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Topic Review
Bare Lymphocyte Syndrome Type I
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.
  • 865
  • 24 Dec 2020
Topic Review
TMCO1 Gene
Transmembrane and coiled-coil domains 1: The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow.
  • 865
  • 25 Dec 2020
Topic Review
TPM2 Gene
Tropomyosin 2: The TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. 
  • 865
  • 25 Dec 2020
Topic Review
MicroRNA in Liver Fibrosis
Several miRNAs are associated with organ-specific and systemic fibrosis in the liver. Individual expression of miRNAs in plasma or serum is useful for liver fibrosis detection. In addition, some miRNAs can distinguish between early and late fibrosis with high sensitivity and specificity equal to or greater than the APRI and Fib-4 index.
  • 865
  • 03 Aug 2021
Topic Review
TRNT1 Gene
tRNA nucleotidyl transferase 1: The TRNT1 gene provides instructions for making a protein involved in the production (synthesis) of other proteins.
  • 865
  • 25 Dec 2020
Topic Review
TARDBP Gene
TAR DNA binding protein: The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). 
  • 864
  • 24 Dec 2020
Topic Review
Cytochrome c Oxidase Deficiency
Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.
  • 864
  • 24 Dec 2020
Topic Review
ADAR Gene
adenosine deaminase, RNA specific
  • 864
  • 24 Dec 2020
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 864
  • 25 Dec 2020
Topic Review
TPM3 Gene
Tropomyosin 3: The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. 
  • 864
  • 25 Dec 2020
Topic Review
Warfarin Sensitivity
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin.
  • 864
  • 23 Dec 2020
Topic Review
Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis).
  • 864
  • 23 Dec 2020
Topic Review
Early-onset Myopathy with Fatal Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
  • 863
  • 25 Dec 2020
Topic Review
TET2 Gene
Tet methylcytosine dioxygenase 2: The TET2 gene provides instructions for making a protein whose function is unknown. 
  • 863
  • 25 Dec 2020
Topic Review
Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
  • 863
  • 25 Dec 2020
Topic Review
TGM1 Gene
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. 
  • 863
  • 25 Dec 2020
Topic Review
PLP1 Gene
proteolipid protein 1
  • 863
  • 25 Dec 2020
Topic Review
GRN-Related Frontotemporal Lobar Degeneration
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement.
  • 862
  • 23 Dec 2020
Topic Review
Hereditary Hyperekplexia
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.
  • 862
  • 23 Dec 2020
Topic Review
TCIRG1 Gene
TCIRG1 Gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3. The TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase).
  • 862
  • 24 Dec 2020
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