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Topic Review
DES Gene
Desmin
  • 849
  • 24 Dec 2020
Topic Review
Rabson-Mendenhall Syndrome
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 849
  • 24 Dec 2020
Topic Review
ATP7A Gene
ATPase copper transporting alpha
  • 849
  • 24 Dec 2020
Topic Review
COL1A2 Gene
collagen type I alpha 2 chain
  • 849
  • 24 Dec 2020
Topic Review
SOST-Related Sclerosing Bone Dysplasia
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis).
  • 849
  • 24 Dec 2020
Topic Review
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.
  • 849
  • 25 Dec 2020
Topic Review
Influence of Prenatal Methamphetamine Abuse on the Brain
Methamphetamine (MA), a psychostimulant, has become a serious problem in recent years. It is one of the most widely abused psychostimulants in the world.
  • 849
  • 29 Oct 2021
Topic Review
Vascular Anomalies
Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. Vascular lesions had been habitually termed ‘hemangioma’ or ‘angioma’ in both Japan and Europe/the United States based on the impression that most anomalies are ‘tumors’. On the contrary, hemangioma simplex and cavernous hemangioma, for example, are actually morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma”. These diseases differ from tumors in a narrow sense, which refers to autonomous cell proliferation. In addition to such problems with disease naming and nomenclature, vascular lesions can occur at various ages and in various organs, meaning they may require treatment in various hospital departments, so improved common terms/language are essential for mutual understanding.
  • 849
  • 11 Mar 2022
Topic Review
STAT4 Gene
Signal transducer and activator of transcription 4: The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.
  • 848
  • 22 Dec 2020
Topic Review
ASAH1 Gene
N-acylsphingosine amidohydrolase 1
  • 848
  • 24 Dec 2020
Topic Review
X-linked Creatine Deficiency
X-linked creatine deficiency is an inherited disorder that primarily affects the brain.
  • 848
  • 24 Dec 2020
Topic Review
EDNRB Gene
Endothelin receptor type B: The EDNRB gene provides instructions for making a protein called endothelin receptor type B. 
  • 848
  • 24 Dec 2020
Topic Review
Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.
  • 848
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 848
  • 24 Dec 2020
Topic Review
PDGFB Gene
platelet derived growth factor subunit B
  • 848
  • 25 Dec 2020
Topic Review
DFNB1
Most DFNB1 phenotypes are described as prelingual and bilateral non-syndromic hearing loss, this being severe to profound. This type of deafness affects all frequencies and is not associated with inner ear malformations.
  • 848
  • 30 Aug 2021
Topic Review
TRPV4 Gene
Transient receptor potential cation channel subfamily V member 4: The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. 
  • 848
  • 25 Dec 2020
Topic Review
MAPT Gene
Microtubule associated protein tau
  • 847
  • 23 Dec 2020
Topic Review
Ornithine Translocase Deficiency
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 847
  • 24 Dec 2020
Topic Review
CLN11 Disease
CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.
  • 847
  • 24 Dec 2020
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