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Topic Review
CLN7 Disease
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
  • 829
  • 24 Dec 2020
Topic Review
PANK2 Gene
pantothenate kinase 2
  • 829
  • 25 Dec 2020
Topic Review
PHF21A Gene
PHD finger protein 21A
  • 829
  • 25 Dec 2020
Topic Review
Christianson Syndrome
Christianson syndrome is a disorder that primarily affects the nervous system.
  • 828
  • 24 Dec 2020
Topic Review
TECPR2 Gene
Tectonin beta-propeller repeat containing 2: The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. 
  • 828
  • 24 Dec 2020
Topic Review
SF3B4 Gene
splicing factor 3b subunit 4
  • 828
  • 24 Dec 2020
Topic Review
Triosephosphate Isomerase Deficiency
Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.  
  • 827
  • 23 Dec 2020
Topic Review
Myotonic Dystrophy
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.
  • 827
  • 23 Dec 2020
Topic Review
CLN4 Disease
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
  • 827
  • 24 Dec 2020
Topic Review
TERT Gene
Telomerase reverse transcriptase: The TERT gene provides instructions for making one component of an enzyme called telomerase.
  • 827
  • 24 Dec 2020
Topic Review
PNKP Gene
polynucleotide kinase 3'-phosphatase
  • 827
  • 25 Dec 2020
Topic Review
Cis-Regulatory Elements in Mammals
In cis-regulatory elements, enhancers and promoters with complex molecular interactions are used to coordinate gene transcription through physical proximity and chemical modifications. These processes subsequently influence the phenotypic characteristics of an organism. An in-depth exploration of enhancers and promoters can substantially enhance researchers' understanding of gene regulatory networks, shedding new light on mammalian development, evolution and disease pathways.
  • 827
  • 18 Jan 2024
Topic Review
Narcolepsy
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.
  • 826
  • 23 Dec 2020
Topic Review
Opioid Addiction
Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.
  • 826
  • 24 Dec 2020
Topic Review
Parathyroid Cancer
Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood.
  • 825
  • 24 Dec 2020
Topic Review
Factor XIII Deficiency
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.
  • 825
  • 25 Dec 2020
Topic Review
Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
  • 825
  • 25 Dec 2020
Topic Review
Foetal Programming
Foetal programming is a theory that suggests that the environment of the foetus during development affects their disease risk later in life. The three main routes of this programming are through maternal environment causing: These maternal environmental changes can be through nutritional changes, hormonal changes or exposure to toxins.
  • 825
  • 24 Nov 2022
Topic Review
MLYCD Gene
malonyl-CoA decarboxylase
  • 824
  • 22 Dec 2020
Topic Review
BRCA1 Gene
BRCA1, DNA repair associated
  • 824
  • 24 Dec 2020
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