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Topic Review
Spastic Paraplegia Type 15
Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.  
  • 680
  • 23 Dec 2020
Topic Review
Ghosal Hematodiaphyseal Dysplasia
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.
  • 680
  • 23 Dec 2020
Topic Review
HNF4A Gene
Hepatocyte nuclear factor 4 alpha
  • 680
  • 23 Dec 2020
Topic Review
LMNA-Related Congenital Muscular Dystrophy
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
  • 680
  • 23 Dec 2020
Topic Review
ATP6V0A4 Gene
ATPase H+ transporting V0 subunit a4
  • 680
  • 24 Dec 2020
Topic Review
CAVIN1 Gene
caveolae associated protein 1
  • 680
  • 24 Dec 2020
Topic Review
COL4A1 Gene
collagen type IV alpha 1 chain
  • 680
  • 24 Dec 2020
Topic Review
Non-Canonical RNAi in Mucorales Virulence
Mortality rates of mucormycosis can reach up to 90%, due to the mucoralean antifungal drug resistance and the lack of effective therapies. Non-canonical RNAi pathway (NCRIP) regulates the expression of mRNAs by degrading them in a specific manner. Its mechanism binds dsRNA but only cuts ssRNA. NCRIP exhibits a diversity of functional roles. It represses the epimutational pathway and the lack of NCRIP increases the generation of drug resistant strains. NCRIP also regulates the control of retrotransposons expression, playing an essential role in genome stability. 
  • 680
  • 29 Jun 2021
Topic Review
Hereditary Folate Malabsorption
Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.
  • 679
  • 23 Dec 2020
Topic Review
ITGB4 Gene
Integrin subunit beta 4
  • 678
  • 23 Dec 2020
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 678
  • 23 Dec 2020
Topic Review
DNMT1 Gene
DNA Methyltransferase 1: The DNMT1 gene provides instructions for making an enzyme called DNA methyltransferase 1. 
  • 678
  • 24 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 678
  • 24 Dec 2020
Topic Review
Polycomb Group Proteins and Cancer
The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
  • 678
  • 11 Nov 2022
Topic Review
Gray Platelet Syndrome
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting.
  • 677
  • 23 Dec 2020
Topic Review
CYP7B1 Gene
Cytochrome P450 Family 7 Subfamily B Member 1
  • 677
  • 23 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 677
  • 24 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 677
  • 24 Dec 2020
Topic Review
SLC34A1 Gene
solute carrier family 34 member 1
  • 677
  • 24 Dec 2020
Topic Review
Familial Isolated Pituitary Adenoma
Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions.
  • 677
  • 25 Dec 2020
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