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Topic Review
Hereditary Cerebral Amyloid Angiopathy
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood.
  • 751
  • 23 Dec 2020
Topic Review
ITGA6 Gene
Integrin subunit alpha 6
  • 751
  • 23 Dec 2020
Topic Review
KAT6B Gene
Lysine acetyltransferase 6B
  • 751
  • 23 Dec 2020
Topic Review
KCNH2 Gene
Potassium voltage-gated channel subfamily H member 2
  • 751
  • 23 Dec 2020
Topic Review
Pearson Marrow-Pancreas Syndrome
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy.
  • 751
  • 24 Dec 2020
Topic Review
Drought-Adapted Mediterranean Diet Plants
The Mediterranean diet features plant-based foods renowned for their health benefits derived from bioactive compounds.
  • 751
  • 20 Feb 2024
Topic Review
GRIN2A Gene
Glutamate ionotropic receptor NMDA type subunit 2A
  • 750
  • 22 Dec 2020
Topic Review
RECQL4
RecQ like helicase 4
  • 750
  • 23 Dec 2020
Topic Review
Riboflavin Transporter Deficiency Neuronopathy
Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.
  • 750
  • 24 Dec 2020
Topic Review
NPHP1 Gene
nephrocystin 1
  • 750
  • 24 Dec 2020
Topic Review
CLN2 Disease
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
  • 750
  • 24 Dec 2020
Topic Review
CHRNA4 Gene
cholinergic receptor nicotinic alpha 4 subunit
  • 750
  • 24 Dec 2020
Topic Review
Patatin-like Phospholipase Domain-Containing Protein 6
Patatin-like phospholipase domain-containing protein 6 (PNPLA6), originally called Neuropathy Target Esterase (NTE), belongs to a family of hydrolases with at least eight members in mammals. PNPLA6/NTE was first identified as a key factor in Organophosphate-induced delayed neuropathy, a degenerative syndrome that occurs after exposure to organophosphates found in pesticides and nerve agents. More recently, mutations in PNPLA6/NTE have been linked with a number of inherited diseases with diverse clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. A conditional knockout of PNPLA6/NTE in the mouse brain results in age-related neurodegeneration, whereas a complete knockout causes lethality during embryogenesis due to defects in the development of the placenta. PNPLA6/NTE is an evolutionarily conserved protein that in Drosophila is called Swiss-Cheese (SWS). Loss of SWS in the fly also leads to locomotory defects and neuronal degeneration that progressively worsen with age. 
  • 750
  • 01 Apr 2022
Topic Review
Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 750
  • 23 Dec 2020
Topic Review
Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle).
  • 749
  • 25 Dec 2020
Topic Review
ANK2
Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ANK2 gene. Ankyrin-B is ubiquitously expressed, but shows high expression in cardiac muscle. Ankyrin-B plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in cardiomyocytes, as well as in costamere structures. Mutations in ankyrin-B cause a dominantly-inherited, cardiac arrhythmia syndrome known as ankyrin-B syndrome as well as sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy. Alterations in ankyrin-B expression levels are observed in human heart failure.
  • 749
  • 08 Nov 2022
Topic Review
Von Willebrand Disease
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury.
  • 748
  • 23 Dec 2020
Topic Review
Cerebral Folate Transport Deficiency
Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain.
  • 748
  • 24 Dec 2020
Topic Review
Andersen-Tawil Syndrome
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.
  • 748
  • 24 Dec 2020
Topic Review
ATP8B1 Gene
ATPase phospholipid transporting 8B1
  • 748
  • 24 Dec 2020
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