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Topic Review
GCH1 Gene
GTP cyclohydrolase 1: The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. 
  • 822
  • 25 Dec 2020
Topic Review
Instability of Non-Standard Microsatellites
Elevated microsatellite alterations at selected tetranucleotide (EMAST) repeats are a genetic signature of colorectal cancers and are caused by somatic dysfunction of the DNA mismatch repair (MMR) protein MutS Homolog 3 (MSH3). There are very few data showing the relation of EMAST presence in the genome with the response to treatment, and there is no information about the metastatic setting. To the best of our knowledge, this is the first study evaluating the correlation between EMAST and response to treatment with chemotherapy or chemotherapy plus bevacizumab in metastatic colorectal cancer (mCRC).  
  • 821
  • 30 Oct 2020
Topic Review
Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body.
  • 821
  • 24 Dec 2020
Topic Review
SERPINA6 Gene
serpin family A member 6
  • 821
  • 24 Dec 2020
Topic Review
Darier Disease
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet.
  • 821
  • 24 Dec 2020
Topic Review
ALAS2 Gene
5'-aminolevulinate synthase 2
  • 821
  • 24 Dec 2020
Topic Review
CYP3A5 Genotype
Transplanted patients on tacrolimus treatment are sometimes switched from an immediate release (bid) formulation to a modified release (qd) formulation. Following the switch changes in drug concentrations can be observed. Published data suggest that these changes are more pronounced in CYP3A5 enzyme expressers than in non-expressers. Possibly these differences are due to the fact that in the upper region of the small intestine CYP3A activity is higher, and that this expression of CYP3A decreases towards the more distal parts of the gut. Modified release formulations may therefore be subject to less pre-systemic metabolism. In all patients in whom the formulation of tacrolimus is changed drug levels need to be checked to avoid clinically relevant under- or over-exposure. In patients with the CYP3A5 expresser genotype this recommendation is even more important, as changes in drug exposure can be expected. 
  • 821
  • 18 Jan 2021
Topic Review
Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body.
  • 820
  • 24 Dec 2020
Topic Review
ESCO2 Gene
Establishment of sister chromatid cohesion N-acetyltransferase 2
  • 820
  • 24 Dec 2020
Topic Review
Systemic Scleroderma
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.  
  • 819
  • 23 Dec 2020
Topic Review
Granulomatosis with Polyangiitis
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is formerly known as Wegener granulomatosis.
  • 819
  • 23 Dec 2020
Topic Review
Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
  • 819
  • 24 Dec 2020
Topic Review
Pulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs.
  • 819
  • 24 Dec 2020
Topic Review
KCNK9 Imprinting Syndrome
KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth.
  • 818
  • 23 Dec 2020
Topic Review
Asparagine Synthetase Deficiency
Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay that affects both mental and motor skills (psychomotor delay). Affected individuals cannot sit, crawl, or walk and are unable to communicate verbally or nonverbally. The few affected children who achieve developmental milestones often lose these skills over time (developmental regression).
  • 818
  • 24 Dec 2020
Topic Review
ZAP70-related Severe Combined Immunodeficiency
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system.
  • 818
  • 24 Dec 2020
Topic Review
TCOF1 Gene
Treacle ribosome biogenesis factor 1: The TCOF1 gene provides instructions for making a protein called treacle.
  • 817
  • 24 Dec 2020
Topic Review
Dark Genome in AD Aetiology
Sporadic Alzheimer’s disease (AD) is a complex genetic disease, and the leading cause of dementia worldwide. While great strides have been made in understanding the genetic aetiology of disease there remains a large proportion of the genome unexplored for complex disease.
  • 817
  • 31 May 2021
Topic Review
Hennekam Syndrome
Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 816
  • 04 Apr 2021
Topic Review
Ichthyosis with Confetti
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people.
  • 816
  • 23 Dec 2020
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