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Topic Review
HSD17B10 Gene
Hydroxysteroid 17-beta dehydrogenase 10
  • 685
  • 23 Dec 2020
Topic Review
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.
  • 685
  • 24 Dec 2020
Topic Review
BSCL2 Gene
BSCL2, seipin lipid droplet biogenesis associated
  • 685
  • 24 Dec 2020
Topic Review
UCHL1 Gene
Ubiquitin C-terminal hydrolase L1.
  • 683
  • 23 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
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.
  • 683
  • 25 Dec 2020
Topic Review
GNAQ Gene
G protein subunit alpha q
  • 682
  • 23 Dec 2020
Topic Review
HLA-DPB1 Gene
Major histocompatibility complex, class II, DP beta 1
  • 682
  • 22 Dec 2020
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).
  • 682
  • 23 Dec 2020
Topic Review
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
  • 682
  • 23 Dec 2020
Topic Review
STXBP1 Gene
Syntaxin binding protein 1: The STXBP1 gene provides instructions for making syntaxin-binding protein 1.
  • 682
  • 24 Dec 2020
Topic Review
ZFYVE26 Gene
Zinc finger FYVE-type containing 26: the ZFYVE26 gene provides instructions for making a protein called spastizin.
  • 682
  • 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.
  • 682
  • 21 Dec 2021
Topic Review
GABA-Transaminase Deficiency
GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy.
  • 682
  • 23 Dec 2020
Topic Review
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth.
  • 681
  • 23 Dec 2020
Topic Review
ARID1A Gene
AT-rich interaction domain 1A
  • 681
  • 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).
  • 681
  • 16 May 2022
Topic Review
MECP2 Gene
methyl-CpG binding protein 2
  • 680
  • 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. 
  • 680
  • 22 Dec 2020
Topic Review
GM3 Synthase Deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
  • 680
  • 23 Dec 2020
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