent to a member of the British peerage Mathematics * 2 (number), two of something, a pair * 2-tuple, in mathematics and set theory * Ordered pair, in mathematics and set theory * Pairing, in mathematics, an R-bilinear map of modules, where R is the underlying ring * Pair type, in programming languages and type theory, a product type with two component types * Topological pair, an inclusion of topological spaces Science and technology * Couple (app), formerly Pair, a mobile application for two people * PAIR (puncture-aspiration-injection-reaspiration), in medicine * Pairing, a handshaking process in Bluetooth communications * Pair programming, an agile ...
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Thyroid Epithelial Cell
Thyroid follicular cells (also called thyroid epithelial cells or thyrocytes) are the major cell type in the thyroid gland, and are responsible for the production and secretion of the thyroid hormones thyroxine (T4) and triiodothyronine (T3). They form the single layer of cuboidal epithelium that makes up the outer structure of the almost spherical thyroid follicle. Structure Location Thyroid follicular cells form a simple cuboidal epithelium and are arranged in spherical thyroid follicles surrounding a fluid filled space known as the colloid. The interior space formed by the follicular cells is known as the follicular lumen. The basolateral membrane of follicular cells contains thyrotropin receptors which bind to thyroid-stimulating hormone (TSH) found circulating in the blood. Calcitonin-producing parafollicular cells are also found along the basement membrane of the thyroid follicle, interspersed between follicular cells; and in spaces between the spherical follicles. Para ...
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Thyroid Adenoma
A thyroid adenoma is a benign tumor of the thyroid gland, that may be inactive or active (functioning autonomously) as a toxic adenoma. Signs and symptoms A thyroid adenoma may be clinically silent ("cold" adenoma), or it may be a functional tumor, producing excessive thyroid hormone ("warm" or "hot" adenoma). In this case, it may result in symptomatic hyperthyroidism, and may be referred to as a toxic thyroid adenoma. Diagnosis Morphology Thyroid follicular adenoma ranges in diameter from 3 cm on an average, but sometimes is larger (up to 10 cm) or smaller. The typical thyroid adenoma is solitary, spherical and encapsulated lesion that is well demarcated from the surrounding parenchyma. The color ranges from gray-white to red-brown, depending upon # the cellularity of the adenoma # the colloid content. Areas of hemorrhage, fibrosis, calcification, and cystic change, similar to what is found in multinodular goiters, are common in thyroid (follicular) adenoma, particula ...
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