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Topic Review
Spastic Paraplegia Type 7
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 991
  • 23 Dec 2020
Topic Review
Task-specific Focal Dystonia
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.  
  • 991
  • 23 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 991
  • 24 Dec 2020
Topic Review
Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose.
  • 991
  • 24 Dec 2020
Topic Review
NOG Gene
noggin
  • 991
  • 24 Dec 2020
Topic Review
CF aerosol related cellular models
The respiratory epithelium can be affected by many diseases that could be treated using aerosol gene therapy. Among these, cystic fibrosis (CF) is a lethal inherited disease characterized by airways complications, which determine the life expectancy and the effectiveness of aerosolized treatments. Beside evaluations performed under in vivo settings, cell culture models mimicking in vivo pathophysiological conditions can provide complementary insights into the potential of gene transfer strategies. Such models must consider multiple parameters, following the rationale that proper gene transfer evaluations depend on whether they are performed under experimental conditions close to pathophysiological settings. In addition, the mucus layer, which covers the epithelial cells, constitutes a physical barrier for gene delivery, especially in diseases such as CF. Artificial mucus models featuring physical and biological properties similar to CF mucus allow determining the ability of gene transfer systems to effectively reach the underlying epithelium.
  • 991
  • 14 Jan 2021
Topic Review
Epigenetic Modifications in Plant Development and Reproduction
Plants are exposed to highly fluctuating effects of light, temperature, weather conditions, and many other environmental factors throughout their life. As sessile organisms, unlike animals, they are unable to escape, hide, or even change their position. Therefore, the growth and development of plants are largely determined by interaction with the external environment. The success of this interaction depends on the ability of the phenotype plasticity, which is largely determined by epigenetic regulation. In addition to how environmental factors can change the patterns of genes expression, epigenetic regulation determines how genetic expression changes during the differentiation of one cell type into another and how patterns of gene expression are passed from one cell to its descendants. Thus, one genome can generate many ‘epigenomes’. Epigenetic modifications acquire special significance during the formation of gametes and plant reproduction when epigenetic marks are eliminated during meiosis and early embryogenesis and later reappear. However, during asexual plant reproduction, when meiosis is absent or suspended, epigenetic modifications that have arisen in the parental sporophyte can be transmitted to the next clonal generation practically unchanged. In plants that reproduce sexually and asexually, epigenetic variability has different adaptive significance.
  • 991
  • 22 Dec 2021
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 990
  • 24 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 990
  • 24 Dec 2020
Topic Review
Familial Candidiasis
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
  • 990
  • 25 Dec 2020
Topic Review
TSC2 Gene
TSC complex subunit 2
  • 990
  • 25 Dec 2020
Topic Review
Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process.
  • 989
  • 23 Dec 2020
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 989
  • 24 Dec 2020
Topic Review
ACTA1 Gene
actin, alpha 1, skeletal muscle
  • 989
  • 24 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 989
  • 24 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 988
  • 24 Dec 2020
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 988
  • 24 Dec 2020
Topic Review
OPRM1 Gene
opioid receptor mu 1
  • 988
  • 24 Dec 2020
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 987
  • 23 Dec 2020
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
  • 987
  • 23 Dec 2020
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