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Topic Review
Warfarin Resistance
Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming.
  • 1.2K
  • 23 Dec 2020
Topic Review
Klinefelter Syndrome
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development.
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  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 2
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.  
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  • 23 Dec 2020
Topic Review
Chromosome 16
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
CircRNAs
Circular RNAs (circRNAs) are a class of non-coding RNAs that form a covalently closed loop.
  • 1.2K
  • 02 Feb 2021
Topic Review
Stickler syndrome
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  
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  • 23 Dec 2020
Topic Review
Lujan Syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
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  • 24 Dec 2020
Topic Review
Apomixis Sensu Stricto
Apomixis may now be regarded as a consequence of sexual failure (i.e., loss-of-function) rather than as a recipe for clonal success (i.e., gain-of-function). There is increasing evidence that apomixis is a modification of the normal sexual developmental pathway. Most of the events that characterize sexual reproduction may be retained both structurally and functionally in apomictic reproduction, with the exceptions that the reduced egg cell is replaced by an unreduced egg cell, with absent or modified meiosis (i.e., apomeiosis), and the seed development does occur without egg cell fertilization (i.e., parthenogenesis). In addition, it is clear that residual sexual function is retained in pseudogamous apomixis, as seed development may occur without fertilization of either the egg cell or the central cell (i.e., autonomous apomixis), but fertilization may be required to form the endosperm in many apomictic plants.
  • 1.2K
  • 26 Oct 2020
Topic Review
Epigenetics
Changes in gene expression/phenotype without underlying DNA modification.
  • 1.2K
  • 21 Dec 2020
Topic Review
PTCH1 Gene
patched 1
  • 1.2K
  • 23 Dec 2020
Topic Review
Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
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  • 24 Dec 2020
Topic Review
Sex-Chromosome Dosage Compensation
Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological sexes. Across species, different sexes are often characterized by different types and numbers of sex chromosomes. In order to neutralize the large difference in gene dosage produced by differing numbers of sex chromosomes among the sexes, various evolutionary branches have acquired various methods to equalize gene expression among the sexes. Because sex chromosomes contain different numbers of genes, different species of organisms have developed different mechanisms to cope with this inequality. Replicating the actual gene is impossible; thus organisms instead equalize the expression from each gene. For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information from the other, expressed X chromosome. Thus, human females have the same number of expressed X-linked genes as do human males (XY), both sexes having essentially one X chromosome per cell, from which to transcribe and express genes. There are three main mechanisms of achieving dosage compensation which are widely documented in the literature and which are common to most species. These include random inactivation of one female X chromosome (as observed in Mus musculus; this is called X-inactivation), a two-fold increase in the transcription of a single male X chromosome (as observed in Drosophila melanogaster), and decreased transcription by half in both of the X chromosomes of a hermaphroditic organism (as observed in Caenorhabditis elegans). These mechanisms have been widely studied and manipulated in model organisms commonly used in the laboratory research setting. A summary of these forms of dosage compensation is illustrated below. However, there are also other less common forms of dosage compensation, which are not as widely researched and are sometimes specific to only one species (as observed in certain bird and monotreme species).
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  • 20 Oct 2022
Topic Review
GNAS Gene
GNAS complex locus
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  • 23 Dec 2020
Topic Review
Small Fiber Neuropathy
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands.
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  • 25 Dec 2020
Topic Review
Grange Syndrome
Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart.
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  • 23 Dec 2020
Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
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  • 23 Dec 2020
Topic Review
AML with Myelodysplasia-Related Changes
Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) is a distinct biologic subtype of AML that represents 25–34% of all AML diagnoses and associates with especially inferior outcomes compared to non-MRC AML. Typically, patients with AML-MRC experience low remission rates following intensive chemotherapy and a median overall survival of merely 9–12 months. In light of these discouraging outcomes, it has become evident that more effective therapies are needed for patients with AML-MRC. Liposomal daunorubicin–cytarabine (CPX-351) was approved in 2017 for adults with newly diagnosed AML-MRC and those with therapy-related AML (t-AML), and remains the only therapy specifically approved for this patient population.
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  • 26 Oct 2020
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
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  • 24 Dec 2020
Topic Review
FFEVF
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families.
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  • 04 Jan 2021
Topic Review
Childhood Myocerebrohepatopathy Spectrum
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders.
  • 1.2K
  • 24 Dec 2020
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