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Topic Review
Obsessive-Compulsive Disorder
Obsessive-compulsive disorder (OCD) is a mental health condition characterized by features called obsessions and compulsions. Obsessions are intrusive thoughts, mental images, or urges to perform specific actions. While the particular obsessions vary widely, they often include fear of illness or contamination; a desire for symmetry or getting things "just right;" or intrusive thoughts involving religion, sex, or aggression. Compulsions consist of the repetitive performance of certain actions, such as checking or verifying, washing, counting, arranging, acting out specific routines, or seeking assurance. These behaviors are performed to relieve anxiety, rather than to seek pleasure as in other compulsive behaviors like gambling, eating, or sex.
  • 1.2K
  • 04 Jan 2021
Topic Review
Werner Syndrome
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging.
  • 1.2K
  • 23 Dec 2020
Topic Review
ADA Gene
Adenosine deaminase
  • 1.2K
  • 04 Jan 2021
Topic Review
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Delta133p53 Isoforms of Human TP53
The TP53 gene is a critical tumor suppressor and key determinant of cell fate which regulates numerous cellular functions including DNA repair, cell cycle arrest, cellular senescence, apoptosis, autophagy and metabolism. The delta133p53 isoforms are critical regulators of these biological processes in human physiology and diseases such as cancer.  
  • 1.2K
  • 28 Sep 2021
Topic Review
GH1 Gene
Growth hormone 1
  • 1.2K
  • 25 Dec 2020
Topic Review
Structure and Function of UHRF1
Cancer is one of the leading causes of death worldwide, and its incidence and mortality are increasing each year. Improved therapeutic strategies against cancer have progressed, but remain insufficient to invert this trend. Along with several other risk factors, abnormal genetic and epigenetic regulations play a critical role in the initiation of cellular transformation, as well as tumorigenesis. The epigenetic regulator UHRF1 (ubiquitin-like, containing PHD and RING finger domains 1) is a multidomain protein with oncogenic abilities overexpressed in most cancers. Through the coordination of its multiple domains and other epigenetic key players, UHRF1 regulates DNA methylation and histone modifications. This well-coordinated dialogue leads to the silencing of tumor-suppressor genes (TSGs) and facilitates tumor cells’ resistance toward anticancer drugs, ultimately promoting apoptosis escape and uncontrolled proliferation. Several studies have shown that the downregulation of UHRF1 with natural compounds in tumor cells induces the reactivation of various TSGs, inhibits cell growth, and promotes apoptosis.
  • 1.2K
  • 24 Aug 2023
Topic Review
CBAVD
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. 
  • 1.2K
  • 04 Jan 2021
Topic Review
TTR Gene
Transthyretin
  • 1.2K
  • 04 Jan 2021
Topic Review
Stickler syndrome
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Hypophosphatasia
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Warfarin Resistance
Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming.
  • 1.2K
  • 23 Dec 2020
Topic Review
PPM-X Syndrome
PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development.
  • 1.2K
  • 24 Dec 2020
Topic Review
Hypoxia-Induced Non-Coding RNAs
Non-coding RNA  induced by low oxygen partial pressure play a crucial role in cancer progression and therapeutic response.
  • 1.2K
  • 19 Apr 2021
Topic Review
Spastic Paraplegia Type 2
Spastic paraplegia type 2 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). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Chromosome 16
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
  • 1.2K
  • 24 Dec 2020
Topic Review
CircRNAs
Circular RNAs (circRNAs) are a class of non-coding RNAs that form a covalently closed loop.
  • 1.2K
  • 02 Feb 2021
Topic Review
Klinefelter Syndrome
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development.
  • 1.2K
  • 23 Dec 2020
Topic Review
PTCH1 Gene
patched 1
  • 1.2K
  • 23 Dec 2020
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