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Topic Review
SERPINI1 Gene
serpin family I member 1
  • 744
  • 24 Dec 2020
Topic Review
MITF Gene
melanocyte inducing transcription factor
  • 743
  • 22 Dec 2020
Topic Review
CACNB4 Gene
calcium voltage-gated channel auxiliary subunit beta 4
  • 743
  • 24 Dec 2020
Topic Review
Pearson Marrow-Pancreas Syndrome
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy.
  • 743
  • 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.
  • 743
  • 08 Nov 2022
Topic Review
Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum).
  • 742
  • 24 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.
  • 742
  • 24 Dec 2020
Topic Review
CFHR5 Gene
complement factor H related 5
  • 742
  • 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. 
  • 742
  • 01 Apr 2022
Topic Review
Hyperferritinemia-Cataract Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.
  • 741
  • 23 Dec 2020
Topic Review
Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities.
  • 741
  • 23 Dec 2020
Topic Review
Multiple Mitochondrial Dysfunctions Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
  • 741
  • 01 May 2021
Topic Review
RECQL4
RecQ like helicase 4
  • 741
  • 23 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 2
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.
  • 741
  • 24 Dec 2020
Topic Review
DOLK Gene
Dolichol Kinase
  • 741
  • 24 Dec 2020
Topic Review
CARD9 Gene
caspase recruitment domain family member 9
  • 741
  • 24 Dec 2020
Topic Review
CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
  • 741
  • 24 Dec 2020
Topic Review
COQ2 Gene
coenzyme Q2, polyprenyltransferase
  • 741
  • 24 Dec 2020
Topic Review
EIF2B4 Gene
Eukaryotic translation initiation factor 2B subunit delta
  • 741
  • 25 Dec 2020
Topic Review
Gene–Diet Interactions on Metabolic Disease-Related Outcomes
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries.
  • 741
  • 31 Jul 2023
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