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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
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
ADA Gene
Adenosine deaminase
  • 1.2K
  • 04 Jan 2021
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
GH1 Gene
Growth hormone 1
  • 1.2K
  • 25 Dec 2020
Topic Review
TTR Gene
Transthyretin
  • 1.2K
  • 04 Jan 2021
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
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
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
GNAS Gene
GNAS complex locus
  • 1.2K
  • 23 Dec 2020
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
Small Fiber Neuropathy
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands.
  • 1.2K
  • 25 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
Roles of Werner Syndrome
WRN, the gene responsible for the premature aging associated with Werner syndrome (WS), was identified. Research on genes that suppress aging has been conducted worldwide. During this time, many researchers have participated in these investigations, and it has been established that the protein encoded by WRN is an ATPase activated by single-stranded DNA with DNA unwinding activity in the 3′ to 5′ direction, and that it performs a unique 3′ to 5′ exonuclease activity not observed in other RecQ family members, interacts with a great variety of DNA metabolic proteins, and that it is involved in replication, repair, recombination, transcription, and histone modifications to maintain chromosome stability from the base sequence level to the chromatin level. Within the enzymes/proteins that play crucial roles in these chromosomal events, the WRN helicase plays a fine-tuning role as a supporter. Its functional abnormalities induce chromosomal instability. Abnormal DNA structures accumulated in chromosomes and changes in gene expression profiles caused by epigenetic and transcriptional abnormalities lead to systemic disruption of cellular functions (For example, loss of protein homeostasis, mitochondrial dysfunction, shortened mitotic lifespan, impaired differentiation) and manifest as symptoms such as premature aging.
  • 1.2K
  • 17 Oct 2022
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
CircRNAs
Circular RNAs (circRNAs) are a class of non-coding RNAs that form a covalently closed loop.
  • 1.2K
  • 02 Feb 2021
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
Grange Syndrome
Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart.
  • 1.2K
  • 23 Dec 2020
Topic Review
Lujan Syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
  • 1.2K
  • 24 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
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