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Topic Review
Genome Editing Tools
Genome editing technology is a flexible engineering tool for genetic manipulation of microorganisms including fungi.
  • 902
  • 13 Apr 2021
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 901
  • 23 Dec 2020
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 901
  • 23 Dec 2020
Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 901
  • 24 Dec 2020
Topic Review
Emanuel Syndrome
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.  
  • 901
  • 25 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 901
  • 25 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 900
  • 23 Dec 2020
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 900
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 900
  • 24 Dec 2020
Topic Review
Sick Sinus Syndrome
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats.
  • 900
  • 25 Dec 2020
Topic Review
Ring Chromosome 14 Syndrome
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability.
  • 900
  • 24 Dec 2020
Topic Review
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.
  • 899
  • 24 Dec 2020
Topic Review
Regeneration Mechanisms in Holothurians
Holothurians, or sea cucumbers, belong to the phylum Echinodermata. They show good regenerative abilities. This entry provides an analysis of available data on the molecular aspects of regeneration mechanisms in holothurians. The genes and signaling pathways activated during the asexual reproduction and the formation of the anterior and posterior parts of the body, as well as the molecular mechanisms that provide regeneration of the nervous and digestive systems, are considered here. Damage causes a strong stress response, the signs of which are recorded even at late regeneration stages. In holothurian tissues, the concentrations of reactive oxygen species and antioxidant enzymes increase. Furthermore, the cellular and humoral components of the immune system are activated. Extracellular matrix remodeling and Wnt signaling play a major role in the regeneration in holothurians. All available morphological and molecular data show that the dedifferentiation of specialized cells in the remnant of the organ and the epithelial morphogenesis constitute the basis of regeneration in holothurians. 
  • 899
  • 02 Mar 2021
Topic Review
Tetrasomy 18p
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.  
  • 898
  • 23 Dec 2020
Topic Review
SOX9
SRY-box 9
  • 898
  • 24 Dec 2020
Topic Review
PMS2 Gene
PMS1 homolog 2, mismatch repair system component
  • 898
  • 25 Dec 2020
Topic Review
POLR3A Gene
RNA polymerase III subunit A
  • 898
  • 25 Dec 2020
Topic Review
Molecular Epidemiology across Cancer Types in Microsatellite Instability
Microsatellite instability (MSI) occurs in a wide variety of tumor types and is one of the most important predictive biomarkers for immune checkpoint inhibitor therapy.
  • 898
  • 23 Apr 2023
Topic Review
H19
H19, imprinted maternally expressed transcript
  • 897
  • 22 Dec 2020
Topic Review
NBN Gene
nibrin
  • 897
  • 23 Dec 2020
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