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Topic Review
Chordoma
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.
  • 688
  • 24 Dec 2020
Topic Review
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth.
  • 687
  • 23 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 687
  • 24 Dec 2020
Topic Review
Deleted in Colorectal Cancer
An Error has occurred retrieving Wikidata item for infobox Deleted in Colorectal Carcinoma, also known as DCC, is a protein which in humans is encoded by the DCC gene. DCC has long been implicated in colorectal cancer. While the official, full name of this gene is Deleted in Colorectal Carcinoma, it is almost universally called Deleted in Colorectal Cancer. The protein product of DCC is a single transmembrane receptor also known as DCC, and it has the same interchangeable name. Since it was first discovered in a colorectal cancer study in 1990, DCC has been the focus of a significant amount of research. DCC held a controversial place as a tumour suppressor gene for many years, and is well known as an axon guidance receptor that responds to netrin-1. More recently DCC has been characterized as a dependence receptor, and many hypotheses have been put forward that have revived interest in DCC's candidacy as a tumour suppressor gene, as it may be a ligand-dependent suppressor that is frequently epigenetically silenced.
  • 687
  • 08 Oct 2022
Topic Review
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
  • 687
  • 23 Dec 2020
Topic Review
UCHL1 Gene
Ubiquitin C-terminal hydrolase L1.
  • 685
  • 23 Dec 2020
Topic Review
ZFYVE26 Gene
Zinc finger FYVE-type containing 26: the ZFYVE26 gene provides instructions for making a protein called spastizin.
  • 685
  • 24 Dec 2020
Topic Review
Common Genetic Model and Developmental Language Disorder
Monogenic causes of language disorders remain comparatively rare, and do not fully account for the developmental language disorders (DLD) prevalence rate of >7%. It is widely accepted that common risk variants confer a genetic susceptibility for DLDs. Termed ‘complex genetic model’, each variant contributes incrementally to an overall level of risk of developing a language disorder. Studies to identify these risk variants within a complex genetic model fall into two main approaches: linkage studies and genome-wide association studies (GWASs).
  • 685
  • 16 May 2022
Topic Review
Glutaric Acidemia Type II
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).
  • 684
  • 23 Dec 2020
Topic Review
IRAK-4 Deficiency
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.)
  • 684
  • 23 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.
  • 684
  • 25 Dec 2020
Topic Review
HLA-DPB1 Gene
Major histocompatibility complex, class II, DP beta 1
  • 683
  • 22 Dec 2020
Topic Review
STING1 Gene
Stimulator of interferon response cGAMP interactor 1: The STING1 gene provides instructions for making a protein that is involved in immune system function. 
  • 683
  • 22 Dec 2020
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.
  • 683
  • 23 Dec 2020
Topic Review
STXBP1 Gene
Syntaxin binding protein 1: The STXBP1 gene provides instructions for making syntaxin-binding protein 1.
  • 683
  • 24 Dec 2020
Topic Review
Aicardi Syndrome
Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).
  • 683
  • 24 Dec 2020
Topic Review
Gene Regulatory Networks in Cancer
Cancer is a genetic disease that involves perturbation of gene regulatory networks (GRNs) caused by various mechanisms, such as copy number alteration, abnormal methylation status, abnormal protein configuration, and post-transcriptional dysregulation. Although driver gene mutation information is crucial for the estimation of the genetic etiology of cancer, it is becoming increasingly evident that many genes are involved in cancer pathophysiology, which appears to disrupt GRNs. In this context, the identification of information regarding gene regulation in cancer tissues is expected to provide invaluable information for the development of anticancer agents or cancer management strategies.
  • 683
  • 21 Dec 2021
Topic Review
MECP2 Gene
methyl-CpG binding protein 2
  • 683
  • 22 Dec 2020
Topic Review
CYP2C9 Gene
Cytochrome P450 Family 2 Subfamily C Member 9
  • 683
  • 23 Dec 2020
Topic Review
GNAQ Gene
G protein subunit alpha q
  • 682
  • 23 Dec 2020
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