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Topic Review
Mitochondrial DNA of Physarum polycephalum
The mtDNA of the myxomycete Physarum polycephalum can contain as many as 81 genes. These genes can be grouped in three different categories. The first category includes 46 genes that are classically found on the mtDNA of many organisms. A second category of gene is putative protein-coding genes represented by 26 significant open reading frames. The third category of gene is found in the mtDNA of some strains of P. polycephalum. These genes derive from a linear mitochondrial plasmid with nine significant, but unassigned, open reading frames which can integrate into the mitochondrial DNA by recombination.
  • 875
  • 13 Mar 2023
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 874
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 874
  • 23 Dec 2020
Topic Review
APOB Gene
apolipoprotein B
  • 874
  • 24 Dec 2020
Topic Review
Anauxetic Dysplasia
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
  • 874
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 874
  • 24 Dec 2020
Topic Review
Congenital Leptin Deficiency
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 874
  • 24 Dec 2020
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 874
  • 24 Dec 2020
Topic Review
SLC35A2-Congenital Disorder of Glycosylation
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
  • 874
  • 24 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 874
  • 24 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 873
  • 24 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 873
  • 25 Dec 2020
Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 872
  • 23 Dec 2020
Topic Review
Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 872
  • 23 Dec 2020
Topic Review
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems.
  • 872
  • 24 Dec 2020
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 872
  • 19 Apr 2021
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 872
  • 25 Dec 2020
Topic Review
Erythromelalgia
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
  • 872
  • 25 Dec 2020
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 871
  • 24 Dec 2020
Topic Review
Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 871
  • 24 Dec 2020
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