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Topic Review
TPMT Gene
Thiopurine S-methyltransferase: The TPMT gene provides instructions for making an enzyme called thiopurine S-methyltransferase (TPMT).
  • 867
  • 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). 
  • 866
  • 24 Dec 2020
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.
  • 866
  • 24 Dec 2020
Topic Review
TGM1 Gene
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. 
  • 866
  • 25 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.
  • 866
  • 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.
  • 866
  • 03 Aug 2021
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 865
  • 23 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 865
  • 23 Dec 2020
Topic Review
Warfarin Sensitivity
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin.
  • 865
  • 23 Dec 2020
Topic Review
RET Gene
ret proto-oncogene
  • 865
  • 23 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 865
  • 24 Dec 2020
Topic Review
ADAR Gene
adenosine deaminase, RNA specific
  • 865
  • 24 Dec 2020
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 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
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
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 864
  • 23 Dec 2020
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 864
  • 24 Dec 2020
Topic Review
SCN1A Gene
sodium voltage-gated channel alpha subunit 1
  • 864
  • 24 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.
  • 864
  • 25 Dec 2020
Topic Review
TET2 Gene
Tet methylcytosine dioxygenase 2: The TET2 gene provides instructions for making a protein whose function is unknown. 
  • 864
  • 25 Dec 2020
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