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Topic Review
Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system.
  • 754
  • 25 Dec 2020
Topic Review
LncRNAs Display Circadian Rhythmicity in Zebrafish Larvae
Long noncoding RNAs (lncRNAs) have been shown to play crucial roles in various life processes, including circadian rhythms. Although next generation sequencing technologies have facilitated faster profiling of lncRNAs, the resulting datasets require sophisticated computational analyses. In particular, the regulatory roles of lncRNAs in circadian clocks are far from being completely understood.
  • 754
  • 07 Dec 2021
Topic Review
KAT6B Gene
Lysine acetyltransferase 6B
  • 753
  • 23 Dec 2020
Topic Review
RECQL4
RecQ like helicase 4
  • 753
  • 23 Dec 2020
Topic Review
ATP8B1 Gene
ATPase phospholipid transporting 8B1
  • 753
  • 24 Dec 2020
Topic Review
SYNGAP1-Related Intellectual Disability
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. 
  • 753
  • 24 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).
  • 753
  • 25 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. 
  • 753
  • 01 Apr 2022
Topic Review
Drought-Adapted Mediterranean Diet Plants
The Mediterranean diet features plant-based foods renowned for their health benefits derived from bioactive compounds.
  • 753
  • 20 Feb 2024
Topic Review
GRIN2A Gene
Glutamate ionotropic receptor NMDA type subunit 2A
  • 752
  • 22 Dec 2020
Topic Review
ITGA6 Gene
Integrin subunit alpha 6
  • 752
  • 23 Dec 2020
Topic Review
KCNH2 Gene
Potassium voltage-gated channel subfamily H member 2
  • 752
  • 23 Dec 2020
Topic Review
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance.
  • 752
  • 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.
  • 752
  • 24 Dec 2020
Topic Review
CFHR5 Gene
complement factor H related 5
  • 752
  • 24 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.
  • 752
  • 08 Nov 2022
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
Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 751
  • 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.
  • 751
  • 24 Dec 2020
Topic Review
DOLK Gene
Dolichol Kinase
  • 751
  • 24 Dec 2020
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