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Topic Review
16p11.2 deletion syndrome
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.  
  • 667
  • 10 Apr 2021
Topic Review
16p11.2 Duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.
  • 823
  • 23 Dec 2020
Topic Review
16p12.2 Microdeletion
16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.
  • 1.4K
  • 23 Dec 2020
Topic Review
16S rRNA Next-Generation Sequencing
The 16S rRNA gene is highly conserved in all bacteria (and also archaea). Nonetheless, it contains nine hypervariable regions (V1 - V9), where sequences of these regions can be used to identify and discriminate bacterial genus, sometimes until the species level. This makes the gene a useful tool for phylogenetic studies. With the introduction of next-generation sequencing technologies, 16S rRNA next-generation sequencing (16SNGS) has allowed profiling of bacterial communities found in organisms and the environment, and lead to the discovery of many previously unculturable members of the bacteria kingdom.
  • 4.0K
  • 18 May 2021
Topic Review
17 Alpha-Hydroxylase/17,20-Lyase Deficiency
17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.
  • 693
  • 23 Dec 2020
Topic Review
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 820
  • 23 Dec 2020
Topic Review
17q12 Deletion Syndrome
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.
  • 745
  • 23 Dec 2020
Topic Review
17q12 duplication
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.
  • 825
  • 23 Dec 2020
Topic Review
18 kDa Translocator Protein
Neuroactive steroids are potent modulators of microglial functions and are capable of counteracting their excessive reactivity. This action has mainly been ascribed to neuroactive steroids released from other sources, as microglia have been defined unable to produce neurosteroids de novo. Unexpectedly, immortalized murine microglia recently exhibited this de novo biosynthesis; herein, de novo neurosteroidogenesis was characterized in immortalized human microglia. The results demonstrated that C20 and HMC3 microglial cells constitutively express members of the neurosteroidogenesis multiprotein machinery—in particular, the transduceosome members StAR and TSPO, and the enzyme CYP11A1. Moreover, both cell lines produce pregnenolone and transcriptionally express the enzymes involved in neurosteroidogenesis. The high TSPO expression levels observed in microglia prompted us to assess its role in de novo neurosteroidogenesis. TSPO siRNA and TSPO synthetic ligand treatments were used to reduce and prompt TSPO function, respectively. The TSPO expression downregulation compromised the de novo neurosteroidogenesis and led to an increase in StAR expression, probably as a compensatory mechanism. 
  • 559
  • 06 May 2021
Topic Review
18F-Fluorodeoxyglucose (FDG) in Atherosclerosis
18F-Fluorodeoxyglucose (FDG) is a glucose analogue and the most-validated radiotracer for imaging high metabolically active inflammatory cells (e.g., macrophages) and tissues (e.g., atherosclerotic plaques) in animal models and humans [10]. The results have proven to be reproducible and modifiable via interventions that are anti-inflammatory [11]. FDG-PET imaging may mirror inflammatory activity in atherosclerosis due to the consumption of large amounts of glucose by inflammatory cells compared to other plaque cells.
  • 554
  • 28 Oct 2021
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